Gene Summary

Name:
sorting nexin 3
Synonyms:
SDP3

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
pallor Snx3tm1.1(KOMP)Vlcg HOM E18.5 0.00
exencephaly Snx3tm1.1(KOMP)Vlcg HOM E18.5 0.00
abnormal tail morphology Snx3tm1.1(KOMP)Vlcg HOM E18.5 0.00
increased blood urea nitrogen level Snx3tm1.1(KOMP)Vlcg HET Late adult 1.14×10-05
microphthalmia Snx3tm1.1(KOMP)Vlcg HOM E12.5 0.00
spina bifida Snx3tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal neural tube closure Snx3tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal craniofacial morphology Snx3tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal embryo size Snx3tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal head shape Snx3tm1.1(KOMP)Vlcg HOM E18.5 0.00
preweaning lethality, complete penetrance Snx3tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal limb morphology Snx3tm1.1(KOMP)Vlcg HOM E18.5 0.00
anophthalmia Snx3tm1.1(KOMP)Vlcg HOM E12.5 0.00
anophthalmia Snx3tm1.1(KOMP)Vlcg HOM E18.5 0.00
exencephaly Snx3tm1.1(KOMP)Vlcg HOM E15.5 0.00
cleft palate Snx3tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal head shape Snx3tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal tail morphology Snx3tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal facial morphology Snx3tm1.1(KOMP)Vlcg HOM E18.5 0.00
edema Snx3tm1.1(KOMP)Vlcg HOM E15.5 0.00
syndactyly Snx3tm1.1(KOMP)Vlcg HOM E18.5 0.00
abnormal forebrain morphology Snx3tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal embryo size Snx3tm1.1(KOMP)Vlcg HOM E18.5 0.00
abnormal midbrain morphology Snx3tm1.1(KOMP)Vlcg HOM E12.5 0.00
syndactyly Snx3tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal craniofacial morphology Snx3tm1.1(KOMP)Vlcg HOM E15.5 0.00
abnormal hindbrain morphology Snx3tm1.1(KOMP)Vlcg HOM E12.5 0.00
abnormal limb morphology Snx3tm1.1(KOMP)Vlcg HOM E15.5 0.00
anophthalmia Snx3tm1.1(KOMP)Vlcg HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote Ambiguous
Ear N/A heterozygote 100% (1 of 1)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 100% (1 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 100% (1 of 1)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote 100% (1 of 1)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (3 of 443)
aorta 0.0%
bone 0.0%
brain 1.13% (5 of 443)
brainstem 0.46% (2 of 437)
brown adipose tissue 0.0%
cartilage tissue 0.23% (1 of 436)
cerebellum 0.7% (3 of 430)
cerebral cortex 0.22% (1 of 451)
epididymis 13.68% (16 of 117)
esophagus 1.63% (5 of 307)
eye 0.0%
heart 0.0%
hippocampus 0.46% (2 of 436)
hypothalamus 0.23% (1 of 436)
kidney 4.98% (22 of 442)
large intestine 4.92% (21 of 427)
liver 0.0%
lower urinary tract 0.0%
lung 0.45% (2 of 443)
lymph node 0.23% (1 of 426)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.22% (1 of 446)
ovary 0.0%
oviduct 0.0%
pancreas 0.92% (4 of 437)
peripheral nervous system 0.23% (1 of 444)
peyers patch 0.0%
pituitary gland 0.24% (1 of 416)
prostate gland 1.85% (8 of 433)
skeletal muscle 0.0%
skin 0.0%
small intestine 4.73% (21 of 444)
spinal cord 0.66% (3 of 453)
spleen 0.46% (2 of 434)
stomach 3.87% (17 of 439)
striatum 0.46% (2 of 438)
submandibular gland 0.96% (1 of 104)
testis 1.12% (5 of 446)
thalamus 0.0%
thymus 0.23% (1 of 440)
thyroid gland 2.51% (11 of 438)
trachea 0.46% (2 of 433)
urinary bladder 0.0%
uterus 0.44% (2 of 459)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

MicroCT E14.5-E15.5

Embryo reconstruction

7 Images

Electrocardiogram (ECG)

Waveform Image

19 Images

Gross Morphology Embryo E18.5

Images

14 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

Images Ophthalmoscopy

12 Images

Adult LacZ

LacZ Images Section

46 Images

Gross Morphology Embryo E14.5-E15.5

Images

23 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

16 Images

Sleep Wake

Wake state (bmp file)

1 Images

MicroCT E18.5

Embryo reconstruction

5 Images

Gross Morphology Embryo E12.5

Images

14 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Snx3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Snx3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Azotemia, Familial
Azotemia OMIM:109160
Meckel Syndrome, Type 8
Cleft upper lip, Talipes equinovarus, Cleft palate, Anophthalmia, Polydactyly, Postaxial hand pol... OMIM:613885
Acalvaria
Hydrocephalus, Calvarial skull defect, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the... ORPHA:945
Anencephaly 2
Median cleft palate, Anophthalmia, Anencephaly, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Oral cleft, Bilateral microphthalmos, Microphthalmia OMIM:611638
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Cleft palate, Edema, Rocker bottom foot, Intrauterine growth... OMIM:616570
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Acropectorovertebral Dysplasia
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... ORPHA:957
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Cleft palate, Hand oligodactyly... OMIM:206920
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Occipital encephalocele, Anence... OMIM:614175
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Anophthalmia, Microphthalmia, Da... OMIM:164180
Hydrolethalus
Hydrocephalus, Cleft palate, Gingival cleft, Anencephaly, Bifid uvula, Arrhinencephaly, Anophthal... ORPHA:2189
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia OMIM:233270
Meckel Syndrome, Type 4
Intrauterine growth retardation, Hydrocephalus, Microphthalmia, Cleft palate, Anencephaly, Agenes... OMIM:611134
Aplasia Cutis Congenita
Calvarial skull defect, Spinal dysraphism, Skin ulcer, Finger syndactyly, Toe syndactyly ORPHA:1114
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Triangular mouth, Spindle-shaped finger, Cutaneous syndactyly, F... ORPHA:166024
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Intrau... ORPHA:1327
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:615771
Anophthalmia Plus Syndrome
Cleft palate, Anophthalmia, Deviation of finger, Bilateral cleft lip and palate, Non-midline clef... ORPHA:1104
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Joint contracture of the hand, Small thenar eminence, Dermatoglyphic ridges ... OMIM:211960
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Fountain Syndrome
Short distal phalanx of finger, Wide mouth, Gingival overgrowth, Metaphyseal dysplasia, Facial ed... ORPHA:3219
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Hydrolethalus Syndrome 2
Hydrocephalus, Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly,... OMIM:614120
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius, Non-midline cleft lip,... ORPHA:2476
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Frontal Encephalocele
Hydrocephalus, Calvarial skull defect, Dolichocephaly, Encephalocele, Spina bifida ORPHA:1931
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia OMIM:248110
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Thin vermilion border, Abnormal brainstem morpholo... ORPHA:1532
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Joubert Syndrome 10
Postaxial polydactyly, Frontal bossing, Cerebellar vermis hypoplasia, Deep philtrum, Thick vermil... OMIM:300804
Trisomy 13
Ectrodactyly, Calvarial skull defect, High, narrow palate, Cleft palate, Abnormality of the denti... ORPHA:3378
Trisomy 1Q
Anal atresia, Narrow mouth, Hydrocephalus, Cleft palate, Arachnodactyly, Camptodactyly of finger,... ORPHA:261344
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Cleft palate, Craniosynostosis, Aplasia/Hypoplas... ORPHA:2117
Pelvis-Shoulder Dysplasia
Dislocated radial head, Hydrocephalus, Talipes equinovarus, Cleft palate, Aplasia/Hypoplasia of t... ORPHA:2839
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Dolichocephaly, Cutaneous syndactyly of toes, Met... OMIM:612961
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Hydrocephalus, Narrow palate, Cleft palate, Craniosyno... OMIM:605627
Joubert Syndrome 22
Intrauterine growth retardation, 2-3 toe syndactyly, Agenesis of cerebellar vermis, Postaxial han... OMIM:615665
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Cleft palate, Short philtrum, Camptodactyly of finger... ORPHA:1617
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Hydrocephalus, Ectrodactyly, Split foot, Thin calvarium, Tracheoes... ORPHA:2437
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
20Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Adducted thumb, Short philtrum, Brachydactyly, Finger clinodacty... ORPHA:444051
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly ORPHA:64754
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Cleft palate, Microphthalmia OMIM:221950
Pierpont Syndrome
Short toe, Long upper lip, Prominent fingertip pads, Everted lower lip vermilion, Thin vermilion ... ORPHA:487825
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Craniotelencephalic Dysplasia
Hydrocephalus, Craniosynostosis, Arrhinencephaly, Cerebellar hypoplasia, Frontal bossing, Septo-o... ORPHA:1528
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Schisis Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Micromelia, Unilateral cleft ... ORPHA:63862
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Anophthalmia, Postaxial ha... ORPHA:66625
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Abnormal calvaria morphology, Median cleft palate, Microphthalmia ORPHA:2432
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... ORPHA:1106
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Pierpont Syndrome
Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin verm... OMIM:602342
Neu-Laxova Syndrome 2
High palate, Cleft palate, Cerebellar hypoplasia, Polyhydramnios, Edema, Rocker bottom foot, Spin... OMIM:616038
Meckel Syndrome, Type 2
Microphthalmia, Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand po... OMIM:603194
Crossed Polysyndactyly
Postaxial hand polydactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Finger ... ORPHA:2935
Mmep Syndrome
Split foot, Oral cleft, Triphalangeal thumb, Median cleft lip, Microphthalmia ORPHA:3434
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Achondroplasia
Bowing of the legs, Hydrocephalus, Trident hand, Flared metaphysis, Brachydactyly, Short femoral ... OMIM:100800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Hydrocephalus, Short philtrum, Cerebellar hypoplasia, Metaphyseal cupping of metacarp... ORPHA:163966
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Oral cleft, Microphthalmia, Cerebellar malformation, Occipital encephalocele ORPHA:324416
Joubert Syndrome 36
Mesoaxial hand polydactyly, Molar tooth sign on MRI, Open mouth OMIM:618763
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Everted lower lip vermilion, Short philtrum, Hypoplasia of the pons, An... ORPHA:411986
Craniotelencephalic Dysplasia
Craniosynostosis, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Microphthalmia,... OMIM:218670
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... OMIM:136760
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly ORPHA:294975
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Hypoplasia of the pons, Ethmoidal encephalocele, Abnormal midbrain morpho... ORPHA:280195
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Microphthalmia, Cleft palate, Postaxial polydactyly, Squared iliac bones, Preaxial ... OMIM:616300
Aminopterin/Methotrexate Embryofetopathy
Intrauterine growth retardation, Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Apl... ORPHA:1908
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Calvarial skull defect, Encephalocele, Coronal craniosynostosis, Abnormality of th... ORPHA:228390
Lissencephaly 8
Hypoplasia of the brainstem, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia, Occipita... OMIM:617255
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... OMIM:615297
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Microphthalmia With Brain And Digit Anomalies
High palate, Anophthalmia, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Mic... ORPHA:139471
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Brachycephaly, Microphthalmia ORPHA:2528
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Radioulnar synostosis, Abnormality ... ORPHA:3268
Aminopterin Syndrome Sine Aminopterin
High palate, Joint contracture of the hand, Cleft palate, Arachnodactyly, Oligodontia, Brachydact... OMIM:600325
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Polydactyly, Dandy-Walker malformation OMIM:614465
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Split foot, Premature skin wrinkling, Oral cleft, Microphthalmia, ... OMIM:601349
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Mosaic Trisomy 9
High palate, Intrauterine growth retardation, Talipes equinovarus, Cleft palate, Dandy-Walker mal... ORPHA:99776
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyl... OMIM:611561
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Microphthalmia, Elbow dislo... ORPHA:2538
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Isolated Dandy-Walker Malformation
Cleft palate, Prominent occiput, Frontal bossing, Encephalocele, Platybasia, Dandy-Walker malform... ORPHA:217
Trisomy 18
Cleft palate, Anencephaly, Abnormality of the upper limb, Microphthalmia, Intrauterine growth ret... ORPHA:3380
Cousin Syndrome
Hydrocephalus, Cleft palate, Rhizomelia, Microphthalmia, Absent proximal finger flexion creases, ... OMIM:260660
Joubert Syndrome 2
High palate, Elongated superior cerebellar peduncle, Hydrocephalus, Encephalocele, Dolichocephaly... OMIM:608091
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand ... ORPHA:380
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... OMIM:183600
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Optic n... OMIM:607597
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Intrauterine growth retardation, Aqueductal stenosis, Hypoplasia of ... ORPHA:3412
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus, Anophthalmia... OMIM:147250
Walker-Warburg Syndrome
Hydrocephalus, Cleft palate, Abnormal cerebellar vermis morphology, Anophthalmia, Bifid uvula, Ce... ORPHA:899
Iniencephaly
Myelomeningocele, Anal atresia, Narrow mouth, Duodenal atresia, Hydrocephalus, Talipes equinovaru... ORPHA:63259
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Sho... OMIM:274000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar ... OMIM:615181
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Hallermann-Streiff Syndrome
High palate, Thin calvarium, Microphthalmia, Scaphocephaly, Selective tooth agenesis, Parietal bo... OMIM:234100
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal... OMIM:300863
Joubert Syndrome 7
Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Encephalocele, Molar tooth sign o... OMIM:611560
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Br... OMIM:236500
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft upper lip, Talipes equinovarus, Cleft palate, Holoprosencephaly, Dolichocephal... OMIM:612530
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Frontal bossing, Rhizomelia, Abnormal epiphysis morp... ORPHA:93267
Monosomy 18P
Tooth malposition, Cleft palate, Hypodontia, Holoprosencephaly, Short philtrum, Brachydactyly, Ca... ORPHA:1598
Carpenter Syndrome
Preaxial foot polydactyly, Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Clo... ORPHA:65759
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Dolichocephaly, Brachydactyly, Genu varum, Microphthal... ORPHA:1777
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Joint contracture of the hand, Craniosynostosis, Dolichocephaly, Camptodactyly of ... OMIM:175700
Al-Gazali-Bakalinova Syndrome
Frontal bossing, Genu valgum, Lymphedema, Clinodactyly, Molar tooth sign on MRI OMIM:607131
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Cleft palate, Abnormal shoulder morphology, Spina bifida ORPHA:2345
Trisomy 20P
Ectopic anus, Spina bifida, Plagiocephaly, Finger syndactyly, Everted lower lip vermilion, Dolich... ORPHA:261318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Microphthalmia OMIM:614830
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... OMIM:185900
Moebius Syndrome
High palate, Talipes equinovarus, Abnormality of the dentition, Brachydactyly, Bifid uvula, Short... OMIM:157900
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Pfeiffer Syndrome Type 1
High palate, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Broad hallux phalanx, Short ha... ORPHA:93258
Humero-Radial Synostosis
Aplasia/Hypoplasia affecting the eye, Elbow ankylosis, Abnormality of the wrist, Meningocele, Tar... ORPHA:3265
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Short philtrum, Cutaneous syndactyly, Anencephaly, Delayed er... OMIM:619148
Joubert Syndrome 37
High palate, Postaxial polydactyly, Frontal bossing, Cerebellar vermis hypoplasia, Microphthalmia... OMIM:619185
Gordon Syndrome
High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Finger syndac... ORPHA:376
Neu-Laxova Syndrome 1
Cleft palate, Micromelia, Small placenta, Rocker bottom foot, Microphthalmia, Generalized edema, ... OMIM:256520
Retinitis Pigmentosa 42
Pallor OMIM:612943
Orofaciodigital Syndrome Xv
Broad hallux, Molar tooth sign on MRI, Lobulated tongue, Postaxial polydactyly OMIM:617127
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Nail-Patella Syndrome
Cleft upper lip, Microphakia, Clinodactyly of the 5th finger, Talipes equinovarus, Disproportiona... OMIM:161200
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Cere... OMIM:613153
Oculofaciocardiodental Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... ORPHA:2712
Mosaic Trisomy 1
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Single transverse palmar cr... ORPHA:1692
Neu-Laxova Syndrome
Cleft palate, Everted lower lip vermilion, Lack of skin elasticity, Abnormal cerebellar vermis mo... ORPHA:2671
Focal Dermal Hypoplasia
Abnormality of the dentition, Hypoplastic pelvis, Abnormal epiphysis morphology, Umbilical hernia... ORPHA:2092
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Abnormal femoral neck/head morphology, Slender finger, Cleft palate, Anterior plagio... ORPHA:163649
Joubert Syndrome With Renal Defect
Hydrocephalus, Biparietal narrowing, Cleft palate, Oral cleft, Cerebellar vermis hypoplasia, Hand... ORPHA:220497
Retinitis Pigmentosa 60
Pallor OMIM:613983
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Hydrops fetalis, Anence... OMIM:616546
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Preaxial polyda... OMIM:603671
17Q12 Microduplication Syndrome
Cleft palate, Tracheoesophageal fistula, Polyhydramnios, Microphthalmia, Finger syndactyly, Toe s... ORPHA:261272
Cofs Syndrome
Everted lower lip vermilion, Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Micro... ORPHA:1466
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of the cere... ORPHA:1926
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Chiari malformation, Syringomyelia, Spina bifida, Cervical myelo... OMIM:207950
Cranioectodermal Dysplasia
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... ORPHA:1515
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Abnormal cerebellum morphology, Macroglossia, Optic nerve hypoplasia, Occipital en... ORPHA:370959
Alkuraya-Kucinskas Syndrome
High palate, Overlapping toe, Plagiocephaly, Hydrocephalus, Talipes equinovarus, Adducted thumb, ... OMIM:617822
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Basal Cell Nevus Syndrome
Cleft upper lip, Hydrocephalus, Short distal phalanx of the thumb, Parietal bossing, Cleft palate... OMIM:109400
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Hypoplasia of the pons, Spina bifida occulta, Flat occiput, Bicoronal syn... OMIM:618736
Primary Lateral Sclerosis, Juvenile
Pallor, Difficulty in tongue movements, Abnormal upper motor neuron morphology OMIM:606353
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus, Microphthalmia ORPHA:141333
Retinitis Pigmentosa 81
Pallor OMIM:617871
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Abnormal morphology of the radius, Polyhydramnios, Microphthalmia ORPHA:3469
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Syndactyly, Polydactyly, Microphthalmia, Smooth philtrum OMIM:602501
Joubert Syndrome 32
Frontal bossing, Abnormal cerebellum morphology, Molar tooth sign on MRI, Postaxial polydactyly OMIM:617757
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Cleft soft palate ORPHA:99742
Duplication Of The Pituitary Gland
Wide mouth, Abnormality of the tongue, Supernumerary tooth, Cleft palate, Brachyturricephaly, Pol... ORPHA:314621
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Preaxial hand polydactyly, Anencep... ORPHA:564
Curry-Jones Syndrome
Craniosynostosis, Intestinal malrotation, Syndactyly, Duplication of thumb phalanx, Cutaneous syn... OMIM:601707
Holoprosencephaly
Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Median cleft lip and palate, Solitary median... ORPHA:2162
Bresek Syndrome
Plagiocephaly, Hydrocephalus, Cleft palate, Optic nerve hypoplasia, Postaxial hand polydactyly, M... ORPHA:85284
Joubert Syndrome With Ocular Defect
Hydrocephalus, Biparietal narrowing, Cleft palate, Oral cleft, Cerebellar vermis hypoplasia, Hand... ORPHA:220493
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Pfeiffer Syndrome
High palate, Hydrocephalus, Elbow ankylosis, Coronal craniosynostosis, Brachyturricephaly, Short ... OMIM:101600
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Promi... ORPHA:2725
Optic Atrophy 9
Pallor OMIM:616289
Triploidy
Aplasia/Hypoplasia affecting the eye, Wide mouth, Narrow mouth, Hydrocephalus, Cleft palate, Macr... ORPHA:3376
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Talipes equinovarus, High, narrow palate, Dolichocephaly, Camptodactyly of finger,... ORPHA:1101
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Plagiocephaly, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar ... OMIM:605282
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Clinodactyly, Microphthalmia OMIM:610023
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Clinodactyly of the 5th finger, Cutis laxa, Craniosynostosis, Deep palmar crease, Lo... OMIM:619451
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Plagiocephaly, Macroglossia, Dysgenesis of the cerebellar... OMIM:213300
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Bilateral single transverse palmar creases, Short thumb, Abnormal... ORPHA:1120
Muenke Syndrome
High palate, Dental malocclusion, Plagiocephaly, Cone-shaped epiphyses of the phalanges of the ha... OMIM:602849
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Cleft palate, Craniosynostosis, Oligohydramnios, Micromelia, Brachydactyly, Split ... ORPHA:2145
Orofaciodigital Syndrome Type 6
High palate, Cleft palate, Preaxial polydactyly, Finger clinodactyly, Brachydactyly, Lobulated to... ORPHA:2754
Blepharocheilodontic Syndrome 1
Cleft upper lip, Anal atresia, Hypodontia, Cutaneous syndactyly, Neural tube defect, Conical toot... OMIM:119580
Slc35A2-Cdg
Intrauterine growth retardation, Talipes equinovarus, Craniosynostosis, Abnormality of the hand, ... ORPHA:356961
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Cerebellar atrophy, Microphthalmia OMIM:616171
Faciothoracogenital Syndrome
Thin upper lip vermilion, Long philtrum, Smooth philtrum, Microphthalmia OMIM:227320
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Joubert Syndrome 18
Intrauterine growth retardation, Molar tooth sign on MRI, Polydactyly, Camptodactyly OMIM:614815
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Brachydactyly, Abnormal meta... ORPHA:1406
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Brachycephaly, Occipital... OMIM:614416
Joubert Syndrome 14
Hydrocephalus, Microphthalmia, Postaxial polydactyly, Short philtrum, Tented upper lip vermilion,... OMIM:614424
Retinitis Pigmentosa 27
Pallor, Macular edema OMIM:613750
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Peripheral Cone Dystrophy
Pallor OMIM:609021
Joubert Syndrome 40
Optic nerve hypoplasia, Molar tooth sign on MRI, Postaxial polydactyly OMIM:619582
Holoprosencephaly 9
Cleft upper lip, Dental malocclusion, Hydrocephalus, Cleft palate, Holoprosencephaly, Optic nerve... OMIM:610829
Caudal Duplication
Myelomeningocele, Spina bifida, Intestinal duplication, Spinal cord lesion ORPHA:1756
Focal Dermal Hypoplasia
Hydrocephalus, Hiatus hernia, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth... OMIM:305600
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Excessive skin wrinkling on dorsum of hands and fingers, Bilateral microphthalmos OMIM:608763
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Cleft palate, Craniosynostosis, Abnormali... OMIM:251230
3P25.3 Microdeletion Syndrome
Overlapping toe, High, narrow palate, Cleft palate, Postaxial polydactyly, Short philtrum, 2-3 fi... ORPHA:435638
Campomelic Dysplasia
High palate, Hydrocephalus, Cleft palate, Femoral bowing, Short 1st metacarpal, Carious teeth, Bo... OMIM:114290
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Summitt Syndrome
Syndactyly, Oxycephaly, Craniosynostosis OMIM:272350
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Po... ORPHA:2547
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Myopathic Ehlers-Danlos Syndrome
Talipes equinovarus, High, narrow palate, Joint contracture of the hand, Adducted thumb, Pallor, ... ORPHA:536516
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pallor, Hydrops fetalis, Polyhydramnios, Oligohydramnios ORPHA:163596
Pfeiffer Syndrome Type 2
High palate, Anal atresia, Hydrocephalus, Aqueductal stenosis, Cleft palate, Intestinal malrotati... ORPHA:93259
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Tracheoesophageal fistula, Anophthalmia, Microphthalmia, Esopha... ORPHA:77298
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Microphthalmia OMIM:120433
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Dysgenesis of the cerebellar vermis, R... ORPHA:397715
Craniofrontonasal Dysplasia
High palate, Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, Abnormality of the ... ORPHA:1520
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Hand polydactyly, Encephalocele, Foot polydactyly, B... ORPHA:2318
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Syndactyly, Microdontia, Camptodactyly, Widely spaced teeth, Split... OMIM:225280
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Marden-Walker Syndrome
High palate, Narrow mouth, Talipes equinovarus, High, narrow palate, Cleft palate, Joint contract... OMIM:248700
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, 2-5 finger cutaneous syndactyly, Small hand, Prominent occiput, Bilatera... OMIM:619339
Enlarged Parietal Foramina
Myelomeningocele, Short clavicles, Cleft palate, Parietal foramina, Craniosynostosis, Cleft lip, ... ORPHA:60015
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Camptodactyly of toe, Campto... OMIM:300244
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia, Microphthalmia ORPHA:291
Meckel Syndrome, Type 1
Wide mouth, Hydrocephalus, Cleft palate, Anencephaly, Lobulated tongue, Bowing of the long bones,... OMIM:249000
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Cleft palate, Microphthalmia, Midface retrusion ORPHA:1135
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... OMIM:614091
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Intestinal malrotation, Syndactyly, Carious teet... OMIM:613684
Warburg Micro Syndrome 1
Overlapping toe, Narrow mouth, Thin vermilion border, Cerebellar hypoplasia, Cerebellar vermis hy... OMIM:600118
Joubert Syndrome 30
Superior cerebellar dysplasia, Postaxial hand polydactyly, Cerebellar atrophy, Molar tooth sign o... OMIM:617622
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Bilateral microphthalmos OMIM:600122
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Dolichocephaly, C... ORPHA:2633
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Fanconi Anemia, Complementation Group I
Absent thumb, Hypoplasia of the radius, Optic nerve hypoplasia, Short 1st metacarpal, Pallor, Chi... OMIM:609053
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Thin vermilion border, Dehydration, Long philtrum, Delayed eruptio... OMIM:214150
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Brachydactyly, Aplasia/Hypoplasia of the cerebellum, Frontal bossing, Abnormal met... ORPHA:93262
Pontocerebellar Hypoplasia, Type 3
High palate, High, narrow palate, Long philtrum, Hypoplasia of the pons, Cerebellar hypoplasia, D... OMIM:608027
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Long philtrum, Dilated fourth ventricle, Cerebellar hypoplasia, Dry skin,... OMIM:619306
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Plagiocephaly, Macroglossia, Abnormality of the hand, Syndactyly, Campto... ORPHA:369891
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Encephalocele, Broad hallux phalanx, Long philtrum, Flat occiput, Broad thumb,... ORPHA:2211
Adams-Oliver Syndrome
Short distal phalanx of finger, Absent hand, Hydrocephalus, Calvarial skull defect, Absent toe, B... ORPHA:974
Mohr Syndrome
High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Partial duplication o... OMIM:252100
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... OMIM:614701
Ring Chromosome 10 Syndrome
Thin vermilion border, Long philtrum, Tapered finger, Frontal bossing, Sandal gap, Microphthalmia... ORPHA:1438
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Cleft palate, Postaxial polydactyly, Intestinal malrotation, Broad distal pha... ORPHA:404440
Fanconi Anemia
High palate, Abnormality of femur morphology, Hydrocephalus, Cleft palate, Tracheoesophageal fist... ORPHA:84
Frontonasal Dysplasia 2
Calvarial skull defect, Anterior plagiocephaly, Parietal foramina, Craniosynostosis, Oligohydramn... OMIM:613451
Potocki-Shaffer Syndrome
Brachycephaly, 2-5 finger cutaneous syndactyly, Parietal foramina, Short philtrum, Brachydactyly,... OMIM:601224
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Optic Atrophy 1
Pallor OMIM:165500
6P22 Microdeletion Syndrome
Hydrocephalus, Redundant skin, Clinodactyly, Abnormal palate morphology, Finger syndactyly ORPHA:251046
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Braddock-Carey Syndrome 2
Wide mouth, Cleft palate, Clinodactyly, Microphthalmia, Pierre-Robin sequence OMIM:619981
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Broad long bones, Macrodontia of permanent maxillary central i... OMIM:257850
Waardenburg Syndrome Type 1
Cleft upper lip, Cleft palate, Tented upper lip vermilion, Meningocele, Spina bifida, Aganglionic... ORPHA:894
Joubert Syndrome 20
Syndactyly, Molar tooth sign on MRI, Postaxial polydactyly OMIM:614970
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
White Forelock With Malformations
Clinodactyly of the 5th finger, Dolichocephaly, Spina bifida occulta, Deep philtrum, Abnormal pal... ORPHA:2475
Cerebrocostomandibular Syndrome
Myelomeningocele, Clinodactyly of the 5th finger, Cleft palate, Glossoptosis, Short hard palate, ... ORPHA:1393
Filippi Syndrome
Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, Finger clinodactyly, Mic... OMIM:272440
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Tripha... OMIM:604757
14Q22Q23 Microdeletion Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Anophthalmia, Bilateral single transverse palm... ORPHA:264200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Hydrocephalus, Craniosynostosis, Thin vermilion border, Long philtrum, Radioulnar ... ORPHA:171839
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Microphthalmia, Syndromic 6
High palate, Flexion contracture of thumb, Cleft palate, Single transverse palmar crease, Microph... OMIM:607932
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Apert Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Cutaneous syndactyly, Brachyturricephaly, Delayed ... OMIM:101200
Stevenson-Carey Syndrome
Narrow mouth, Joint contracture of the hand, Cerebellar hypoplasia, Camptodactyly, Downturned cor... OMIM:611961
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Split hand, Cutaneous finger s... OMIM:183802
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Congenital Toxoplasmosis
Hydrocephalus, Ascites, Intrauterine growth retardation, Microphthalmia ORPHA:858
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Short distal phalanx of finger, Cleft palate, Arachnodactyly, Abnormality of the de... ORPHA:2994
Curry-Jones Syndrome
Abnormality of thumb phalanx, Craniosynostosis, Intestinal malrotation, Preaxial hand polydactyly... ORPHA:1553
Clark-Baraitser Syndrome
High palate, Wide mouth, Dolichocephaly, Short philtrum, Long philtrum, Downturned corners of mou... OMIM:617752
Microgastria-Limb Reduction Defects Association
Absent thumb, Hand oligodactyly, Intestinal malrotation, Hypoplasia of the radius, Anophthalmia, ... OMIM:156810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Hydrocephalus, Macroglossia, Cleft palate, Buphthalmos, Partial absence of cereb... OMIM:613150
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Joubert Syndrome 21
Elongated superior cerebellar peduncle, Occipital encephalocele, Anophthalmia, Hypoplasia of the ... OMIM:615636
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Cutis laxa, Thin vermilion border, Long philtrum, Micromelia, Brachydactyly, Syndactyly, Single t... OMIM:614800
Cockayne Syndrome Type 2
Anodontia, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the primar... ORPHA:90322
Cornelia De Lange Syndrome 2
High palate, Brachycephaly, Small hand, Brachydactyly, Limited elbow movement, Downturned corners... OMIM:300590
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Hydrocephalus, Unilambdoid synostosis, Long philtrum, Ulnar deviation of the wrist... OMIM:618577
Heart And Brain Malformation Syndrome
High, narrow palate, Everted lower lip vermilion, Camptodactyly of finger, Prominent occiput, Pol... OMIM:616920
Congenital Heart Defects And Ectodermal Dysplasia
Syndactyly, Premature loss of primary teeth, Microdontia, Dry skin, Widely spaced teeth, Broad thumb OMIM:617364
Roberts Syndrome
High palate, Cleft palate, Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper l... ORPHA:3103
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Pfeiffer Syndrome Type 3
High palate, Anal atresia, Aqueductal stenosis, Cleft palate, Intestinal malrotation, Small hand,... ORPHA:93260
Limb Body Wall Complex
Myelomeningocele, Abnormality of the spinal cord, Hydrocephalus, Cleft palate, Encephalocele, Bil... ORPHA:2369
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Summitt Syndrome
Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Brachyd... ORPHA:3210
Yunis-Varon Syndrome
Hydrocephalus, Slender long bones with narrow diaphyses, Absent thumb, Short philtrum, Tapered fi... ORPHA:3472
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, H... ORPHA:1263
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Nanophthalmos
Microphthalmia ORPHA:35612
Alg3-Cdg
High palate, Metaphyseal chondrodysplasia, Macroglossia, Dandy-Walker malformation, Hypoplasia of... ORPHA:79321
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Frontofacionasal Dysplasia
Microphthalmia, Cleft palate, Non-midline cleft lip, Encephalocele, Brachycephaly, Midface retrusion ORPHA:1791
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Sp... OMIM:169550
Coach Syndrome 1
Wide mouth, Aplasia/Hypoplasia of the cerebellar vermis, Postaxial hand polydactyly, Cerebellar v... OMIM:216360
Sandestig-Stefanova Syndrome
High palate, Intrauterine growth retardation, Microphthalmia, Bilateral single transverse palmar ... OMIM:618804
2Q32Q33 Microdeletion Syndrome
High palate, Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Toe clinodactyly,... ORPHA:251019
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Median cleft lip OMIM:300484
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... OMIM:300166
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Short distal phalanx of fi... ORPHA:1914
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Anal stenosis, Anteriorly placed anus, Microphthalmia OMIM:248450
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Adams-Oliver Syndrome 2
Cerebellar hypoplasia, Single transverse palmar crease, Microphthalmia, Oligohydramnios, Retrocer... OMIM:614219
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, 3-4 finger cutaneou... ORPHA:370010
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Adducted thumb, Short philtrum, Flared metaphysis, Camptodactyly of finge... OMIM:610758
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Cleft palate, Craniosynostosis, Abnormality of the dentition, Camptoda... ORPHA:251038
Cartilage-Hair Hypoplasia
Micromelia, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bones, Abnormal metaphy... ORPHA:175
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Brachydactyly, Slender long bone, Microphthalmia, Ankyloglossia... OMIM:602361
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Seckel Syndrome 2
Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microdontia, Microphthalmia, Microglossia OMIM:606744
Monosomy 5P
High palate, Intrauterine growth retardation, Small hand, Finger syndactyly ORPHA:281
Joubert Syndrome 17
Syndactyly, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Polydactyly OMIM:614615