Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Dym MGI:1918480

Gene Summary

Name:

dymeclin

Synonyms:

1810041M12Rik, C030019K18Rik, 4933427L07Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal seminal vesicle morphology	Dym^em1(IMPC)Tcp	HOM	Early adult	0.00
increased grip strength	Dym^em1(IMPC)Tcp	HOM	Early adult	4.45×10^-05
enlarged urinary bladder	Dym^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased circulating HDL cholesterol level	Dym^em1(IMPC)Tcp	HOM	Early adult	1.85×10^-07
abnormal joint morphology	Dym^em1(IMPC)Tcp	HOM	Early adult	6.80×10^-05
increased startle reflex	Dym^em1(IMPC)Tcp	HOM	Early adult	3.06×10^-08
decreased body length	Dym^em1(IMPC)Tcp	HOM	Early adult	1.11×10^-21
short tibia	Dym^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal bone structure	Dym^em1(IMPC)Tcp	HOM	Early adult	1.03×10^-11
increased circulating alkaline phosphatase level	Dym^em1(IMPC)Tcp	HOM	Early adult	1.00×10^-19
decreased circulating cholesterol level	Dym^em1(IMPC)Tcp	HOM	Early adult	9.46×10^-11
increased circulating aspartate transaminase level	Dym^em1(IMPC)Tcp	HOM	Early adult	5.96×10^-14
increased circulating alanine transaminase level	Dym^em1(IMPC)Tcp	HOM	Early adult	9.15×10^-27
decreased circulating triglyceride level	Dym^em1(IMPC)Tcp	HOM	Early adult	4.52×10^-10
decreased bone mineral content	Dym^em1(IMPC)Tcp	HOM	Early adult	1.24×10^-06
increased mean corpuscular volume	Dym^em1(IMPC)Tcp	HOM	Early adult	4.63×10^-06
decreased prepulse inhibition	Dym^em1(IMPC)Tcp	HOM	Early adult	1.67×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Slit Lamp

15 Images

View images

Eye Morphology

Images Ophthalmoscopy

104 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Histopathology

Images

7 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Gross Pathology and Tissue Collection

Images

9 Images

View images

Human diseases caused by Dym mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Dym (3 diseases)
Human diseases predicted to be associated with Dym (1066 diseases)

The table below shows human diseases associated to Dym by orthology or direct annotation.

Disease	Matching phenotypes	Source
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br...	OMIM:223800
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Multi...	OMIM:607326
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239

The table below shows human diseases predicted to be associated to Dym by phenotypic similarity.

Disease	Matching phenotypes	Source
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cart...	ORPHA:2347
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Intellectual Disability, Buenos-Aires Type	Pectus carinatum, Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumbar vertebral b...	ORPHA:3079
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Micrognathia, Increased intervertebral space, Absent front...	OMIM:224300
Opsismodysplasia	Narrow chest, Broad thumb, Abnormal epiphysis morphology, Flat occiput, Frontal bossing, Macrocep...	ORPHA:2746
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femor...	OMIM:619598
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ...	OMIM:118651
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Spondylometaphyseal Dysplasia, Corner Fracture Type	Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta...	OMIM:184255
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha...	OMIM:614524
Opsismodysplasia	Renal phosphate wasting, Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Ante...	OMIM:258480
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg...	OMIM:222600
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Open bite, Short neck, Cachexia, High palate, Short foot, Biparietal ...	ORPHA:85293
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Plagiocephaly, Abnormal form of the vertebral bodies, Elbow dislocation, A...	ORPHA:2916
Dysosteosclerosis	Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption ...	ORPHA:1782
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Short femoral neck, Pes cavus, Short humerus, Thoracic scoliosis, Talipes eq...	OMIM:616716
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Talipes, Tal...	OMIM:108720
Three M Syndrome 1	Short neck, Pes planus, Hypospadias, Hip dislocation, Short 5th finger, Increased vertebral heigh...	OMIM:273750
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Micrognathia, Renal hypoplasia/aplasia, Talipes equinovarus, Rad...	ORPHA:1988
Seckel Syndrome 4	Retrognathia, 11 pairs of ribs, Steep acetabular roof, Decreased body weight, Microcephaly, Sever...	OMIM:613676
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Tetraploidy	Radial club hand, Micrognathia, Renal hypoplasia/aplasia, Hydronephrosis, Microcephaly, Short phi...	ORPHA:3305
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped...	ORPHA:1803
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal calvaria morphology, Synostosis of carpal bones, Finger syndactyly, Camptodactyly of fin...	ORPHA:1323
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis, Dislocated radial ...	OMIM:101800
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum...	ORPHA:2831
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ...	ORPHA:3144
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short...	OMIM:601438
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Renal agenesis, Abnorma...	ORPHA:3027
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh...	OMIM:602557
Spinal Dysplasia, Anhalt Type	Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s...	OMIM:601344
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su...	OMIM:612447
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i...	OMIM:151210
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla...	OMIM:187600
Three M Syndrome 2	Thin ribs, Clinodactyly, Short neck, High palate, Short 5th finger, Pectus carinatum, Short thora...	OMIM:612921
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Unilateral cleft lip, Flared metaphysis, Thoracic hypoplasia, Decreased fibular di...	OMIM:616897
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Microcephaly, Aplasia/Hypoplasia of the ulna...	ORPHA:2491
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Micrognathia, Hydronephrosis, Smooth philtrum, Microcephaly, Th...	ORPHA:1920
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic platyspondyly,...	OMIM:618961
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Pes planus, Flattened epiphysis, High palate, Dislocated radial he...	OMIM:612350
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar...	OMIM:187601
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Widely spaced teeth, A...	OMIM:135100
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Long philtrum, Limited elbow flexion, Rhizomelic arm sh...	OMIM:164745
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Slender build, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, S...	OMIM:187760
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog...	ORPHA:1842
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Renal dysplasia, Microglossia, Macrocepha...	OMIM:241800
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar...	OMIM:228520
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of...	OMIM:602849
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h...	OMIM:602471
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom...	OMIM:610539
Kyphomelic Dysplasia	Narrow chest, Micromelia, Abnormal form of the vertebral bodies, Micrognathia, Undulate ribs, Mis...	ORPHA:1801
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Finger syndactyly, Kyphosis, Short middle phalanx of finger, Abnormal...	ORPHA:1005
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Hyperechogenic kidneys, Thoracic ...	OMIM:617866
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Decreased body weight, Microcephaly, Broad phalanx, Short phalanx of finger, Sh...	OMIM:618724
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Isotretinoin Syndrome	Micrognathia, Cleft palate, Spina bifida occulta, Biparietal narrowing, Sacral dimple	ORPHA:2305
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral...	OMIM:100800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor...	OMIM:613320
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Hypoplastic il...	ORPHA:1858
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Plagiocephaly, Hypoplastic vertebral bodies, Microcephaly, Brachy...	ORPHA:2163
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Broad foot, Carpal bone hypoplasia, Metaphyseal dysplasia, Broad phalanx, Short foot...	OMIM:250420
Camptodactyly Syndrome, Guadalajara Type 1	Toe syndactyly, Open bite, Narrow mouth, High palate, Pectus carinatum, Short toe, Downturned cor...	ORPHA:1327
Achondrogenesis Type 2	Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Absent vertebral body mineralizati...	ORPHA:93296
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin...	ORPHA:93328
Holoprosencephaly, Semilobar, With Craniosynostosis	Lambdoidal craniosynostosis, Short distal phalanx of finger, Coronal craniosynostosis, Hypoplasti...	OMIM:601370
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move...	ORPHA:94068
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epiphysis, Thoraci...	OMIM:613091
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Micromelia, Long philtrum, Thoracic hypoplasia, Lateral clavicle ...	OMIM:617895
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Gm1 Gangliosidosis Type 1	Platyspondyly, Pectus carinatum, Long philtrum, Beaking of vertebral bodies T12-L3, Urinary glyco...	ORPHA:79255
Rhizomelic Chondrodysplasia Punctata, Type 2	Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Stippled calcification pro...	OMIM:222765
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm...	ORPHA:628
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif...	OMIM:215045
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia o...	ORPHA:3266
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis, Thoracic hypoplasia, Thoracic dysplasia, Obesity, Genu ...	OMIM:615630
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Patchy distortion of ver...	OMIM:155050
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis	OMIM:618155
Rubinstein-Taybi Syndrome 2	Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,...	OMIM:613684
Hypophosphatasia, Infantile	Platyspondyly, Abnormality of the dentition, Metaphyseal cupping, Nephrocalcinosis, Rachitic rosa...	OMIM:241500
Frontometaphyseal Dysplasia	Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Micrognathia, Limi...	ORPHA:1826
Multiple Synostoses Syndrome 1	Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha...	OMIM:186500
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Abnormality of the ureter, Bilateral single transverse palmar creases, Renal hypopla...	ORPHA:1770
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Abnormality of the dentition, Nephrocalcinosis, Hydroureter, Downtur...	OMIM:615398
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Twelfth rib hypoplasia, Bell-shaped thorax, Micrognathia, Long clavicles, Hypospadias, Renal dysp...	ORPHA:397715
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Gurrieri Syndrome	Hypoplastic iliac wing, Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar ver...	OMIM:601187
Fibular Hemimelia	Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e...	ORPHA:93323
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Butterfly vertebrae, Short humerus, Short...	OMIM:607143
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Scoliosis, Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Knee dislocation, Sma...	OMIM:620269
Alpha-Mannosidosis	Craniofacial hyperostosis, Scoliosis, Dental malocclusion, Widely spaced teeth, Open bite, Macroc...	ORPHA:61
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Micrognathia, Femoral bowing, Dumbbel...	ORPHA:440354
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Micrognathia, Fibular bowing, Bowing of the long bones, Thoracic hypoplas...	OMIM:613848
Seckel Syndrome 1	Ivory epiphyses, Micrognathia, Talipes, Pes planus, High palate, Dislocated radial head, Hypospad...	OMIM:210600
Bent Bone Dysplasia Syndrome 2	Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ...	OMIM:620076
Metatropic Dysplasia	Narrow chest, Scoliosis, Hypoplastic cervical vertebrae, Micromelia, Coarse metaphyseal trabecula...	ORPHA:2635
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec...	OMIM:271665
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Relative macrocephaly, Long fingers, High palate, Mandibular prognathia, Tap...	OMIM:618292
Acrootoocular Syndrome	Micrognathia, Anodontia, Small thenar eminence, Short foot, Short metacarpal, High, narrow palate...	ORPHA:2980
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Genu valgum, Micrognathia, Anterior concavity of thoraci...	OMIM:309350
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Richieri Costa-Da Silva Syndrome	Pectus carinatum, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodi...	ORPHA:3101
Kyphomelic Dysplasia	Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupping, Flat acetabular roof, Sho...	OMIM:211350
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ...	OMIM:173800
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c...	ORPHA:1972
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid uvula, Abnormality of the urinary system, Broad hallux, Abnormal thumb morphology, Hydronep...	ORPHA:2669
Mosaic Trisomy 9	Elbow dislocation, Micrognathia, Talipes equinovarus, Short neck, High palate, Biparietal narrowi...	ORPHA:99776
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,...	OMIM:609052
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Frontal bossing, Macrocephaly, Femoral...	ORPHA:1860
Ring Chromosome 8 Syndrome	Deviation of finger, Abnormality of the ureter, Abnormal palate morphology, Hydronephrosis, Front...	ORPHA:1450
Craniosynostosis 3	Dental malocclusion, Bicoronal synostosis, Single transverse palmar crease, Hallux valgus, Sagitt...	OMIM:615314
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Achondrogenesis, Type Ii	Microretrognathia, Long philtrum, Abnormal foot morphology, Short tubular bones of the hand, Hypo...	OMIM:200610
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture...	ORPHA:93315
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Failure to thrive, Short humerus, Lateral femoral bowing, Bowing of the long b...	OMIM:239000
Poland Syndrome	Small hand, Finger syndactyly, Ureterocele, Aplasia/Hypoplasia of the sternum, Renal hypoplasia/a...	ORPHA:2911
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor...	ORPHA:93307
8P23.1 Microdeletion Syndrome	Hypospadias, Broad thumb, Enlarged thorax, Obesity, Micrognathia, Microcephaly, Short neck, Pes p...	ORPHA:251071
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Long metacarpals, Dilatation of the renal pelvis, Joint contract...	OMIM:600920
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Abnormal sacrum morphology, Macrocephaly, Prominent occiput, Vertebral segmentation...	ORPHA:1797
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Orofaciodigital Syndrome Type 6	Micrognathia, Renal hypoplasia/aplasia, Foot polydactyly, High palate, Biparietal narrowing, Synd...	ORPHA:2754
Gm1-Gangliosidosis, Type Ii	Thoracolumbar kyphosis, Platyspondyly, Failure to thrive, Gingival overgrowth, Narrow mouth, Prot...	OMIM:230600
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Oligodontia, Thin upper lip vermilion...	OMIM:616331
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Bell-shaped thorax, Flat acetabular roof, Cleft lip, Hamartoma of tongu...	OMIM:616300
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Failure to thrive, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia,...	OMIM:615503
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thick lower lip vermilion, Elbow flexion contracture, Heparan sulfate excre...	OMIM:252940
1Q44 Microdeletion Syndrome	Frontal bossing, Horseshoe kidney, Micrognathia, Vesicoureteral reflux, Exaggerated cupid's bow, ...	ORPHA:238769
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Intellectual Developmental Disorder, Autosomal Recessive 39	Microcephaly, Hallux valgus, Dental malocclusion, Kyphoscoliosis	OMIM:615541
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth...	ORPHA:93352
2p15-16.1 microdeletion syndrome	Hydronephrosis, Microcephaly, Camptodactyly of finger	DECIPHER:70
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me...	OMIM:609324
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ...	OMIM:201170
Teebi-Shaltout Syndrome	Caudal appendage, Narrow mouth, Talipes equinovarus, Syndactyly, High, narrow palate, Pectus cari...	OMIM:272950
Atelosteogenesis Type I	Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Absent or minimally ossified verteb...	ORPHA:1190
Meier-Gorlin Syndrome 1	Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Long philtrum, Frontal bossing, Malar flattening, Microcephaly, Brachycephaly, Brachydactyly, Bip...	ORPHA:1292
Short Stature, Brussels Type	Delayed epiphyseal ossification, Narrow chest, Microretrognathia, Horseshoe kidney, Calcification...	ORPHA:2867
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Multicystic kidney dysplasia, Dental malocclusion, Failur...	ORPHA:2115
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Plagiocephaly, Micromelia, Abnormal diaphysis morphology, Cam...	ORPHA:2021
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Plagiocephaly, Slender long bone, Retrognathia, Trigonocephaly, Micrognathia, Vesicour...	OMIM:618265
Rudiger Syndrome	Ureterovesical stenosis, Single transverse palmar crease, Short digit, Micropenis, Frontal bossin...	OMIM:268650
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Scoliosis, Bowing of ...	ORPHA:2501
3Q29 Microduplication Syndrome	Abnormality of the dentition, Toe syndactyly, Sandal gap, Obesity, Camptodactyly of toe, Microcep...	ORPHA:251038
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Thick vermilion border, Clinodactyly...	ORPHA:228396
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Micrognathia, Bowing of the long bones, Hip disloca...	ORPHA:2484
Larsen-Like Syndrome	Dental malocclusion, Macrocephaly, Radial deviation of the 4th finger, Malar flattening, Kyphosco...	OMIM:608545
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Narrow chest, Anisospondyly, Micromelia, Broad long bones, Clubbing of fingers,...	ORPHA:1865
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,...	ORPHA:3320
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Ove...	ORPHA:314585
Cerebrocostomandibular Syndrome	Carious teeth, Micrognathia, Cleft soft palate, Bell-shaped thorax, Short hard palate, High palat...	OMIM:117650
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol...	ORPHA:2839
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed erupti...	OMIM:225500
Microphthalmia With Limb Anomalies	Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Post...	ORPHA:1106
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme...	ORPHA:66637
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular...	OMIM:614669
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Small hand, Hypoplasia of the odontoid process, Malar flattening, Talipes equinova...	ORPHA:85172
Non-Distal Deletion 10Q	Overlapping fingers, Bilateral single transverse palmar creases, Brachydactyly, Clinodactyly of t...	ORPHA:1581
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Vesicoureteral reflux,...	OMIM:619217
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ...	OMIM:618363
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Pycnodysostosis	Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Micrognathia, Delayed eruption of p...	ORPHA:763
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Kyphosis, Short 4th toe, Failure to thrive, Short humerus, Short neck, Brac...	ORPHA:420794
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly	OMIM:300484
Trochlea Of The Humerus, Aplasia Of	Cleft palate, Short humerus	OMIM:191000
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di...	OMIM:300863
Metaphyseal Chondrodysplasia, Jansen Type	Tooth malposition, Metaphyseal cupping, Nephrocalcinosis, Micrognathia, Hyperphosphaturia, Knee f...	OMIM:156400
Achondrogenesis, Type Ib	Hypoplastic ilia, Narrow chest, Micromelia, Absent or minimally ossified vertebral bodies, Malar ...	OMIM:600972
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Dela...	OMIM:600373
Fetal Akinesia Deformation Sequence 4	Retrognathia, 11 pairs of ribs, Micrognathia, Short neck, Camptodactyly, High palate, Rocker bott...	OMIM:618393
Potocki-Lupski Syndrome	Mandibular prognathia, Dental malocclusion, Dental crowding, Failure to thrive, Trigonocephaly, M...	OMIM:610883
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Occipital Horn Syndrome	Genu valgum, Pes planus, High palate, Pectus carinatum, Broad clavicles, Ureteral obstruction, Li...	OMIM:304150
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Syndactyly, Fused ...	OMIM:607323
16Q24.3 Microdeletion Syndrome	Long philtrum, Frontal bossing, Micrognathia, Wide mouth, Thick vermilion border, Solitary median...	ORPHA:261250
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Dental malocclusion, Natal tooth, Short fir...	OMIM:601957
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Relative macrocephaly, Hypoplasia of the femoral head, Ovo...	OMIM:617396
Craniosynostosis 1	Frontal bossing, Oxycephaly, Scaphocephaly, Prominent occiput, Turricephaly, Sagittal craniosynos...	OMIM:123100
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow chest, Joint contracture of the hand, Micromelia, Equinovarus deformity, Broad long bones,...	OMIM:224400
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Long philtrum, Radial club hand, Abnormal dental morphology, Abnormality of the wri...	ORPHA:2878
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car...	OMIM:252600
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br...	OMIM:223800
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Downturned corners of mouth, Long philtrum, Failure t...	ORPHA:46059
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalg...	ORPHA:818
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Dysplasia of the femora...	ORPHA:93284
Lig4 Syndrome	Micrognathia, Microcephaly, Brachycephaly, Thin vermilion border, Clinodactyly of the 5th finger,...	ORPHA:99812
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Hypochondroplasia	Flared metaphysis, Frontal bossing, Macrocephaly, Lumbar hyperlordosis, Trident hand, Malar flatt...	OMIM:146000
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Short neck, Hi...	OMIM:266920
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo...	ORPHA:2563
Cranioectodermal Dysplasia 1	Chronic kidney disease, Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted l...	OMIM:218330
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Multi...	OMIM:607326
Monosomy 18Q	Mandibular prognathia, Downturned corners of mouth, Failure to thrive, Slender build, Open mouth,...	ORPHA:1600
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Sprengel anomaly, Plantar pits, Vertebral wedging...	OMIM:109400
Infantile Liver Failure Syndrome 3	Platyspondyly, Abnormality of the epiphysis of the femoral head, Abnormal acetabulum morphology, ...	OMIM:618641
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Short neck, Tarsal synostosis, Mes...	ORPHA:2756
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Broad foot, Absent fifth metatarsal, Patellar dis...	OMIM:620662
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Tran...	ORPHA:356961
Nail-Patella Syndrome	Patellar aplasia, Hematuria, Talipes equinovarus, Pes planus, Disproportionate prominence of the ...	OMIM:161200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, Abnormality...	ORPHA:251028
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Nephroblastoma, Single transverse palmar crea...	OMIM:253250
Microcephaly-Micromelia Syndrome	Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu...	OMIM:251230
Mesomelia-Synostoses Syndrome	Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia morphology, Micrognat...	ORPHA:2496
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Long philtrum, Frontal bossing, Failu...	ORPHA:1340
Prieto Syndrome	Abnormality of the dentition, Radial deviation of finger, Clinodactyly, Retrognathia, 11 pairs of...	OMIM:309610
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph...	ORPHA:79345
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency, Hand polydactyly, Orofacial cleft, Biparietal narrowing, Scolio...	ORPHA:220497
Mcdonough Syndrome	Dental malocclusion, Open bite, Micrognathia, Bilateral single transverse palmar creases, Abnorma...	ORPHA:2471
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout...	OMIM:257850
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Pes planus, Diaphysea...	OMIM:620663
Pyle Disease	Platyspondyly, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of...	OMIM:265900
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Oligodontia, Hypodontia, ...	OMIM:613823
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Postaxial polysyndactyly of foot, Polycystic kidney dysplasia, Polysyndactyly of hallux, Pectus c...	OMIM:263520
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency, Hand polydactyly, Biparietal narrowing, Foot polydactyly, Scoli...	ORPHA:2318
Macrocephaly, Benign Familial	Long philtrum, Biparietal narrowing, Macrocephaly, Dolichocephaly, Frontal bossing	OMIM:153470
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Hydronephrosis...	OMIM:314390
Primary Pulmonary Hypoplasia	Failure to thrive, Ureteral stenosis, Patellar hypoplasia, Micrognathia, Microcephaly, Cleft palate	ORPHA:2257
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Legg-Calvé-Perthes Disease	Abnormality of the dentition, Cartilage destruction	ORPHA:2380
ERI1-related disease	Velopharyngeal insufficiency, Micrognathia, Decreased body weight, Pes planus, Patellar dislocati...	OMIM:608739
Fetal Alcohol Syndrome	Micrognathia, Microdontia, Thin upper lip vermilion, Smooth philtrum, Vertebral segmentation defe...	ORPHA:1915
Branchioskeletogenital Syndrome	Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Hypoplasia of the maxilla, Downturned co...	ORPHA:1299
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Broad foot, Short neck, Short palm, Short foot, Short toe, Ham...	OMIM:269860
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys...	OMIM:617719
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Slender long bone, Patellar hypoplasi...	OMIM:613803
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Abnormality of the dentition, Long philtrum, Smooth philtrum, Microcephaly, Biparietal narrowing,...	ORPHA:261190
Orofaciodigital Syndrome Ix	Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Microcephaly, ...	OMIM:258865
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst, Clinodactyly of the 5th finger, Glossoptosis, Biparieta...	ORPHA:2031
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pes planu...	OMIM:190350
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Secondary microcephaly,...	OMIM:620073
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the ph...	OMIM:208500
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M...	OMIM:258860
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Talipes equinovarus, Short nec...	OMIM:611209
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin...	OMIM:608940
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo...	OMIM:157980
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, Hy...	OMIM:602418
Blepharophimosis-Impaired Intellectual Development Syndrome	Short distal phalanx of finger, Enuresis, Dental malocclusion, Plagiocephaly, Recurrent urinary t...	OMIM:619293
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv...	OMIM:114290
Hand-Foot-Genital Syndrome	Ulnar deviation of the 2nd finger, Chordee, Short hallux, Small thenar eminence, Hypospadias, Sho...	OMIM:140000
Joubert Syndrome	Abnormal form of the vertebral bodies, Hand polydactyly, Orofacial cleft, Biparietal narrowing, F...	ORPHA:475
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Scoliosis, Dental malocclusion, Lumbar hyperlordosis, Limited elbow e...	OMIM:619719
Gm1-Gangliosidosis, Type I	Abnormality of the urinary system, Frontal bossing, Gingival overgrowth, Hypoplastic vertebral bo...	OMIM:230500
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Renal hyp...	ORPHA:959
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Secondary microcephaly, Failure to thrive in infancy, Elbow flexion co...	ORPHA:85285
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Stuve-Wiedemann Syndrome 1	Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Talipe...	OMIM:601559
Smith-Mccort Dysplasia 2	Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Decreased body weight, Shor...	OMIM:615222
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv...	OMIM:268310
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Pectus carinatum, Delayed eruption of teeth, Thick lower lip vermilio...	OMIM:619797
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Cri-Du-Chat Syndrome	Short neck, Pes planus, Abnormality of the kidney, High palate, Hypospadias, Short metacarpal, An...	OMIM:123450
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact...	OMIM:308050
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Talipes equinovaru...	OMIM:134780
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Rhizomelia, Renal hypoplasia, Narrow chest, 11...	OMIM:617661
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Short tibia, Micrognathia, Short neck, Cleft lip, Hamartoma of tongue, Horizontal ri...	OMIM:617925
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Frontal bossing, Rectou...	OMIM:603116
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Hypospadias, S...	ORPHA:2438
Joubert Syndrome With Ocular Defect	Abnormal vertebral morphology, Hand polydactyly, Orofacial cleft, Biparietal narrowing, Foot poly...	ORPHA:220493
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small...	OMIM:268305
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Image Syndrome	Micromelia, Frontal bossing, Hydronephrosis, Metaphyseal dysplasia, Hypospadias	ORPHA:85173
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture...	ORPHA:1145
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Renal dysplasia, Access...	OMIM:277170
Campomelic Dysplasia	Small abnormally formed scapulae, Narrow chest, Kyphosis, Macrocephaly, 11 pairs of ribs, Microgn...	ORPHA:140
Robinow Syndrome	Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Micrognathia, Marked delay in eru...	ORPHA:97360
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S...	ORPHA:166016
Macdermot-Winter Syndrome	Hydronephrosis, Microcephaly, Camptodactyly of finger	OMIM:247990
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Pectus carinatum, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis...	OMIM:271530
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs of ribs, Sp...	OMIM:617877
Peho Syndrome	Abnormal upper lip morphology, Gingival overgrowth, Open mouth, Malar flattening, Abnormal palate...	ORPHA:2836
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes equi...	OMIM:182212
Hallermann-Streiff Syndrome	Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, High palate, Hig...	OMIM:234100
Hyperparathyroidism, Transient Neonatal	Thin ribs, Unilateral renal agenesis, Fractured rib, Narrow chest, Metaphyseal spurs, Femoral bow...	OMIM:618188
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
C Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Bilateral single transverse palmar cr...	ORPHA:1308
Schwartz-Jampel Syndrome	Elbow dislocation, Pursed lips, Abnormality of the ureter, Micrognathia, Genu valgum, Narrow mout...	ORPHA:800
Blomstrand Lethal Chondrodysplasia	Platyspondyly, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morphology,...	ORPHA:50945
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Pseudodiastrophic Dysplasia	Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Failure to thrive, Elbow dislocati...	OMIM:264180
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Vertebral segmentation de...	ORPHA:1570
Pyknoachondrogenesis	Craniofacial hyperostosis, Unossified sacrum, Short iliac bones, Micromelia, Horizontal ribs, Sho...	ORPHA:3003
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Joint contracture of the hand, Natal tooth, Fibular aplasia, Microg...	OMIM:300373
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Lower Limb Malformation-Hypospadias Syndrome	Lower limb asymmetry, Abnormal tibia morphology, Abnormality of the ureter, Short neck, Hypospadi...	ORPHA:2487
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Mic...	OMIM:260660
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi...	OMIM:616202
Kabuki Syndrome	Small hand, Renal hypoplasia/aplasia, Vertebral clefting, Duplicated collecting system, High pala...	ORPHA:2322
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Hydroxyprolinuria, Sandwich appearance of vertebral bodies, Femoral ...	OMIM:602080
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Bilateral cleft lip, Scoliosi...	OMIM:601357
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Toe syndactyly, Long philtrum, Camptodactyly of finger, Frontal bossin...	ORPHA:261337
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula...	OMIM:200980
Recombinant Chromosome 8 Syndrome	Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l...	OMIM:179613
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen...	OMIM:184250
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Wide anterior fontanel, Abnormal epiphysis morphology...	ORPHA:3098
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Narrow chest, Thoracic hypoplasia, Long philtrum, Widely spaced teeth, Frontal bossing, Trident p...	OMIM:619479
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Schinzel-Giedion Midface Retraction Syndrome	Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Long clavicles, Hypospadia...	OMIM:269150
Ulbright-Hodes Syndrome	Thin ribs, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Talipes equinova...	ORPHA:3404
Atelosteogenesis, Type Iii	Radial bowing, Elbow dislocation, Micrognathia, Talipes equinovarus, Short neck, Cervical segment...	OMIM:108721
Cerebellar-Facial-Dental Syndrome	Macrodontia of permanent maxillary central incisor, Foot joint contracture, Slender long bone, De...	ORPHA:444072
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Mucopolysacchariduria, Broad thumb, Broad hallux	OMIM:272200
Endove Syndrome, Limb-Brain Type	Toe syndactyly, Talar aplasia, Failure to thrive, Recurrent urinary tract infections, Hydronephro...	OMIM:619218
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Cutaneous finger syndactyly, Type...	OMIM:113000
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sand...	ORPHA:210110
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu...	OMIM:600002
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man...	OMIM:602483
Congenital Myopathy 17	Hand clenching, Renal hypoplasia, Narrow chest, Dental malocclusion, Clinodactyly, Long philtrum,...	OMIM:618975
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral...	OMIM:184252
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Clinodactyly, Pancytopenia, Hypomethioninemia, Macrocytic anem...	ORPHA:2169
Kury-Isidor Syndrome	Scoliosis, Finger syndactyly, Long philtrum, Widely spaced teeth, Frontal bossing, Tented upper l...	OMIM:619762
Hajdu-Cheney Syndrome	Periodontitis, Open bite, Micrognathia, Narrow mouth, Absent frontal sinuses, Bowing of the long ...	ORPHA:955
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Short neck, Syndactyly, Cleft lip, Downturned corners of...	OMIM:616894
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Brachyolmia Type 1, Toledo Type	Lumbar hyperlordosis, Precocious costochondral ossification, Abnormal odontoid process morphology...	OMIM:271630
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Kyphosis, Short mandibular rami	OMIM:141300
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Micrognathia, Talipe...	OMIM:154400
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Decreased body weight, High palate, Thor...	OMIM:618371
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Sclerosteosis 1	Tooth malposition, Abnormal pelvic girdle bone morphology, Broad clavicles, Deviation of finger, ...	OMIM:269500
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Macrocephaly, Renal insufficiency, Orofacial cleft, Bi...	ORPHA:1454
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormality of the ureter, Abnormal hip bone morphology, Micrognath...	ORPHA:2522
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Flattened femoral head, Platyspondyly, Hump-shaped mound of bone in central and posterior portion...	ORPHA:99642
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Abnormality of the dentition, Carious teeth, Dental malocclusion, Velo...	ORPHA:363444
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Open bite, Renal hypoplasia/apla...	ORPHA:2092
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec...	OMIM:253000
Oliver Syndrome	Postaxial foot polydactyly, Dental malocclusion, Short toe, Prominent fingertip pads, Camptodacty...	ORPHA:2920
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Vertebral Hypoplasia With Lumbar Kyphosis	Lumbar kyphosis, Vertebral hypoplasia	OMIM:192900
Van Maldergem Syndrome 1	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus...	OMIM:601390
Mucolipidosis Type Iv	Genu recurvatum, Palmoplantar keratoderma, Microdontia, Microcephaly, Everted lower lip vermilion...	ORPHA:578
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Overlapping toe, Open mouth, Thoracolumba...	OMIM:616580
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Broad femoral neck, Irregular epiphyses, A...	OMIM:132400
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Abnormal form of the v...	ORPHA:1834
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Severe...	ORPHA:3472
Braddock Syndrome	Unilateral renal agenesis, Failure to thrive, Preaxial hand polydactyly, Micrognathia, Missing ri...	ORPHA:52047
Macrocephaly/Autism Syndrome	Long philtrum, Frontal bossing, Postnatal macrocephaly, Obesity, Penile freckling, Large for gest...	OMIM:605309
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, 11 pairs of ribs, Bicoronal synostosis, Oligodontia, H...	OMIM:619184
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Microphthalmia, Lenz Type	Abnormality of the dentition, Hydroureter, Finger syndactyly, Delayed eruption of teeth, Camptoda...	ORPHA:568
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod...	ORPHA:429
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno...	ORPHA:137888
Multiple Epiphyseal Dysplasia, Beighton Type	Genu valgum, Intervertebral space narrowing, Reduced proximal interphalangeal joint space, Pedal ...	ORPHA:166011
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Slender build, Narrow mouth, Hypospadias, Irregular sclerotic endplates, Hypoplastic...	ORPHA:3455
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Thoracic Dysostosis, Isolated	Pectus excavatum, Bell-shaped thorax, Short ribs	OMIM:187750
Baller-Gerold Syndrome	Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narr...	OMIM:218600
Odontoid Hypoplasia	Atlantoaxial instability, Hypoplasia of the odontoid process, Dystopic os odontoideum, Cervical i...	OMIM:613628
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Genu valgum, Hydronephrosis, Microcephaly, Brachycephaly, Macrocephaly, ...	OMIM:617798
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Microcephaly, Bra...	OMIM:617604
Myopathy, Myofibrillar, 8	Dental malocclusion, Micrognathia, Pes cavus, Joint contracture of the 5th finger, Pes planus, Sc...	OMIM:617258
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Irregular ...	OMIM:226980
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Dental malocclusion, Clinodactyly, Downturned corners of ...	OMIM:616737
Van Maldergem Syndrome 2	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus...	OMIM:615546
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1350
Fanconi Anemia, Complementation Group S	Dental malocclusion, Clinodactyly, Failure to thrive, Thick upper lip vermilion, Macrodontia, Mic...	OMIM:617883
Shwachman-Diamond Syndrome	Aplastic anemia, Abnormal joint morphology, Hypopituitarism, Pancytopenia, Increased serum bile a...	ORPHA:811
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Biparietal narrowing, Pectus excavatum, Abnormal metaphysis morphology, Long fibula	ORPHA:935
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Frontal bossing, Micrognathia, Abnormal...	ORPHA:93329
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Brachyturricephaly, Frontal bossing, Failure to...	ORPHA:1225
Ritscher-Schinzel Syndrome 1	Micrognathia, Prominent occiput, Missing ribs, Hydronephrosis, Brachycephaly, Hemivertebrae, Hypo...	OMIM:220210
Diaphanospondylodysostosis	Unossified sacrum, Thoracic hypoplasia, Delayed vertebral ossification, Nephrogenic rest, Nephrob...	OMIM:608022
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Bell-sh...	ORPHA:485
3C Syndrome	High, narrow palate, Finger syndactyly, Frontal bossing, Abnormal hip bone morphology, Micrognath...	ORPHA:7
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Narrow mouth, Talipes equinovarus, ...	OMIM:616145
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Microcephaly, Abnormal rib morphology, Micro...	ORPHA:2519
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Noonan Syndrome 4	Dental malocclusion, Abnormal sternum morphology, Macrocephaly, Large for gestational age, Pectus...	OMIM:610733
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Small thenar eminence, High palate, Hypoplastic ilia, Hypoplastic coccy...	OMIM:105650
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Renal hypop...	ORPHA:958
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, G...	ORPHA:666
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Dental malocclusion, Diastema, Micrognathia, Malar flattening, Short neck, Brachydactyly	ORPHA:436245
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os...	ORPHA:93356
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Renal agenesis, Ectrodactyly, Median pseudocleft ...	OMIM:619648
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp...	OMIM:615234
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Decreased body...	OMIM:271640
Multiple Pterygium Syndrome, Escobar Variant	Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia, Narrow mouth, Arachno...	OMIM:265000
Trisomy 20P	Finger syndactyly, Abnormality of the ureter, Micrognathia, Talipes, Short neck, Everted lower li...	ORPHA:261318
Trisomy 13	High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Narrow...	ORPHA:3378
Kniest Dysplasia	Delayed epiphyseal ossification, Hip contracture, Short neck, Lumbar kyphoscoliosis, Genu varum, ...	OMIM:156550
Lessel-Kreienkamp Syndrome	Plagiocephaly, Dental malocclusion, Scaphocephaly, Open mouth, Thin upper lip vermilion, Clinodac...	OMIM:619149
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Uretera...	ORPHA:2437
Cooper-Jabs Syndrome	Camptodactyly of finger, Frontal bossing, Abnormal hip bone morphology, Malar flattening, Missing...	ORPHA:1488
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Hydronephrosis, Abnormal rib morphology, Abnormal localization of kidne...	ORPHA:195
Squalene Synthase Deficiency	Slender long bone, Elevated urine mesaconic acid level, Bilateral cryptorchidism, Elbow flexion c...	OMIM:618156
Cranioectodermal Dysplasia 2	Clinodactyly, Micrognathia, Short neck, Everted lower lip vermilion, High palate, Cloverleaf skul...	OMIM:613610
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Genu valgum, Beaking of vertebral bodie...	ORPHA:1159
Progeria-Short Stature-Pigmented Nevi Syndrome	Short distal phalanx of finger, Bifid uvula, Dental malocclusion, Selective tooth agenesis, Micro...	ORPHA:2959
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Recurrent urinary tract infect...	OMIM:620494
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Suleiman-El-Hattab Syndrome	Microretrognathia, Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip verm...	OMIM:618950
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Abnormality of the ureter, Micrognathia, Narrow mouth, Renal hypoplasia/aplasia, Micr...	ORPHA:1046
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna...	OMIM:227270
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Platyspondyly, Short femoral neck, Knee dislocation, Obesity, Narrow vertebral interpe...	OMIM:618395
Kabuki Syndrome 2	Short 5th finger, Natal tooth, Prominent fingertip pads, Dental malocclusion, Horseshoe kidney, M...	OMIM:300867
X-Linked Dominant Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Lower limb asymmetry, Frontal bossing, Epiphyseal stippling, Uppe...	ORPHA:35173
Autosomal Recessive Spondylocostal Dysostosis	Scoliosis, Finger syndactyly, Long philtrum, Camptodactyly of finger, Abnormal rib morphology, Ab...	ORPHA:2311
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion...	ORPHA:83451
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Long philtrum, Limited elbow flexion, Mi...	OMIM:258315
Mucopolysaccharidosis Type 4	Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Mucopolysacch...	ORPHA:582
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh...	OMIM:251450
Cloacal Exstrophy	Hydroureter, Ureterocele, Bladder exstrophy, Abnormal tibia morphology, Horseshoe kidney, Vesicou...	ORPHA:93929
Ollier Disease	Platyspondyly, Micromelia, Abnormal cartilage morphology, Multiple enchondromatosis, Abnormal met...	ORPHA:296
Bardet-Biedl Syndrome 19	Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Obesity, Renal insuffic...	OMIM:615996
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Microcephaly, Scoliosis, Biparietal narrowing	ORPHA:2518
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ...	OMIM:112350
Frank-Ter Haar Syndrome	Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of the long bones, Talipes equinov...	OMIM:249420
Trisomy 17P	Micrognathia, Narrow mouth, Talipes, Short neck, High palate, Polycystic kidney dysplasia, Orofac...	ORPHA:261290
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio...	OMIM:246700
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Recu...	OMIM:613680
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Micromelia, Metaphyseal spurs, Thoracic hypoplasia, Irregular epiphyses, Posterior...	OMIM:608728
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Failure of eruption of permanen...	ORPHA:2769
Shprintzen-Goldberg Syndrome	Elbow dislocation, Genu valgum, Micrognathia, Arachnodactyly, Bowing of the long bones, Pes planu...	ORPHA:2462
Shox-Related Short Stature	Obesity, Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb unde...	ORPHA:314795
Faciocardiomelic Syndrome	Narrow chest, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Long philtrum, ...	OMIM:612731
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue,...	ORPHA:2759
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Obesity, Hydronephrosis, ...	OMIM:620511
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Small hand, Rib exostoses, Natal tooth, Microg...	ORPHA:2108
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Narrow palate, Dental malocclusion, Wide mouth, Down-sloping should...	OMIM:227330
Hajdu-Cheney Syndrome	Genu valgum, Micrognathia, Fibular bowing, Narrow mouth, Absent frontal sinuses, Crowded carpal b...	OMIM:102500
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Failure to thrive, 11 pairs of ribs, Micrognathia, Microcephaly, Glossoptosis, Cleft palate, Hype...	OMIM:618356
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broa...	ORPHA:1507
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Hypomethioninemia, Meg...	OMIM:277410
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Flat...	OMIM:300232
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Foot polydactyly, Short metacarpal, Oligodontia, Hypodonti...	OMIM:305600
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Arachnodactyly, Slender toe, Macrocephaly, Dolichocephaly, High palate	OMIM:310400
Zimmermann-Laband Syndrome	Bifid uvula, Deep plantar creases, Overtubulated long bones, Micrognathia, Pes cavus, Wide mouth,...	ORPHA:3473
Orofaciodigital Syndrome Xv	Midline notch of upper alveolar ridge, Broad hallux, Hydronephrosis, Duplication of phalanx of ha...	OMIM:617127
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Abnormality of the dentition, Renal hypoplasia, Dental malocclusion, Thick lower lip vermilion, M...	ORPHA:85321
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Bilateral...	OMIM:253010
Cardiofaciocutaneous Syndrome 1	Open bite, Micrognathia, Open mouth, Short neck, High palate, Multiple plantar creases, Hyperexte...	OMIM:115150
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormality of the urinary system, Ureteral stenosis, Narrow mouth, Abnormal thumb morphology, Ab...	ORPHA:2719
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Microlissencephaly-Micromelia Syndrome	Micromelia, Long philtrum, Failure to thrive, Secondary microcephaly, 11 pairs of ribs, Bilateral...	ORPHA:50810
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Horseshoe kidney, Horizontal ribs, Short ribs, Postaxial pol...	OMIM:617088
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Thoracopelvic Dysostosis	Short ribs	OMIM:187770
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Abnormal palate morphology, Hydronephrosis, Short neck	ORPHA:251046
Hamamy Syndrome	Micrognathia, Everted lower lip vermilion, High palate, Syndactyly, Thin upper lip vermilion, Hyp...	OMIM:611174
Koolen-De Vries Syndrome	Arachnodactyly, Everted lower lip vermilion, Hypospadias, Hip dislocation, High, narrow palate, R...	ORPHA:96169
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Retrognathia, Talipes equinovalgus, Macrocephaly, Overlapping fingers...	OMIM:301056
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Abnormal renal collecting system morphology, Methylmalonic aciduria...	ORPHA:17
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Natal tooth, Clinodactyly, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck...	OMIM:264090
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Hydronephrosis, Ri...	OMIM:271520
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Moderate albuminuria, Dentinogenesis imperfecta, Scoliosis, Periodontitis, Short t...	OMIM:619269
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Obesity, Hypodontia, Postax...	OMIM:181450
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Pes planus, Thoracolumbar scoli...	ORPHA:457395
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Mandibular prognathia, Hypoplastic coccygeal vertebrae, Plagiocephaly...	OMIM:619512
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Clinodactyly, Dental malocclusion, Down-sloping shoulders, Rena...	OMIM:615560
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Frontal bossing, Hemiatrop...	OMIM:302960
Short Syndrome	Dental malocclusion, Radial deviation of finger, Slender long bone, Clinodactyly, Downturned corn...	OMIM:269880
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Abnormal oral mucosa morphology, Multicystic kidney dysplasia, Hyd...	ORPHA:79404
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi...	OMIM:150250
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Micrognathia, Bilateral single transverse palmar creases, Hydronephrosis...	ORPHA:2083
Cree Impaired Intellectual Development Syndrome	Cutaneous finger syndactyly, Micrognathia, Cleft soft palate, Brachycephaly, Aplasia/Hypoplasia o...	OMIM:606851
Marden-Walker Syndrome	Multicystic kidney dysplasia, Micrognathia, Narrow mouth, Renal hypoplasia/aplasia, Arachnodactyl...	ORPHA:2461
Phelan-Mcdermid Syndrome	Dental malocclusion, Long philtrum, Widely spaced teeth, Macrocephaly, Micrognathia, Vesicoureter...	OMIM:606232
Mosaic Trisomy 8	Narrow chest, Deep plantar creases, Camptodactyly of finger, Frontal bossing, Micrognathia, Vesic...	ORPHA:96061
Spondyloenchondrodysplasia	Chronic kidney disease, Hypoplastic ilia, Short distal phalanx of finger, Pectus carinatum, Denta...	ORPHA:1855
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Broad clavicles, Delayed eruption of teeth, Rhizomelic arm shortening, Trigonocephaly, Gingival o...	ORPHA:508542
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Failure to thrive, Diastema, Micrognathia, Hydronephrosis, Short philt...	OMIM:609757
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Failure to thrive, Trigonocephaly, Micrognathia, Thin upper lip vermilion, D...	ORPHA:329178
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Micrognathia, Short foot, Preaxial hand polydactyly, Short tho...	ORPHA:93271
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Hyp...	OMIM:210720
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Polydactyly, Talipes, Hydronephrosis, Ve...	ORPHA:531151
8P23.1 Duplication Syndrome	Hydronephrosis, Toe syndactyly, Long philtrum, Thick vermilion border	ORPHA:251076
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Short neck, Pes planus, Cervi...	ORPHA:508498
Bone Marrow Failure Syndrome 6	Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope...	OMIM:618849
Monosomy 9P	Micrognathia, Narrow mouth, Bilateral single transverse palmar creases, Short neck, High palate, ...	ORPHA:261112
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Hypoplasia...	OMIM:613390
8Q24.3 Microdeletion Syndrome	Secondary microcephaly, Talipes, Short neck, Pes planus, Short hallux, Abnormality of the kidney,...	ORPHA:508488
Hyperphosphatasia-Intellectual Disability Syndrome	Bifid uvula, Plagiocephaly, Clinodactyly, Downturned corners of mouth, Micrognathia, Tented upper...	ORPHA:247262
Trisomy 1Q	Multicystic kidney dysplasia, Toe syndactyly, Microretrognathia, Abnormal rib morphology, Camptod...	ORPHA:261344
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Abnormal metacarpal mo...	ORPHA:1452
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor...	OMIM:164900
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Persistence of he...	OMIM:617052
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Raine Syndrome	Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Bowing of the long bones...	OMIM:259775
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter, Wide anterior fontanel, Macrocephaly	OMIM:618240
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Vertebral segmentation def...	OMIM:618845
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Micrognathia, Genu valgum, Narrow mouth, Talipes equinovarus, Radioulnar syn...	OMIM:245600
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Macrodontia of permanent maxillary central incisor, Narrow palate, Macrocephaly,...	ORPHA:364028
1Q21.1 Microdeletion Syndrome	Broad thumb, Toe syndactyly, Failure to thrive, Long philtrum, Frontal bossing, Ankyloglossia, Cl...	ORPHA:250989
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis	OMIM:612913
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:1263
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Gabriele-De Vries Syndrome	Abnormality of the dentition, Sandal gap, Thick lower lip vermilion, Micrognathia, Ureteropelvic ...	OMIM:617557
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Short thumb, Horseshoe kidney, Vesicoureteral refl...	OMIM:612562
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai...	OMIM:122600
Craniometadiaphyseal Dysplasia	Wide anterior fontanel, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis, ...	OMIM:269300
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f...	OMIM:180700
Coffin-Lowry Syndrome	Open mouth, Decreased body weight, Pes planus, Everted lower lip vermilion, High palate, Short me...	OMIM:303600
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Short thumb, Persistence of hemoglobin F, Micrognathia, Macroc...	OMIM:612561
Congenital Myopathy 19	Micrognathia, Renal atrophy, Bell-shaped thorax, Hydronephrosis, High palate, Scoliosis	OMIM:618578
7Q11.23 Microduplication Syndrome	Micrognathia, Short lingual frenulum, Short neck, Pes planus, High palate, Hypospadias, Obesity, ...	ORPHA:96121
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Broad foot, Talipes equinovarus, 2-3 finger syndac...	OMIM:312870
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Silver-Russell Syndrome 1	Urethral valve, Small for gestational age, Downturned corners of mouth, Frontal bossing, Abnormal...	OMIM:180860
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly, Steatorrhea,...	OMIM:266510
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Sandal gap, Abnormality of the ureter, Obesity, Genu valgum, Arachnodactyly, High pal...	ORPHA:1035
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Pursed lips, Long philtrum, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Knee flexi...	OMIM:616266
Vater/Vacterl Association	Abnormal vertebral morphology, Hypospadias, Short thumb, Renal agenesis, Preaxial polydactyly, Ab...	OMIM:192350
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Clinodactyly, Protruding tongue, Absent frontal sinuses, Talipes equinovarus, Widely-spaced maxil...	OMIM:301040
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Aplasia of the pectoralis major muscle, Long philtrum, Aplasia/Hypopla...	ORPHA:1358
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Rickets, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hy...	OMIM:611590
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
15q26 overgrowth syndrome	Micrognathia, Arachnodactyly, Short neck, Abnormality of the kidney, Abnormal finger morphology, ...	DECIPHER:81
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Avascular necrosis of the ca...	OMIM:184100
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Genu valgum, Micrognathia, Cleft soft palate, Metaphyseal dysplasia, A...	ORPHA:93316
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Joint contracture of the hand, Retrognathia, Long philtrum, Kyphoscoliosis, ...	OMIM:612513
Genitopatellar Syndrome	Hypoplastic ilia, Multicystic kidney dysplasia, Delayed eruption of teeth, Long philtrum, Microgn...	ORPHA:85201
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Narrow mouth, Bilateral single transverse palmar creases, Pes planu...	ORPHA:261349
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Micrognathia, Fibular bowing, Short neck, Ab...	ORPHA:1427
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphol...	ORPHA:1133
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micrognathia, Bilateral single transverse palmar creases, Short neck, Abnormal metacarpal morphol...	ORPHA:2636
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Short rib...	OMIM:616546
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Overlapping fing...	ORPHA:464738
Koolen-De Vries Syndrome	Open mouth, Narrow palm, Everted lower lip vermilion, High palate, Hip dislocation, Slender finge...	OMIM:610443
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Distal Triplication 15Q	Dilatation of the renal pelvis, Retrognathia, Abnormal sternum morphology, Horseshoe kidney, Larg...	ORPHA:314588
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Dental malocclusion, Clinodactyly, Downturned corners of ...	ORPHA:487796
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short metacarpal, S...	OMIM:616723
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, P...	OMIM:618727
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,...	OMIM:206920
White-Sutton Syndrome	Bifid uvula, Mandibular prognathia, Broad thumb, Hypoplastic cervical vertebrae, Downturned corne...	OMIM:616364
Penoscrotal Transposition	Penoscrotal transposition, Pectus carinatum, Abnormality of the urethra, Renal agenesis, Abnormal...	ORPHA:2842
Joubert Syndrome 37	Lumbar hyperlordosis, Obesity, Postaxial polydactyly, Hydronephrosis, Micropenis, High palate, Fr...	OMIM:619185
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Foot polydactyly, Renal hypoplasia/aplasia, Missing ribs, Aplasia/Hypoplasia of the thumb, Median...	ORPHA:3186
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Nephrocalcinosis, Dental crowding, Delayed eruption ...	OMIM:300990
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Cleft lip, Preaxial polydactyly, Hamartoma of tongu...	OMIM:615948
Pfeiffer Syndrome Type 3	Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Brachyturricephaly, Horseshoe kidney,...	ORPHA:93260
Oslam Syndrome	Radioulnar synostosis, Abnormality of neutrophils, Clinodactyly of the 5th finger, Increased mean...	ORPHA:2760
Linear Nevus Sebaceus Syndrome	Genu recurvatum, Plagiocephaly, Prominent occiput, Vertebral segmentation defect, Biparietal narr...	ORPHA:2612
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Hi...	OMIM:608776
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti...	ORPHA:83468
Beta-Thalassemia Intermedia	Osteopenia, Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of he...	ORPHA:231222
6Q Terminal Deletion Syndrome	High, narrow palate, Plagiocephaly, Clinodactyly, Failure to thrive, Talipes calcaneovalgus, Macr...	ORPHA:75857
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Abnormal vertebr...	OMIM:600383
Tarp Syndrome	Clinodactyly, Failure to thrive, Horseshoe kidney, Micrognathia, Glossoptosis, Single transverse ...	OMIM:311900
Smith-Magenis Syndrome	Toe syndactyly, Abnormality of the ureter, Micrognathia, Open mouth, Renal hypoplasia/aplasia, De...	ORPHA:819
Al-Gazali Syndrome	Broad distal phalanx of finger, Failure to thrive, Micrognathia, Hydronephrosis, Bowed humerus, W...	OMIM:609465
3Mc Syndrome 1	Short 5th finger, Lambdoidal craniosynostosis, Coronal craniosynostosis, Cleft lip, Caudal append...	OMIM:257920
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole...	OMIM:615558
Distal Deletion 12Q	Overlapping toe, Micrognathia, Short neck, Large hands, Polycystic kidney dysplasia, Ectopic kidn...	ORPHA:96149
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Abnormal ilium morphology, Short distal phalanx of finger, Deep plantar creases, Long philtrum, F...	OMIM:614080
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Long ...	OMIM:618494
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Steatorrhea, Conjugated hyperbilirubinemia	OMIM:607765
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Calvarial skull de...	ORPHA:1647
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Rhizomelia, Narrow chest, Micromelia, Long philtrum, Crumpled long bon...	OMIM:610682
Noonan Syndrome 12	Pectus excavatum, 11 pairs of ribs, Proximal placement of thumb, Spinal canal stenosis	OMIM:618624
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Frontal bossing, Micrognathia,...	OMIM:259420
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Ectopic kidn...	OMIM:146510
Spondyloepiphyseal Dysplasia Congenita	Hypoplasia of the odontoid process, Delayed pubic bone ossification, Barrel-shaped chest, Limited...	OMIM:183900
Wiedemann-Steiner Syndrome	Rhizomelia, Clinodactyly, Long philtrum, Failure to thrive, Thin upper lip vermilion, Microcephal...	ORPHA:319182
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Renal phosphate wasting, Calcium nephrolithiasis, Flat occiput, ...	OMIM:241530
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Talipes equinovarus, Pes planus,...	OMIM:180849
Prune Belly Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurre...	ORPHA:2970
Basel-Vanagaite-Smirin-Yosef Syndrome	Pectus carinatum, Retrognathia, Furrowed tongue, Tented upper lip vermilion, Single transverse pa...	OMIM:616449
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ...	OMIM:618150
Diabetic Embryopathy	Micrognathia, Renal hypoplasia/aplasia, Hydronephrosis, Vertebral segmentation defect, Microcepha...	ORPHA:1926
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Everted lower lip vermili...	OMIM:280000
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	OMIM:313400
Relapsing Polychondritis	Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Hematuria, Proteinuria, Glomerulo...	ORPHA:728
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Generalized aminoaciduria, Flat o...	OMIM:264700
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Short neck, Abnormal metacarpal morpholog...	OMIM:268300
Osteogenesis Imperfecta, Type Ii	Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Steinfeld Syndrome	Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Unilateral renal...	OMIM:184705
Dysostosis, Stanescu Type	Carious teeth, Bowing of the long bones, Short neck, Hypoplasia of the maxilla, Brachydactyly, Hy...	ORPHA:1798
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra...	OMIM:616834
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Hypospadias, Hy...	OMIM:211380
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Clinodactyly, Hypo...	OMIM:614813
Intellectual Developmental Disorder, X-Linked 58	Short philtrum, Dental malocclusion	OMIM:300210
Xylt1-Cdg	Broad thumb, Clinodactyly, Flared metaphysis, Long philtrum, Broad ribs, Short clavicles, Microce...	ORPHA:370930
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Peroxisome Biogenesis Disorder 1A (Zellweger)	Micrognathia, Bell-shaped thorax, Protruding tongue, Talipes equinovarus, High palate, Albuminuri...	OMIM:214100
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Microcephaly, Contracture of the proximal interphalangeal joint of the 5th finger...	OMIM:620141
Microphthalmia, Syndromic 3	Frontal bossing, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Microcephaly,...	OMIM:206900
Arthrogryposis Multiplex Congenita 5	Hand clenching, Long philtrum, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Medulla...	OMIM:618947
Zellweger Syndrome	Multicystic kidney dysplasia, Failure to thrive, Micrognathia, Epiphyseal stippling, Hydronephros...	ORPHA:912
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Flat occiput, Bulging epiphyses, Failure to thrive, Frontal boss...	OMIM:600081
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Ra...	OMIM:307800
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Clinodactyly, High palate, Flat occiput, Coronal craniosynostosis, H...	OMIM:614188
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Malar flattening, Widely spaced teeth	OMIM:616108
Nestor-Guillermo Progeria Syndrome	Thin ribs, Microretrognathia, Dental malocclusion, Dental crowding, Failure to thrive, Micrognath...	OMIM:614008
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad...	ORPHA:300298
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Barrel-shaped chest, Hydronephrosis, Thin upper lip vermilion, Microcep...	OMIM:300712
Multiple Osteochondromas	Rib exostoses, Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the lo...	ORPHA:321
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Open bite, Open mouth, Talipes equ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Open bite, Open mouth, Talipes equ...	ORPHA:352665
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Small hand, Abnormality of the dentition, Lower limb asymmetry, Renal dysplasia, Lon...	OMIM:300968
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle...	ORPHA:392
Distal Duplication 6P	Renal hypoplasia, Abnormality of the urinary system, Micrognathia, Narrow mouth, Long thorax, Hyd...	ORPHA:1745
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Carpenter Syndrome 2	Broad thumb, Carious teeth, Cutaneous finger syndactyly, Talipes equinovarus, Short neck, High pa...	OMIM:614976
Feingold Syndrome Type 1	Nephritis, Toe syndactyly, Short thumb, Renal dysplasia, Short middle phalanx of finger, Horsesho...	ORPHA:391641
Tetrasomy 15Q26	Microretrognathia, Horseshoe kidney, Kyphoscoliosis, Arachnodactyly, Hydronephrosis, Camptodactyl...	OMIM:614846
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Micrognathia, Hepatomegaly, Micropenis, Hydrocele testis	OMIM:618810
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Rhizomelia, Microretrognathia, Narrow chest, Tooth agenesis, Decreased calvarial o...	OMIM:616229
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Plagiocephaly, Downturned corners of mouth, Hydronephrosis, Thin upper lip ver...	ORPHA:457193
Vacterl/Vater Association	Hypospadias, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the u...	ORPHA:887
Alagille Syndrome	Short distal phalanx of finger, Nephrotic syndrome, Abnormal form of the vertebral bodies, Failur...	ORPHA:52
Doors Syndrome	Equinovarus deformity, Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of...	ORPHA:79500
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Finger syndactyly, Open bite, Micrognathia, Foot polydactyly, High ...	ORPHA:2750
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Micrognathia, Narrow mouth...	ORPHA:3301
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Micrognathia, High palate, Short foot, Long fingers, Unilateral ren...	OMIM:614527
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Genu valgum, Urinary glycosaminoglycan excretion, Talipes equ...	OMIM:253220
Alg12-Cdg	Hypoalbuminemia, Sandal gap, Hypocholesterolemia, Overlapping fingers, Micrognathia, Cryptorchidi...	ORPHA:79324
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Flat occiput, Bulg...	OMIM:277440
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	High palate, Dental malocclusion, Mandibular prognathia	OMIM:608931
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Patellar dislocation, Hypospadia...	ORPHA:353281
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Microcephaly, Tapered finger, Short humerus, Short femur	OMIM:618367
Intellectual Developmental Disorder, Autosomal Dominant 42	Hand clenching, Failure to thrive, Postnatal macrocephaly, Ureteropelvic junction obstruction, Li...	OMIM:616973
Osteogenesis Imperfecta, Type Xiii	Enuresis nocturna, Dentinogenesis imperfecta, Pectus carinatum, Platyspondyly, Long philtrum, Wid...	OMIM:614856
Maternal Uniparental Disomy Of Chromosome 4	Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abetalipoproteinemia, Eleva...	ORPHA:96180
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia, Duplicated col...	OMIM:270400
Kinsship Syndrome	Ankyloglossia, Micrognathia, Short neck, Pes planus, Dislocated radial head, Hip dislocation, Dow...	OMIM:619297
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Abnormality of the urinary system, Small hypothenar eminence, Retrognathia, ...	ORPHA:96092
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Occipital Horn Syndrome	Humerus varus, Genu valgum, Pes planus, Abnormal fibula morphology, Short palm, Hip dislocation, ...	ORPHA:198
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Pes cavus, Increased HbA2 hemoglobin, Increased bone mineral density, D...	OMIM:616943
Dubowitz Syndrome	Small hand, Broad thumb, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, High pala...	ORPHA:235
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Retrognathia, Long philtrum, Failure to thrive, Trigonocephaly, Micrognathia, Duplic...	ORPHA:2995
Phosphoribosylaminoimidazole Carboxylase Deficiency	Lumbar hemivertebrae, Missing ribs, Talipes equinovarus, Short neck, Brachycephaly, Coronal hypos...	OMIM:619859
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
Cockayne Syndrome B	Carious teeth, Square pelvis bone, Dental malocclusion, Kyphosis, Small for gestational age, Fail...	OMIM:133540
Aarskog-Scott Syndrome	Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Broad foot, Short...	OMIM:305400
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
46,Xy Sex Reversal 4	Long philtrum, Trigonocephaly, Micrognathia, Ureteropelvic junction obstruction, Hydronephrosis, ...	OMIM:154230
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Clinodactyly, Failure to thrive, Frontal bossing, Micrognathia, Vesicoureteral ...	OMIM:618460
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Cockayne Syndrome A	Carious teeth, Square pelvis bone, Dental malocclusion, Kyphosis, Failure to thrive, Hypoplastic ...	OMIM:216400
Aicardi Syndrome	Small hand, Block vertebrae, Plagiocephaly, Cleft upper lip, Butterfly vertebrae, Prominence of t...	ORPHA:50
Musculocontractural Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Narrow mouth, High palate, Slender finger, Cleft lip, Cervical kyphosis...	ORPHA:2953
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Prune Belly Syndrome	Congenital hip dislocation, Pectus carinatum, Hydroureter, Hydronephrosis, Talipes equinovarus, P...	OMIM:100100
Monosomy 22Q13.3	Dental malocclusion, Dental crowding, Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, M...	ORPHA:48652
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Failur...	OMIM:620099
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carious teeth, Hypoplastic iliac wing, ...	OMIM:253200
Beta-Thalassemia Major	Anisopoikilocytosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobi...	ORPHA:231214
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Broad thumb, Toe syndactyly, Finger syndactyly, Broad foot, Talipes...	ORPHA:373
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal femur morphology, Abnormali...	ORPHA:3130
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Horseshoe kidney, Failure to thri...	ORPHA:2886
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Carious teeth, Grade III vesicoureteral reflux, Urethral stricture, Chordee, Broad toe, Urinary i...	OMIM:619522
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec...	OMIM:184095
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Floating-Harbor Syndrome	Carious teeth, Dilatation of the renal pelvis, Clinodactyly, Short neck, Broad fingertip, Disloca...	ORPHA:2044
Jacobsen Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hallux, Talipes, Short neck...	ORPHA:2308
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Ureteral triplication, Hydronephrosis, Cubitus valgus, Hemivertebrae,...	OMIM:104350
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Osteopenia, Proximal tubulopathy, Hypocholesterolemia, Tremor, Proteinuria, Rena...	OMIM:212065
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Kleefstra Syndrome	Talipes equinovarus, Everted lower lip vermilion, Hypospadias, Downturned corners of mouth, Obesi...	ORPHA:261494
22Q11.2 Duplication Syndrome	Micrognathia, Displacement of the urethral meatus, Hydronephrosis, Smooth philtrum, Microcephaly,...	ORPHA:1727
Pycnodysostosis	Aplastic clavicle, Narrow palate, Carious teeth, Spondylolysis, Frontal bossing, Persistence of p...	OMIM:265800
Hurler Syndrome	Hypoplasia of the odontoid process, Urinary glycosaminoglycan excretion, Short neck, Diaphyseal u...	OMIM:607014
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F...	OMIM:300554
Autosomal Recessive Spastic Paraplegia Type 20	Clinodactyly, Abnormal foot morphology, Abnormal hand morphology, Genu valgum, Pes cavus, Abnorma...	ORPHA:101000
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Diamond-Blackfan Anemia	Absent thumb, Short thumb, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Hors...	ORPHA:124
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Tibial torsion, Frontal bossing, Overlapping toe, Obesity, Vesicoureteral reflux, 2-3 toe syndact...	OMIM:618653
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, Cleft upper lip, 11 pairs of ribs, ...	OMIM:264480
Microphthalmia, Syndromic 2	Hand clenching, Contracture of the proximal interphalangeal joint of the 2nd toe, Decreased body ...	OMIM:300166
Webb-Dattani Syndrome	Retrognathia, Secondary microcephaly, Obesity, Vesicoureteral reflux, Hydronephrosis, Neurogenic ...	OMIM:615926
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Abnormality of the...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Abnormality of the...	ORPHA:353277
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Plagiocephaly, Downturned corners of mouth, Failure to thrive, Furrowed tongue, Vesi...	ORPHA:453499
Abetalipoproteinemia	Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apoli...	ORPHA:14
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Failure to thrive, Overlapping fingers, Micrognathia, Narrow mouth, Protruding tong...	OMIM:608779
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid proce...	OMIM:250250
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Clinodactyly, Long philtrum, Macrocephaly, 11 pairs of ribs, Tented upper li...	ORPHA:488632
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl...	OMIM:119800
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Ellis Van Creveld Syndrome	Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Renal hypoplasia/aplasia, Abn...	ORPHA:289
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit...	OMIM:113500
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Toe syndactyly, Hydroureter, Hypoplasia of the bladder, 3-4 toe syndactyly, Crossed fused renal e...	OMIM:300707
Martin-Probst Syndrome	Dental malocclusion, Thick lower lip vermilion, Micrognathia, Renal insufficiency, Malar flatteni...	OMIM:300519
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly	OMIM:608257
Leopard Syndrome 1	Unilateral renal agenesis, Mandibular prognathia, Pectus carinatum, Kyphoscoliosis, Missing ribs,...	OMIM:151100
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Broad foot, Decreased body weight, Limi...	OMIM:261540
Jacobsen Syndrome	Failure to thrive, Trigonocephaly, Micrognathia, Missing ribs, Microcephaly, Short neck, Brachyda...	OMIM:147791
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Thoracic hypoplasia, Overlapping toe, Open mouth, Exaggerated cupid's bow, Single t...	ORPHA:254528
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Unilateral renal agenesis, Scoliosis, Small for gestational age, Short...	ORPHA:464311
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Joint swelling, Anemia of inadequat...	OMIM:609628
Trisomy 18	Microretrognathia, Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Abnorma...	ORPHA:3380
Schinzel-Giedion Syndrome	Abnormality of the ureter, Overlapping toe, Micrognathia, Overlapping fingers, Radioulnar synosto...	ORPHA:798
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Small hand, Macrocephaly at birth, Narrow mouth, Urinary bladder wall hypertrophy, Short neck, Hi...	ORPHA:280633
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon...	ORPHA:3035
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Upper lip pit, Renal agenesis, Preaxial hand polydactyly, Tooth age...	ORPHA:1297
Phocomelia, Schinzel Type	Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ...	ORPHA:2879
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Osteogenesis Imperfecta, Type Viii	Thin ribs, Dentinogenesis imperfecta, Platyspondyly, Kyphosis, Slender long bone, Radial bowing, ...	OMIM:610915
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas...	ORPHA:175
Traboulsi Syndrome	Homocystinuria, Bifid uvula, Dental malocclusion, Broad hallux, Retrognathia, Short finger, Malar...	OMIM:601552
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Micrognathia, Bilateral single transverse palmar creases, Talip...	ORPHA:3310
Cockayne Syndrome	Carious teeth, Delayed eruption of primary teeth, Cachexia, Urinary incontinence, Nephrotic syndr...	ORPHA:191
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Structural foot deformity, Arachnodactyly, Hypospadias, Polydactyly, Primary micr...	ORPHA:464306
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Floating-Harbor Syndrome	Broad thumb, Carious teeth, Short neck, Broad fingertip, Dislocated radial head, Hypospadias, Con...	OMIM:136140
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Renal hypoplasia, Cleft lip, Scoliosis, Microphallus, Micrognathia,...	OMIM:618454
Geroderma Osteodysplasticum	Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Femoral bo...	OMIM:231070
Bor Syndrome	Multicystic kidney dysplasia, Retrognathia, Vesicoureteral reflux, Renal insufficiency, Ureterope...	ORPHA:107
Williams Syndrome	Carious teeth, Open bite, Micrognathia, Genu valgum, Radioulnar synostosis, Pes planus, Everted l...	ORPHA:904
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis, Diaphyseal sclerosis, Dental malocclusion, Cranial hyperostosis	OMIM:259730
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F...	OMIM:300009
Trisomy 8P	Clinodactyly of the 2nd finger, Overlapping toe, Short neck, Short 1st metacarpal, Brachydactyly,...	ORPHA:264450
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Tapered toe, Abnormal foot morphology, Elbow flexion contracture, Renal insufficie...	OMIM:608836
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Thrombocytopenia, Increased mean corpuscular volume, Splenomegaly, Clubbing	OMIM:620367
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Cleft upper lip, Preaxial foot polyd...	OMIM:603671
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ...	OMIM:143095
Premature Aging Syndrome, Penttinen Type	Thin ribs, Micrognathia, Flexion contracture of finger, Short foot, Hypoplasia of the maxilla, Ti...	OMIM:601812
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the dentition, Toe syndactyly, Carious teeth, Finger syndactyly, Hypoplasia of the...	ORPHA:3253
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Failure to thrive, G...	ORPHA:2473
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Narrow chest, Micrognathia, Malar flattening, Alveolar ridge overgrowth, Hydronephrosis, Thin upp...	OMIM:235255
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Localized Scleroderma	Abnormality of the dentition, Abnormal facial skeleton morphology, Dental malocclusion, Sclerosis...	ORPHA:90289
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Microcephaly, Abnormal...	ORPHA:86822
Gabriele-De Vries Syndrome	Abnormality of the dentition, Sandal gap, Thick lower lip vermilion, Micrognathia, Ureteropelvic ...	ORPHA:506358
Iniencephaly	Rhizomelia, Absent vertebra, Renal agenesis, Abnormal occipital bone morphology, Narrow mouth, Ta...	ORPHA:63259
Fryns Syndrome	Short distal phalanx of finger, Multicystic kidney dysplasia, Narrow chest, Long philtrum, Microg...	ORPHA:2059
Fucosidosis	Anterior beaking of thoracic vertebrae, Oligosacchariduria, Failure to thrive, Absent/hypoplastic...	OMIM:230000
Barber-Say Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien...	OMIM:209885
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Narrow mouth, Hydronephrosis, Thin up...	OMIM:613735
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Renal hypoplasia/aplasia, Genu ...	ORPHA:2753
Thoraco-Abdominal Enteric Duplication	Missing ribs, Camptodactyly of finger	ORPHA:1759
Kabuki Syndrome 1	Short 5th finger, Congenital hip dislocation, Abnormality of the dentition, Abnormal vertebral mo...	OMIM:147920
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Long philtrum, Trigonocephaly, Gingival overgrowth, Protruding tongue, Hydrone...	OMIM:619179
X-Linked Hypophosphatemia	Renal phosphate wasting, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyperost...	ORPHA:89936
Alg9-Cdg	Micrognathia, Talipes equinovarus, Short neck, Broad ischia, Thin upper lip vermilion, Progressiv...	ORPHA:79328
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Renal hypoplasia, Aminoaciduria, Nephrocalcinos...	OMIM:617913
Mccune-Albright Syndrome	Renal phosphate wasting, Abnormal facial skeleton morphology, Dental malocclusion, Abnormal femur...	ORPHA:562
Camurati-Engelmann Disease	Carious teeth, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Pes planus, Metap...	ORPHA:1328
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrod...	ORPHA:85165
Chylomicron Retention Disease	Steatorrhea, Hypocholesterolemia, Acanthocytosis	ORPHA:71
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Micro Syndrome	Kyphosis, Micrognathia, Hydronephrosis, Short philtrum, Microcephaly, High palate, Abnormal local...	ORPHA:2510
Coffin-Siris Syndrome 1	Aplasia/Hypoplasia of the patella, High palate, Dislocated radial head, Ectopic kidney, Short dis...	OMIM:135900
Aneurysm-Osteoarthritis Syndrome	Bifid uvula, Pectus carinatum, Dental malocclusion, Retrognathia, Camptodactyly of finger, Malar ...	ORPHA:284984
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Hydroureter, Obesity, Polydactyly, Hydronephrosis, Postaxial hand pol...	OMIM:615989
Czech Dysplasia	Platyspondyly, Short toe, Intervertebral space narrowing, Flat capital femoral epiphysis, Irregul...	OMIM:609162
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Bulbous tips of toes, Broad skull, 2-3 toe syndactyly, Hydron...	ORPHA:163979
Okamoto Syndrome	Exaggerated median tongue furrow, Downturned corners of mouth, Open bite, Unilateral renal hypopl...	ORPHA:2729
Eec Syndrome	Hypospadias, Toe syndactyly, Carious teeth, Finger syndactyly, Ectrodactyly, Tooth agenesis, Abno...	ORPHA:1896
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Castleman Disease	Hematuria, Ureteral obstruction, Weight loss, Renal insufficiency	ORPHA:160
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Micrognathia, Fibular bowing, Barrel-shaped chest, Talipe...	OMIM:612651
Fraser Syndrome	Toe syndactyly, Abnormality of the urinary system, Finger syndactyly, Dental malocclusion, Dental...	ORPHA:2052
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Hypoplasia of the maxilla, Block vertebrae, Renal agenesis, Cleft u...	OMIM:164210
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs...	ORPHA:49041
Fraser Syndrome 1	Renal hypoplasia, Dental malocclusion, Dental crowding, Cleft upper lip, Aplasia/Hypoplasia of th...	OMIM:219000
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypocalciuria, Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, Hypophosphatur...	ORPHA:73223
Sotos Syndrome	Abnormal vertebral morphology, Hip contracture, Talipes equinovarus, Pes planus, Large hands, Abn...	ORPHA:821
Holoprosencephaly 9	Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners ...	OMIM:610829
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Broad foot, Aplasia/Hyp...	ORPHA:2502
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Carious teeth, Ureterocele, Absence of Stensen duct, Duplicated collecting system...	OMIM:604292
Aicardi Syndrome	Block vertebrae, Cleft upper lip, Butterfly vertebrae, Prominence of the premaxilla, Missing ribs...	OMIM:304050
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Narrow chest, Micrognathia, Alveolar ridge overgrowth, Hydronephrosis, Abnormal renal morphology,...	ORPHA:1655
Neural Tube Defects, Susceptibility To	Asymmetry of spinal facet joints, Absence of the sacrum, Urinary incontinence, Spina bifida occul...	OMIM:182940
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Open mouth, Hand muscle atrophy, Arachnodactyly, Pes planus, Everted lower lip ver...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Open mouth, Hand muscle atrophy, Arachnodactyly, Pes planus, Everted lower lip ver...	ORPHA:363958
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ...	OMIM:618022
Noonan Syndrome 1	High, narrow palate, Dental malocclusion, Radial deviation of finger, Clinodactyly, Abnormal ster...	OMIM:163950
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret...	OMIM:191800
1P36 Deletion Syndrome	Narrow mouth, Abnormality of the kidney, Foot polydactyly, Short foot, Hypospadias, Obesity, Brac...	ORPHA:1606
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Generalized aminoaciduria, Rachit...	ORPHA:289157
Fryns Syndrome	Thin ribs, Joint contracture of the hand, Short neck, Hypospadias, Prominent fingertip pads, Rena...	OMIM:229850
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Narrow chest, Knee flexion contracture, Hydronephrosis, Short long bon...	OMIM:620454
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Renal hypoplasia, 11 pairs of ribs, Micrognathia, Thick vermilion border, Scaphocepha...	OMIM:620005
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the dentition, Macroglossia, Recurrent urinary tract infections, Thick lower lip v...	ORPHA:847
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc...	OMIM:619774
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Retrognathia, Failure to thrive, Brachyturricephaly, Contrac...	ORPHA:83617
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u...	ORPHA:2973
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Pes planus, Short hallux, Ge...	OMIM:616268
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Rhizomelia, Narrow chest, Kyphosis, Lumbar hyperlordosis, Femoral bowing, Tibial b...	OMIM:616482
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis, Spina bifida occulta	OMIM:618060
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Macrocephaly, Long philtrum, Abnormal tibia morphology, Long foo...	ORPHA:363700
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Syndactyly, Absent ...	ORPHA:2363
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Stromme Syndrome	Bilateral renal hypoplasia, Preaxial polydactyly, Micrognathia, Hydronephrosis, Microcephaly, Wid...	OMIM:243605
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Carious teeth, Ureterocele, Absence of Stensen duct, Duplicated collecting system...	OMIM:129900
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Irregular dentition, Prominence of ...	OMIM:602535
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormality of the sphenoid sinus, Bowing of the long bones, Abnormal ...	ORPHA:249
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Failure to thrive, Oligodontia, Hydronep...	ORPHA:2315
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Renal hypoplasia, Pectus carinatum, Abnormal clavicle morphology,...	ORPHA:3138
Joubert Syndrome 35	Renal fibrosis, Pectus carinatum, Multicystic kidney dysplasia, Recurrent urinary tract infection...	OMIM:618161
Orofaciodigital Syndrome X	Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b...	OMIM:165590
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft pal...	ORPHA:1827
Oeis Complex	Congenital hip dislocation, Duplicated collecting system, Absence of the sacrum, Hydroureter, Ren...	OMIM:258040
Ventriculomegaly With Defects Of The Radius And Kidney	Absent thumb, Renal agenesis, Horseshoe kidney, Bowed forearm bones, Absent radius, Ureteral dupl...	OMIM:602200
Wolfram Syndrome 1	Hydronephrosis, Neurogenic bladder, Hydroureter, Limited mobility of proximal interphalangeal joint	OMIM:222300
Granulomatosis With Polyangiitis	Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis, A...	ORPHA:900
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia, Single transverse palmar crease	OMIM:218550
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Kyphoscoliosis, Bowed humerus...	OMIM:616507
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Hydronephrosis, Talipes equinova...	OMIM:236680
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Clitoral hypertrophy, Hypocholesterolemia, Micrognathia, Hypoplastic ...	OMIM:244450
Williams-Beuren Syndrome	Open mouth, Radioulnar synostosis, Failure to thrive in infancy, Obesity, Renal insufficiency, Ab...	OMIM:194050
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Cardiomegaly, Poikilocytosis, El...	OMIM:618278
Peters Plus Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Renal hypoplasia/aplasia, Short neck,...	ORPHA:709
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Pectus carinatum, Broad thumb, Clinodactyly, Failure to thrive, Recurrent urinary tract infection...	OMIM:612541
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Elbow dislocation, Amelia, Renal hypoplasia/aplasia, Abnormal metac...	ORPHA:2538
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Failure to thrive, Abnormality of the ureter, Epispadias, Brachydactyl...	ORPHA:3339
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Microcephaly, Hydronephrosis, Drumstick terminal phalanges	ORPHA:541423
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Osteopetrosis With Renal Tubular Acidosis	Prominent floating ribs, Tooth malposition, Abnormality of the dentition, Plagiocephaly, Retrogna...	ORPHA:2785
Cat Eye Syndrome	Renal agenesis, Horseshoe kidney, Micrognathia, Vesicoureteral reflux, Hydronephrosis, Absent rad...	OMIM:115470
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Joubert Syndrome 21	Hyperechogenic kidneys, Bell-shaped thorax, Chronic sinusitis, Short ribs, Renal cyst	OMIM:615636
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, 11 pairs of ribs, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Macro...	OMIM:620025
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tooth malposition, Small hand, Overlapping toe, Pes planus, Patellar subluxation, Thoracolumbar s...	ORPHA:480880
Dubowitz Syndrome	Aplastic anemia, Hypocholesterolemia, Micrognathia, Cryptorchidism, Pes planus, Clinodactyly of t...	OMIM:223370
Tibial Hemimelia	Absent tibia	OMIM:275220
Loeys-Dietz Syndrome 3	Intervertebral disk degeneration, Arachnodactyly, Talipes equinovarus, Knee osteoarthritis, Pes p...	OMIM:613795
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Lower limb asymmetry, Delayed eruption of teeth, Rickets of the lower li...	ORPHA:289176
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, Thrombocytopenia, Hypertri...	ORPHA:31150
Genitopatellar Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Delayed eruption of teeth, Inferior pub...	OMIM:606170
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Nijmegen Breakage Syndrome	Sandal gap, Cleft upper lip, Recurrent urinary tract infections, Malar prominence, Micrognathia, ...	OMIM:251260
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, B...	ORPHA:500095
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Kaposiform Lymphangiomatosis	Fractures of the long bones, Abnormal scapula morphology, Abnormal form of the vertebral bodies, ...	ORPHA:464329
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, 11 pairs of ribs, Hemivertebrae, Hypoplasia of penis, Hypospadias	ORPHA:77298
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,...	ORPHA:97214
Chromosome 1P36 Deletion Syndrome, Distal	High palate, Short foot, Ectopic kidney, Hypospadias, Short 5th finger, Obesity, Submucous cleft ...	OMIM:607872
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Micrognathia	OMIM:607598
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Hydroureter, Abnormality of the vertebral column, E...	ORPHA:2273
Opitz Gbbb Syndrome	Abnormality of the urinary system, Natal tooth, Cleft lip, Long philtrum, Ankyloglossia, Microgna...	ORPHA:2745
Charge Syndrome	Bifid femur, Hypoplasia of the zygomatic bone, Cleft upper lip, Abnormal soft palate morphology, ...	ORPHA:138
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Failure to thrive, Hydronephrosis, Pectus excavatum, High palate, Cleft palate	ORPHA:488613
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Bifid uvula, Posterior plagiocephaly, Sandal gap, Long philtrum, Frontal bossin...	OMIM:620330
Caffey Disease	Calvarial hyperostosis, Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the...	OMIM:114000
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Renal hypoplasia, Absence of the sacrum, Ureteral stenosis	OMIM:270100
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Erdheim-Chester Disease	Abnormal epiphysis morphology, Renal insufficiency, Abnormal metaphysis morphology, Hydronephrosi...	ORPHA:35687
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Charge Syndrome	Micrognathia, Absent radius, Bilateral talipes equinovarus, Hand monodactyly, Renal agenesis, Cle...	OMIM:214800
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Bifid uvula, Renal hypoplasia, Absence of the sacrum, Vesicoureteral reflux, Butterfly vertebrae,...	OMIM:617660
White-Kernohan Syndrome	Hydroureter, Retrognathia, Horseshoe kidney, Obesity, Tented upper lip vermilion, Hydronephrosis,...	OMIM:619426
Acrofacial Dysostosis, Cincinnati Type	Median pseudocleft lip, Micrognathia, Decreased body weight, High palate, Hypoplasia of the maxil...	OMIM:616462
Cutis Laxa, Autosomal Recessive, Type Ic	Multiple bladder diverticula, Sandal gap, Long philtrum, Retrognathia, Micrognathia, Malar flatte...	OMIM:613177
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Open mouth, Ureteropelvic junction obstruction, Exaggerated cupid's bow, S...	OMIM:300896
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Multicystic kidney dysplasia, Secondary microcephaly, Long hallux, Genu valgum...	ORPHA:261537
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix	OMIM:245650
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Hypoplasia of teeth, Paranasal sinus hypoplasia, Micropenis, High...	OMIM:603457
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Pallister-Killian Syndrome	Small hand, Postaxial foot polydactyly, Secondary microcephaly, Micrognathia, Broad foot, Short n...	OMIM:601803
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Failure to thrive, Secondary microcephaly, Hydronephrosis, Primary microcephaly, Duplicated colle...	OMIM:617093
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Long philtrum, Narrow mouth, Arachnodactyly, Talipes equinovarus, Hydronephros...	OMIM:601776
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion	ORPHA:83601
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Plagiocephaly, Downturned corners of mouth, Long philt...	ORPHA:444077
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis...	OMIM:608800
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Finger syndactyly, Talipes equi...	ORPHA:110
Digeorge Syndrome	High, narrow palate, Unilateral renal agenesis, Bifid uvula, Obesity, Micrognathia, Renal insuffi...	OMIM:188400
Mowat-Wilson Syndrome	Tooth malposition, Multicystic kidney dysplasia, Genu valgum, Open mouth, Decreased body weight, ...	ORPHA:2152
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Hydronephrosis, Postaxial ha...	OMIM:236700
Viss Syndrome	Micrognathia, Genu valgum, Cleft soft palate, Contracture of the proximal interphalangeal joint o...	OMIM:619472
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Multicystic kidney dysplasia, Secondary microcephaly, Long hallux, Genu valgum...	ORPHA:261552
Moderate Hemophilia A	Hematuria, Cartilage destruction, Gingival bleeding, Hip contracture	ORPHA:169805
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Smooth philtrum, Increased size of the mandible	OMIM:300048
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Clinodactyly, Abnormality of the ureter, Micrognathia, B...	OMIM:249000
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina...	ORPHA:3467
Sirenomelia	Absence of the sacrum, Abnormality of the urinary system, Aplasia/Hypoplasia of the radius, Siren...	ORPHA:3169
Tay-Sachs Disease	Precocious puberty, Increased serum beta-hexosaminidase, Laryngeal dystonia, Limited elbow extens...	ORPHA:845
Holoprosencephaly 3	Bifid uvula, Cleft lip, Proboscis, Malar flattening, Hydronephrosis, Solitary median maxillary ce...	OMIM:142945
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Carious teeth, Hydroureter, Urinary retention, Renal...	ORPHA:90324
Vacterl With Hydrocephalus	Absence of the sacrum, Renal agenesis, Retrognathia, Abnormal form of the vertebral bodies, Micro...	ORPHA:3412
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Barrel-shaped chest, Biconcave vertebral bodies, Tibial bowing, Kyphoscoliosis, Mi...	OMIM:259770
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Igg4-Related Aortitis	Hydronephrosis, Weight loss, Low back pain	ORPHA:449400
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Currarino Syndrome	Lower limb asymmetry, Aplasia/Hypoplasia of the sacrum, Vesicoureteral reflux, Hypoplasia of peni...	ORPHA:1552
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Oral mucosa...	ORPHA:79403
Limb Body Wall Complex	Progressive congenital scoliosis, Cleft lip, Broad hallux, Thoracic hypoplasia, Abnormality of th...	ORPHA:2369
Thakker-Donnai Syndrome	Downturned corners of mouth, Narrow mouth, Hydronephrosis, Cervical C2/C3 vertebral fusion, Short...	ORPHA:1780
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Micrognathia, Hydronephrosis, Cleft palate, Pierre-Robin sequence	OMIM:614921
Microphthalmia, Syndromic 9	Renal hypoplasia, Horseshoe kidney, Micrognathia, Hydronephrosis, Pelvic kidney, Renal malrotation	OMIM:601186
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Hypoplastic sacrum, Micrognathia, Shor...	OMIM:614083
Glycine Encephalopathy With Normal Serum Glycine	Genu recurvatum, Hand clenching, Elbow flexion contracture, Overlapping toe, Hip contracture, Tal...	OMIM:617301
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Hip dysplasia	ORPHA:30
Knobloch Syndrome 1	Bifid ureter, Renal duplication, Hydronephrosis, Microcephaly, Duplicated collecting system, Spin...	OMIM:267750
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde...	ORPHA:158684
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Cleft lip, Dilatation of the renal pelvis, Hydroureter, Retrognathia, Micrognathia, Dilatation of...	OMIM:265380
Dextrocardia	Congenital hip dislocation, Abnormal foot morphology, Abnormality of the ureter, Abnormal renal m...	ORPHA:1666
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Macrocephaly, Abnormal cartilage morphology	ORPHA:2396
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Absent Achilles reflex, Pes cavus, Exaggerated startle response, Ankle clonus	OMIM:609541
Hardikar Syndrome	Hypoplasia of the bladder, Hydroureter, Unilateral cleft lip, Failure to thrive, Recurrent urinar...	OMIM:301068
Spastic Tetraplegia And Axial Hypotonia, Progressive	Overlapping toe, Exaggerated startle response, Ankle clonus	OMIM:618598
Multiple Mitochondrial Dysfunctions Syndrome 7	Hyperglycinemia, Ankle clonus, Thrombocytopenia, Exaggerated startle response, Dystonia, Hypernat...	OMIM:620423
Peutz-Jeghers Syndrome	Bladder polyp, Abnormality of the ureter, Labial melanotic macule, Oral melanotic macule, Clubbin...	OMIM:175200
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Cryptorchidism, Tremor, Exaggerated startle response	OMIM:620327
Xanthinuria, Type I	Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria	OMIM:278300
Adult-Onset Still Disease	Proteinuria, Weight loss, Cartilage destruction	ORPHA:829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Calf muscle hypertrophy, Exaggerated startle response, Elevated circulating creatine kinase conce...	OMIM:253800
Alkaptonuria	Aminoaciduria, Elevated urinary homogentisic acid, Calcification of cartilage, Dark urine, Thicke...	ORPHA:56
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Stiff-Person Syndrome	Anemia, Opisthotonus, Exaggerated startle response	OMIM:184850
Plaa-Associated Neurodevelopmental Disorder	Postaxial foot polydactyly, Micrognathia, Long fingers, Postaxial hand polydactyly, Edema of the ...	ORPHA:521426
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Asparagine Synthetase Deficiency	Hypoasparaginemia, Long foot, Micrognathia, Tremor, Large hands, Exaggerated startle response	OMIM:615574
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Hyperalaninemia, Exaggerated startle response, Lacticaciduria	OMIM:620451
Johanson-Blizzard Syndrome	Small for gestational age, Downturned corners of mouth, Long philtrum, Failure to thrive, Agenesi...	OMIM:243800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Deep philtrum, Hip dysplasi...	ORPHA:438213
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Clinodactyly of the 5th finger, Tremor, Exaggerated startle response	OMIM:618056
Hyperekplexia 1	Hip dislocation, Exaggerated startle response	OMIM:149400
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Dilatation of the renal pelvis, Failure to thrive, Knee dislocation, Hyperechogenic ...	OMIM:619534
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Pes cavus, Exaggerated startle response, Hyporeflexia of lower limbs	ORPHA:320406
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Pelvic kidney	OMIM:613001
Sandhoff Disease	Urinary incontinence, Hepatosplenomegaly, Increased urinary N-acetylglucosamine-rich oligosacchar...	OMIM:268800
Congenital Alveolar Capillary Dysplasia	Hydronephrosis, Abnormal vertebral morphology	ORPHA:210122
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic...	ORPHA:2237
Currarino Syndrome	Absence of the sacrum, Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflu...	OMIM:176450
Reactive Arthritis	Recurrent aphthous stomatitis, Weight loss, Cartilage destruction, Recurrent urinary tract infect...	ORPHA:29207
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Persistent cloac...	OMIM:615709
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Micrognathia, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers, Exaggerated startl...	OMIM:617527
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Liver Disease, Severe Congenital	Aminoaciduria, Plagiocephaly, Failure to thrive, Recurrent urinary tract infections, Hyperechogen...	OMIM:619991
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Hydroureter, Megacystis	OMIM:619431
Peutz-Jeghers Syndrome	Abnormality of the ureter, Abnormal pigmentation of the oral mucosa, Multiple renal cysts, Renal ...	ORPHA:2869
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, 11 pairs of ribs, Micropenis, Multicystic kidney dysplasia	OMIM:615287
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ...	ORPHA:322
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Visceral Myopathy 1	Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis	OMIM:155310
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Ileal Neuroendocrine Tumor	Hydronephrosis, Weight loss	ORPHA:100078
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Bladder Exstrophy	Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ...	ORPHA:93930
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Congenital Tracheal Stenosis	Abnormality of the ureter, Abnormality of the kidney	ORPHA:141127

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Knee joint - MPATH pathological entity term osteopenia	Dym^em1(IMPC)Tcp	HOM		Early adult
Knee joint - MPATH pathological process term developmental dysplasia	Dym^em1(IMPC)Tcp	HOM		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dym.

No publications found that use IMPC mice or data for Dym.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dym^em1(IMPC)Tcp	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Dym MGI:1918480

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

X-ray

X-ray

X-ray

Histopathology

X-ray

Gross Pathology and Tissue Collection

Human diseases caused by Dym mutations

Histopathology

IMPC related publications

External links

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data