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Gene: Agap1 MGI:2653690

Gene Summary

Name:

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

Synonyms:

Centg2, Ggap1

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
increased circulating potassium level	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.10×10^-05
abnormal snout morphology	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.54×10^-06
abnormal skin coloration	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.23×10^-05
cataract	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.26×10^-06
abnormal iris morphology	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.47×10^-06
abnormal tooth morphology	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.12×10^-05
absent pinna reflex	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.69×10^-08
preweaning lethality, incomplete penetrance	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal cranium morphology	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.41×10^-05
corneal opacity	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.84×10^-09
abnormal cornea morphology	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.56×10^-06
fused cornea and lens	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.15×10^-09
abnormal lens morphology	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.26×10^-06
persistence of hyaloid vascular system	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.87×10^-15
increased circulating alkaline phosphatase level	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.41×10^-07
abnormal auditory brainstem response	Agap1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.69×10^-10

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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.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

18 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

Images Ophthalmoscopy

12 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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DSS Histology

Images

8 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Agap1^{tm1a(EUCOMM)Wtsi}
WT, Female, WTSI

View all 124 images

Agap1^{tm1a(EUCOMM)Wtsi}
persistence of hyaloid vascular system, HOM, Male, WTSI

Agap1^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Agap1^{tm1a(EUCOMM)Wtsi}
cataracts, HOM, Male, WTSI

Agap1^{tm1a(EUCOMM)Wtsi}
cataracts, HOM, Female, WTSI

Agap1^{tm1a(EUCOMM)Wtsi}
Fused cornea and lens, HOM, Female, WTSI

View all 30 images

Agap1^{tm1a(EUCOMM)Wtsi}
asymmetric snout, abnormal snout morphology, HOM, Female, WTSI

Agap1^{tm1a(EUCOMM)Wtsi}
malocclusion, HOM, Female, WTSI

Agap1^{tm1a(EUCOMM)Wtsi}
abnormal snout morphology, short snout, HOM, Female, WTSI

Agap1^{tm1a(EUCOMM)Wtsi}
abnormal snout morphology, asymmetric snout, HOM, Female, WTSI

Agap1^{tm1a(EUCOMM)Wtsi}
upturned snout, short snout, abnormal snout morphology, HOM, Female, WTSI

View all 7 images

Human diseases caused by Agap1 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 Agap1 (0 diseases)
Human diseases predicted to be associated with Agap1 (857 diseases)

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

The table below shows human diseases predicted to be associated to Agap1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Hearing impairment, Abnormality of skin pigmentation	OMIM:300719
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Generalized hyperpigmentation, Optic atrophy	ORPHA:2253
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Abnormal antihelix morphology, Hearing impairment, Chorioretinal coloboma	OMIM:274205
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity	ORPHA:1490
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic atrophy, Hearing impairment, Tremor, Optic disc pallor	OMIM:165300
Galactosialidosis	Hearing impairment, Corneal opacity	ORPHA:351
Mucous Membrane Pemphigoid	Gingivitis, Oral mucosal blisters, Corneal opacity	ORPHA:46486
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Optic atrophy, Chorioretinal coloboma, Sensorineural hearing impairment, Bilateral clef...	ORPHA:1473
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Spastic Paraparesis And Deafness	Cataract, Hearing impairment, Tremor	OMIM:312910
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Stickler Syndrome Type 2	Cataract, Sensorineural hearing impairment, Retinal detachment, Corneal opacity, Cleft palate	ORPHA:90654
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Median cleft palate, Corneal opacity	ORPHA:2432
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Nathalie Syndrome	Cataract, Sensorineural hearing impairment	ORPHA:2663
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration	ORPHA:254704
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract, Malar flattening, Cleft palate	OMIM:300261
X-Linked Retinoschisis	Cataract	ORPHA:792
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Retinal detachment, Corneal opacit...	OMIM:610202
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Iris cyst, Sensorineural hearing impairment	OMIM:620086
Winchester Syndrome	Gingival overgrowth, Corneal opacity	OMIM:277950
Otodental Syndrome	Carious teeth, Periodontitis, Lens coloboma, Iris coloboma, Cataract, Microcornea, Abnormality of...	ORPHA:2791
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract, High palate, Micrognathia	OMIM:614882
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Yemenite Deaf-Blind Hypopigmentation Syndrome	Iris coloboma, Microcornea, Chorioretinal coloboma, Numerous pigmented freckles, Severe sensorine...	OMIM:601706
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus, Decreased HDL cholesterol concentration	OMIM:618463
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Narrow mouth, Corneal opacity, Thin vermilion border, Short nose	ORPHA:2370
Morquio Syndrome C	Corneal opacity	OMIM:252300
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology, Low-set, posteriorly rotated ears, Abnormal oral frenulum ...	ORPHA:1617
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract, Sensorineural hearing impairment	OMIM:613076
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Trichomegaly	Cataract	OMIM:190330
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Hearing impairment, Cleft upper lip, Chorioretinal coloboma, Iris coloboma, Cleft palate	OMIM:120433
Gómez-López-Hernández Syndrome	Low-set ears, Thin vermilion border, Corneal opacity	ORPHA:1532
Spastic Paraparesis-Deafness Syndrome	Cataract, Sensorineural hearing impairment	ORPHA:2815
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy	OMIM:121820
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hearing impairment, Hand tremor	ORPHA:401830
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Dystonia, Opacification of the corneal stroma	OMIM:252650
Harel-Yoon Syndrome	Optic atrophy, Micrognathia, Developmental cataract, Corneal opacity, Dystonia, Mandibular progna...	OMIM:617183
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment	OMIM:217400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Optic atrophy, Mandibular prognathia, Myopic astigmatism, Long philtrum, T...	OMIM:152950
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Alpha-Mannosidosis	Cataract, Abnormal helix morphology, Craniofacial hyperostosis, Dental malocclusion, Hearing impa...	ORPHA:61
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration	OMIM:609115
Kahrizi Syndrome	Wide nasal bridge, Cataract, Iris coloboma, Thick vermilion border	OMIM:612713
Erythrokeratodermia Variabilis	Cataract, Irregular hyperpigmentation, Hearing impairment, Protruding ear, Corneal opacity, Hyper...	ORPHA:317
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col...	OMIM:610256
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy	OMIM:217800
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Fish-Eye Disease	Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Short Syndrome	Wide nasal bridge, Abnormality of the dentition, Abnormal mandible morphology, Hypoplasia of the ...	ORPHA:3163
Nathalie Syndrome	Cataract, Hearing impairment	OMIM:255990
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Retrognathia, Narrow mouth, High palate	ORPHA:2528
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Dental malocclusion, Widely spaced teeth, Malar flattening, Attached earlobe, Bone spic...	OMIM:616108
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Long philtrum, Astigmatism, Thin upper lip vermilion, Optic ...	OMIM:617523
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Wide nasal bridge, Keratitis, Long philtrum, Recurrent otitis media, Micrognathia, Wide mouth, Ol...	OMIM:602562
Mucolipidosis Type Iii	Craniofacial hyperostosis, Cleft palate, Corneal opacity	ORPHA:577
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Hypoplasia of the antihelix, Hearing impairment, Chorioretinal coloboma, Abnormal antih...	ORPHA:2489
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Chorioretinal atrophy, Retinal...	OMIM:143200
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Abnormal pupil morphology, Hearing impairment, Elevated circ...	ORPHA:101082
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	EEG abnormality, Developmental cataract, Corneal opacity	OMIM:618815
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu...	ORPHA:231736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Elevated circulating creatine kinase concentration, Coloboma, Retinal detachment, Corne...	OMIM:613153
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Norrie Disease	Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Sensorineur...	OMIM:310600
Rutherfurd Syndrome	Opacification of the corneal stroma, Failure of eruption of permanent teeth, Corneal dystrophy, D...	OMIM:180900
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract, Abnormality of the dentition	ORPHA:2278
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C...	ORPHA:293603
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cataract, Abnormal auditory evoked potentials, Irregular dentition, Sensorineural hearing impairm...	OMIM:619260
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormally prominent line of Schwalbe, Abnormal auditory evoked potent...	OMIM:109120
Bartsocas-Papas Syndrome 2	Axillary pterygium, Low-set ears, Popliteal pterygium, Micrognathia, Bilateral cleft palate, Bila...	OMIM:619339
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Optic atrophy, Micrognathia, Corneal opacity, Mandibular prognathia, Short nose, Optic ...	ORPHA:496790
Stickler Syndrome, Type V	Cataract, Retinal detachment, Pierre-Robin sequence, Sensorineural hearing impairment	OMIM:614284
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n...	OMIM:610532
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Sialidosis Type 1	Wide nasal bridge, Cataract, Thick lower lip vermilion, Decreased nerve conduction velocity, Trem...	ORPHA:812
Coats Disease	Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, High, narrow palate, Microcornea, Hypopigmented skin patches, Delayed erup...	ORPHA:3214
Neovascular Glaucoma	Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio...	ORPHA:94058
Hyperlipoproteinemia, Type Ii, And Deafness	Hearing impairment, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglycer...	OMIM:144300
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract, Thick lower lip vermilion, Micrognathia, Short philtrum, Widely-spaced maxillary centra...	OMIM:608227
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai...	OMIM:617519
Cofs Syndrome	Wide nasal bridge, Cataract, Optic atrophy, Micrognathia, Abnormality of retinal pigmentation, Se...	ORPHA:1466
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina	OMIM:613801
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Abnormality of skin pigmentati...	OMIM:251270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Optic atrophy, Micrognathia, Macular atrophy, Optic disc pallor	OMIM:616171
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis...	OMIM:221900
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Cataract, Band keratopathy, Hyperamylasemia	OMIM:604278
Morm Syndrome	Cataract, Retinal atrophy	ORPHA:75858
Sjogren-Larsson Syndrome	Macular degeneration, Astigmatism, Enamel hypoplasia, Opacification of the corneal epithelium, Re...	OMIM:270200
Cockayne Syndrome Type 1	Cataract, Optic atrophy, Abnormality of the dentition, Pigmentary retinopathy, Hearing impairment...	ORPHA:90321
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Abnormality of the dentition, Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buph...	OMIM:251750
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Microphthalmia/Coloboma 9	Low-set ears, Microcornea, Long philtrum, Macular coloboma, Retinal detachment, Ocular anterior s...	OMIM:615145
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Increased phy...	OMIM:614307
Ophthalmomandibulomelic Dysplasia	Temporomandibular joint ankylosis, Obtuse angle of mandible, Corneal opacity, Megalocornea	ORPHA:2741
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Abnormality of the dentition, Hearing impairment, Protruding ear, Keratoco...	ORPHA:1806
Limbal Stem Cell Deficiency	Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s...	ORPHA:171673
Sialidosis Type 2	Hearing impairment, Tremor, Corneal opacity	ORPHA:87876
Oculomaxillofacial Dysostosis	Wide nasal bridge, Abnormality of the dentition, Micrognathia, Median cleft upper lip, Corneal op...	ORPHA:1794
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Microdontia, EEG abnormality, Everted lower lip vermilion, C...	ORPHA:578
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Walker-Warburg Syndrome	Low-set ears, Cataract, Microcornea, Optic atrophy, Bifid uvula, Abnormal circulating creatine ki...	ORPHA:899
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Hyperthreoninemia, Sensorineural hearing impairmen...	OMIM:204000
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Sensorineural hearing impairment,...	OMIM:166750
Usher Syndrome Type 1	Iris hypopigmentation, Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairm...	ORPHA:231169
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Low-set, posteriorly rotated ears, Cataract, Accessory oral frenulum	ORPHA:1373
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra...	ORPHA:91495
Congenital Rubella Syndrome	Cataract, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Sensorineural hear...	ORPHA:290
Hurler-Scheie Syndrome	Sensorineural hearing impairment, Abnormal nerve conduction velocity, Corneal opacity	ORPHA:93476
Combined Oxidative Phosphorylation Deficiency 13	Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Dystonia, Choreo...	OMIM:614932
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Autosomal Recessive Stickler Syndrome	Cataract, Micrognathia, Malar flattening, Astigmatism, Sensorineural hearing impairment, Retinal ...	ORPHA:250984
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract, Glossoptosis	OMIM:614876
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Hypomelanosis Of Ito	Cataract, Thick lower lip vermilion, Macular hypopigmented whorls, streaks, and patches, Irregula...	OMIM:300337
Xeroderma Pigmentosum, Complementation Group G	Cataract, Tremor	OMIM:278780
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Low-set ears, Cataract, High, narrow palate, Malar flattening, Macrotia	ORPHA:3433
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Retinitis Pigmentosa 9	Cataract, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:180104
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Hereditary Bullous Dystrophy, Macular Type	Spotty hypopigmentation, Cataract, Hyperpigmentation of the skin, Corneal opacity	ORPHA:1867
Stickler Syndrome Type 1	Cataract, Hypoplasia of the maxilla, Long philtrum, Sensorineural hearing impairment, Retinal det...	ORPHA:90653
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism, Sensorineural hearing impairment, Abnormal cochlea ...	ORPHA:231183
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Cataract, Hypoplasia of the maxilla, Hearing impairment, Retrognathia, Microgn...	OMIM:620157
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Sensorineural hearing impairment, Sclerocornea, Hi...	ORPHA:139471
3Q29 Microduplication Syndrome	Wide nasal bridge, Cataract, Low-set ears, Abnormality of the dentition, Hearing impairment, Anir...	ORPHA:251038
Intestinal Dysmotility Syndrome	Low-set ears, Cataract, Broad philtrum, High palate	OMIM:620045
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Cataract, Elevated circulating creatine kinase concentration, Cleft palate, Sensorineural hearing...	OMIM:615350
Nance-Horan Syndrome	Cataract, Microcornea, Abnormality of the dentition, Protruding ear, Retinal detachment, Supernum...	ORPHA:627
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Hearing impairment, Megalocornea, Keratoglobus, Sclerocornea, F...	OMIM:614170
Schimmelpenning-Feuerstein-Mims Syndrome	Hypopigmentation of the skin, Abnormal dental morphology, Hypophosphatemic rickets, Coloboma, Cor...	OMIM:163200
X-Linked Intellectual Disability, Najm Type	Wide nasal bridge, Cataract, Optic atrophy, Chorioretinal coloboma, Long philtrum, Micrognathia, ...	ORPHA:163937
Microphthalmia, Isolated 5	Cataract, Optic disc drusen, Bone spicule pigmentation of the retina, Retinal pigment epithelial ...	OMIM:611040
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Chorioretinal coloboma	OMIM:616428
Distal Deletion 6P	Low-set ears, Abnormality of the dentition, Hearing impairment, Downturned corners of mouth, Hypo...	ORPHA:96125
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Hearing impairment, Cleft mandible, Tented upper lip vermili...	ORPHA:364577
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Sanjad-Sakati Syndrome	Abnormality of the dentition, Hyperphosphatemia, Long philtrum, Low-set, posteriorly rotated ears...	ORPHA:2323
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia, Corneal opacity	OMIM:166300
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:613731
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract, Elevated circulating creatine kinase concentration	OMIM:615352
Alg2-Cdg	Wide nasal bridge, Cataract, Hypsarrhythmia, Iris coloboma	ORPHA:79326
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Optic disc pallor, Micrognathia, EEG abnormality	ORPHA:3173
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Low-set ears, Abnormality of the dentition, Hearing impairment, ...	ORPHA:284160
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Cataract, Ocular albinism, Narrow mouth, Abnormal palate morphology, Choro...	ORPHA:2719
Zellweger Syndrome	Wide nasal bridge, Cataract, Optic atrophy, Micrognathia, Sensorineural hearing impairment, Poste...	ORPHA:912
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Neonatal death	OMIM:273680
Cone-Rod Dystrophy 16	Cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:614500
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Downturned corners of mouth, Aniridia, Micrognathia, Corneal opacity, Developmental glaucoma	ORPHA:1064
Oculoauricular Syndrome	Low-set ears, Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal c...	OMIM:612109
Multiple Sulfatase Deficiency	Cataract, Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigme...	ORPHA:585
Leber Congenital Amaurosis	Cataract, Keratoconus, Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic di...	ORPHA:65
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration	OMIM:614292
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Optic disc pallor, Pigmentary retinopathy	OMIM:204100
Retinitis Pigmentosa 84	Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy	OMIM:618220
Flynn-Aird Syndrome	Cataract, Carious teeth, Progressive sensorineural hearing impairment	OMIM:136300
Lowry-Maclean Syndrome	Low-set ears, High, narrow palate, Hypoplasia of the maxilla, Talon cusp, Downturned corners of m...	ORPHA:2409
Wagro Syndrome	Low-set ears, Cataract, Dental crowding, Aniridia, Micrognathia, Malar flattening, Corneal opacit...	OMIM:612469
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect...	ORPHA:83461
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Neonatal Adrenoleukodystrophy	Wide nasal bridge, Cataract, Optic atrophy, Low-set, posteriorly rotated ears, Abnormality of ret...	ORPHA:44
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Microcornea, Hypoplasia of the maxilla, Hearing impairment, Microdontia, Hypod...	OMIM:601499
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition, Hyperkalemia	ORPHA:757
Prune1-Related Neurological Syndrome	Low-set ears, Cataract, Optic atrophy, Micrognathia, Elevated circulating creatine kinase concent...	ORPHA:544469
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Congenital sensorineural hearing impairment, Micrognathia, Coloboma, Gener...	OMIM:617306
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Wide nasal bridge, Cataract, Optic atrophy, Conical tooth, Dental malocclusion, Ectopia pupillae,...	OMIM:618727
Scheie Syndrome	Abnormal nerve conduction velocity, Sensorineural hearing impairment, Everted lower lip vermilion...	ORPHA:93474
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Optic atrophy, Abnormal circulating cholesterol concentration, Postural tremor, Sensori...	OMIM:270800
Megalocornea-Intellectual Disability Syndrome	Wide nasal bridge, Hypoplasia of the iris, Megalocornea, Micrognathia, Open mouth, Astigmatism, S...	ORPHA:2479
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Malar prominence, Micrognathia, Abnormality of peripheral nerve conduction...	ORPHA:48431
Mietens Syndrome	Wide nasal bridge, Cataract, Microcornea, Corneal opacity, Sclerocornea, Short nose	ORPHA:2557
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Bartsocas-Papas Syndrome	Popliteal pterygium, Micrognathia, Narrow mouth, Median cleft upper lip, Corneal opacity, Cleft p...	ORPHA:1234
Stickler Syndrome, Type Ii	High, narrow palate, Cataract, Bifid uvula, Micrognathia, Malar flattening, Sensorineural hearing...	OMIM:604841
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Elevated circulating creatine...	ORPHA:370959
Baralle-Macken Syndrome	High, narrow palate, Cataract, Dystonia, Cafe-au-lait spot	OMIM:619255
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A...	OMIM:600886
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Absent internal auditory canal, Profound sensorineural hearing impairment, Corneal opacity, Narro...	OMIM:620469
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Hemochromatosis, Type 4	Cataract, Elevated transferrin saturation, Hyperpigmentation of the skin, Increased circulating f...	OMIM:606069
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Oculofaciocardiodental Syndrome	Cataract, Microcornea, Tooth malposition, Ectopia lentis, Hearing impairment, Delayed eruption of...	ORPHA:2712
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Abnormal choroid morphology, Retinal detachment, Macular ...	ORPHA:179
Gyrate Atrophy Of Choroid And Retina	Cataract, Hearing impairment, Hyperornithinemia, Chorioretinal atrophy, Subcapsular cataract, Cho...	ORPHA:414
4H Leukodystrophy	Cataract, Optic atrophy, Abnormality of the dentition, Delayed eruption of teeth, Tremor, Hypodon...	ORPHA:289494
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Abnormality of retinal pigmentation, Oligodontia, Juvenile cataract...	ORPHA:1264
Phenylketonuria	Cataract, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Blue irides, Generalized hypopig...	OMIM:261600
Cataract 47	Cataract, Microcornea	OMIM:612018
Fish-Eye Disease	Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Atelis Syndrome 1	Cataract, Irregular hyperpigmentation, Carious teeth, Long philtrum, Glue ear, High palate, Cafe-...	OMIM:620184
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Corneal opacity	OMIM:618961
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Cataract, Delayed eruption of teeth, Hypocalcemia	ORPHA:2238
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Frontonasal Dysplasia 1	Wide nasal bridge, Cataract, Low-set ears, Hypoplasia of the maxilla, Conductive hearing impairme...	OMIM:136760
Combined Oxidative Phosphorylation Deficiency 31	Cataract, Hyperalaninemia, Micrognathia, Wide mouth	OMIM:617228
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ...	ORPHA:54
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, S...	OMIM:612674
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	OMIM:160565
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Tooth malposition, Low-set, posteriorly rotated ears, Furrowed tongue, Micrognathia, Ab...	ORPHA:1387
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Cataract, Hypoplasia of the maxilla, Cupped ear, Abnormality of cartilage of extern...	ORPHA:2399
Oculocerebrocutaneous Syndrome	Hearing impairment, Hypopigmented skin patches, Wide mouth, Orofacial cleft, Corneal opacity, Iri...	ORPHA:1647
Cadds	Cataract, Micrognathia, Sensorineural hearing impairment, Increased circulating very long-chain f...	ORPHA:369942
Usher Syndrome Type 2	Iris hypopigmentation, Cataract, Carious teeth, Abnormal dental enamel morphology, Sensorineural ...	ORPHA:231178
Alpha-Mannosidosis, Adult Form	Cataract, Macroglossia, Corneal opacity, Mixed hearing impairment, Optic disc pallor	ORPHA:309288
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Juvenile Sialidosis Type 2	Low-set ears, Cataract, Optic atrophy, Hearing impairment, Gingival overgrowth, Protruding tongue...	ORPHA:93399
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Cataract, Abnormal cornea morphology, Iris coloboma	ORPHA:2611
Stromme Syndrome	Wide nasal bridge, Cataract, Microcornea, Low-set ears, Peters anomaly, Micrognathia, Wide mouth,...	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Cataract, Optic atrophy, Optic nerve hypoplasia, Peters anomaly, Atresia of the ext...	OMIM:236670
Vogt-Koyanagi-Harada Disease	Cataract, Hypopigmented skin patches, Vitiligo, Sensorineural hearing impairment, Retinal detachment	ORPHA:3437
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Hearing impairment	ORPHA:67048
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening, Mandibular prognathia	ORPHA:1885
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Neuhauser Syndrome	Wide nasal bridge, Bifid uvula, Cupped ear, Long philtrum, Hypoplasia of the iris, Megalocornea, ...	OMIM:249310
Galactose Mutarotase Deficiency	Cataract, Hypergalactosemia	ORPHA:570422
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Mohr-Tranebjaerg Syndrome	Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ...	ORPHA:52368
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairme...	ORPHA:436174
Branchio-Oculo-Facial Syndrome	Wide nasal bridge, Cataract, Microcornea, Upper lip pit, Conductive hearing impairment, Non-midli...	ORPHA:1297
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen...	ORPHA:49042
Rodrigues Blindness	Sclerocornea, Tooth malposition, Microcornea, Protruding ear	OMIM:268320
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity	ORPHA:2788
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Abnormality of skin pigmentation	OMIM:240200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Elevated circulating creatine kinase concentration, Retinal detachment, Optic nerve hyp...	OMIM:615181
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level	OMIM:610600
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration	OMIM:193230
Severe Oculo-Renal-Cerebellar Syndrome	Cataract, Optic atrophy, Mandibular prognathia, Hypopigmented skin patches, Hypoplasia of the zyg...	ORPHA:2715
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Cataract, Microcornea, Hypoplasia of the maxilla, Macrodontia of permanent maxillar...	OMIM:257850
Scheie Syndrome	Retinal degeneration, Mandibular prognathia, Corneal opacity	OMIM:607016
Congenital Disorder Of Glycosylation, Type Ii	Wide nasal bridge, Cataract, Low-set ears, Sensorineural hearing impairment, Dystonia, Hypsarrhyt...	OMIM:607906
Isolated Aniridia	Cataract, Aniridia, Peters anomaly	ORPHA:250923
Temtamy Syndrome	Low-set ears, Ectopia lentis, Dental crowding, Chorioretinal coloboma, Long philtrum, Micrognathi...	OMIM:218340
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal...	OMIM:212550
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Renpenning Syndrome	High, narrow palate, Cataract, Mandibular prognathia, Macrodontia, Narrow mouth, Malar flattening...	ORPHA:3242
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote...	ORPHA:529799
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyperpigmentation of the skin, Glossitis	OMIM:175500
Wagr Syndrome	Cataract, Micrognathia, Aplasia/Hypoplasia of the iris, Everted lower lip vermilion	ORPHA:893
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Cataract, Decreased motor nerve conduction velocity, Hand tremor, Sensorineural hearing impairmen...	OMIM:162400
Cockayne Syndrome A	Cataract, Optic atrophy, Abnormal auditory evoked potentials, Carious teeth, Dental malocclusion,...	OMIM:216400
Mucopolysaccharidosis Type 4	Abnormality of the dentition, Carious teeth, Hearing impairment, Abnormal dental enamel morpholog...	ORPHA:582
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Dystonia-Deafness Syndrome 1	Cataract, Oculogyric crisis, Cleft upper lip, Generalized dystonia, Leg dystonia, Sensorineural h...	OMIM:607371
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Conductive hearing impairment, Narrow mouth	OMIM:132450
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Cockayne Syndrome B	Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Carious teeth, Dental malocclusi...	OMIM:133540
Congenital Sialidosis Type 2	Low-set ears, Cataract, Optic atrophy, Hearing impairment, Gingival overgrowth, Protruding tongue...	ORPHA:93400
Lissencephaly 8	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Dentici-Novelli Neurodevelopmental Syndrome	Cataract, Hearing impairment, Widely spaced teeth, Thin upper lip vermilion, Hypsarrhythmia, Wide...	OMIM:619877
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Microcornea, Abnormally prominent line of Schwalbe, Hypoplasia of the maxilla,...	OMIM:180500
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Peroxisome Biogenesis Disorder 7A (Zellweger)	Low-set ears, Cataract, Elevated circulating hexacosanoic acid concentration, Long philtrum, Elev...	OMIM:614872
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Congenital Varicella Syndrome	Cataract	ORPHA:291
Laurence-Moon Syndrome	Cataract, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormal antitragu...	ORPHA:2377
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Hearing impairment, Retrognathia, Large earlobe, Astigmatism, Elevated circulating ...	OMIM:301056
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor	OMIM:609153
Peroxisome Biogenesis Disorder 11B	Cataract, Hearing impairment	OMIM:614885
Chromosome 8Q21.11 Deletion Syndrome	Low-set ears, Cataract, Wide nasal bridge, Pigmentary retinopathy, Downturned corners of mouth, M...	OMIM:614230
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, O...	ORPHA:263479
Tyrosinemia Type 2	Malar flattening, Tremor, Corneal opacity	ORPHA:28378
Aniridia 3	Cataract, Aniridia	OMIM:617142
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Corneal perforation, Corneal scarring, Astigmatism, Recu...	ORPHA:137596
Hypoparathyroidism, Familial Isolated, 1	Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Abnormal palate morphology, Aplasia/Hypoplasia of the lens	ORPHA:1381
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Enamel hypoplasia, Downturned corners of mouth	ORPHA:2643
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor, Corneal opacity	OMIM:602400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Cataract, Peters anomaly, Retrognathia, Elevated circulating creatine kinase concen...	OMIM:614643
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular s...	ORPHA:2714
Familial Dysautonomia	Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Orthostatic hypoten...	ORPHA:1764
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, EEG abnormality, Elevated circulating creatine kinase concentration	ORPHA:588
Gelatinous Drop-Like Corneal Dystrophy	Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit...	ORPHA:98957
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Optic atrophy, Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla,...	ORPHA:363417
Incontinentia Pigmenti	Cataract, Irregular hyperpigmentation, Keratitis, Hypopigmented skin patches, Delayed eruption of...	ORPHA:464
Achondrogenesis Type 2	Cataract, Hearing impairment, Retinal detachment, Lens subluxation, Pierre-Robin sequence	ORPHA:93296
Oculopalatocerebral Syndrome	Leukocoria, Cleft palate, Remnants of the hyaloid vascular system	OMIM:257910
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Brittle Cornea Syndrome 1	Keratoconus, Dentinogenesis imperfecta, Abnormal cornea morphology, Hearing impairment, Decreased...	OMIM:229200
Cataract 48	Cataract	OMIM:618415
Axenfeld-Rieger Syndrome, Type 3	Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Malar flat...	OMIM:602482
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level	ORPHA:556037
Cystinosis	Hypokalemia, Hypophosphatemia, Corneal opacity	ORPHA:213
Ophthalmomandibulomelic Dysplasia	Temporomandibular joint ankylosis, Opacification of the corneal stroma, Megalocornea	OMIM:164900
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla...	OMIM:106210
Zimmermann-Laband Syndrome	Cataract, Bifid uvula, Large fleshy ears, Generalized hyperpigmentation, Micrognathia, Wide mouth...	ORPHA:3473
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Carious teeth, Hearing impairment, Widely spaced teeth, Grayish enamel, Co...	OMIM:253010
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Classic Phenylketonuria	Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia, Tremor	ORPHA:79254
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Retinal pigment epithelial mottling, Long philtrum, Tented upper lip vermilion, Dystoni...	OMIM:614105
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Birk-Landau-Perez Syndrome	Optic atrophy, Progressive sensorineural hearing impairment, Increased circulating creatine kinas...	OMIM:617595
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level	ORPHA:556030
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract, Elevated circulating creatine kinase concentration	OMIM:615704
Mosaic Trisomy 8	Hypopigmentation of the skin, Hearing impairment, Hypopigmented skin patches, Micrognathia, Abnor...	ORPHA:96061
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Hypotriglyceridemia, Ectopia pupillae, Abnormality of retinal pigmentation, Retinal atrophy, Colo...	ORPHA:85167
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Optic disc pallor, Neonatal death	OMIM:613730
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Hypophosphatemia,...	ORPHA:534
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia, Astigmatism	ORPHA:97362
Woolly Hair Nevus	Heterochromia iridis, Enlarged vestibular aqueduct, Persistent pupillary membrane, Widely-spaced ...	ORPHA:79414
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Hypopigmentation of the skin, Smooth tongue, Oral mucosal blisters, Generalized ...	ORPHA:79396
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Cataract, Low-set ears, Cleft lip, Microretrognathia, Downturned corners of mo...	OMIM:618571
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Gingival overgrowth, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy, Hearing impairment, Macroglossia, Short nose, Microtia	ORPHA:1914
Pseudohypoparathyroidism Type 1B	Cataract, Hyperphosphatemia, Delayed eruption of teeth, Laryngeal dystonia, Hypocalcemic tetany, ...	ORPHA:94089
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Cleft palate, Brushfield spots, Iris coloboma, Non-midline...	ORPHA:1791
Moebius Syndrome	Hearing impairment, Aplasia/Hypoplasia of the tongue, Tooth agenesis, Micrognathia, Open mouth, M...	ORPHA:570
Usher Syndrome	Cataract, Carious teeth, Abnormal dental enamel morphology, Astigmatism, Abnormality of retinal p...	ORPHA:886
Pseudopseudohypoparathyroidism	Cataract, Enamel hypoplasia, Delayed eruption of teeth	OMIM:612463
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Low-set ears, Microglossia, Exaggerated median tongue furrow, Long philtrum, Cleft mandible, Micr...	OMIM:608670
Proteus-Like Syndrome	Cataract, Mandibular prognathia, Irregular hyperpigmentation, Open bite, Abnormal pupil morpholog...	ORPHA:2969
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Hearing impairment, Short nose	OMIM:302950
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Wide nasal bridge, Cataract, Low-set ears, Abnormality of the dentition, Dental malocclusion, Thi...	ORPHA:85321
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Dyschondrosteosis-Nephritis Syndrome	Microdontia, Corneal opacity	ORPHA:1765
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal...	OMIM:613270
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Leukodystrophy, Hypomyelinating, 24	Cataract, Decreased motor nerve conduction velocity	OMIM:619851
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Low-set ears, Long philtrum, Abnormal antihelix morphology, Reti...	ORPHA:85194
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Micrognathia, Tremor, Hypsarrhythmia, Hypoproteinemia	OMIM:608093
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Neonatal death, Aganglionic megacolon, A...	OMIM:600501
Focal Dermal Hypoplasia	Low-set ears, Abnormality of the dentition, Ectopia lentis, Hearing impairment, Chorioretinal col...	ORPHA:2092
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Harrod Syndrome	Cataract, Dental malocclusion, Hypopigmented skin patches, Narrow mouth, Protruding ear, Long nos...	ORPHA:2115
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy	OMIM:610158
Tangier Disease	Decreased HDL cholesterol concentration, Facial diplegia, Elevated circulating apolipoprotein A-I...	OMIM:205400
Micro Syndrome	Wide nasal bridge, Cataract, Microcornea, Optic atrophy, Macrotia, Low-set, posteriorly rotated e...	ORPHA:2510
Chromosome 6Pter-P24 Deletion Syndrome	Low-set ears, Pigmentary retinopathy, Peters anomaly, Dental crowding, Cleft upper lip, Abnormal ...	OMIM:612582
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Long philtrum, Ectopia pupillae, Coloboma, Sclerocornea	OMIM:615877
Mend Syndrome	Low-set ears, Cataract, Asymmetry of the mouth, Abnormal auditory evoked potentials, Elevated 8(9...	ORPHA:401973
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Marshall Syndrome	Wide nasal bridge, Cataract, Hypoplasia of the maxilla, Abnormality of the dentition, Ectopia len...	ORPHA:560
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Abnormal anterior eye segment morphology, Per...	ORPHA:67042
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Rabin-Pappas Syndrome	Wide nasal bridge, Cataract, Conductive hearing impairment, Retrognathia, Micrognathia, Malar fla...	OMIM:620155
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Wide nasal bridge, Cataract, Low-set ears, Optic atrophy, Hearing impairment, Downturned corners ...	OMIM:220500
Gm1-Gangliosidosis, Type Iii	Dystonia, Opacification of the corneal stroma	OMIM:230650
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Conductive hearing impairment, Astigmati...	ORPHA:2095
Codas Syndrome	Cataract, Crumpled ear, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de...	ORPHA:1458
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312600
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract, Carious teeth, Hypoplasia of the maxilla, Delayed eruption of teeth...	ORPHA:50814
Infantile Refsum Disease	Cataract, Optic atrophy, Hearing impairment, Elevated circulating phytanic acid concentration, Se...	ORPHA:772
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Gm1 Gangliosidosis	Low-set ears, Optic atrophy, Long philtrum, Generalized dystonia, Gingival overgrowth, Narrow mou...	ORPHA:354
Pseudo-Torch Syndrome 1	Low-set ears, Cataract, Cleft lip, Microretrognathia, Long philtrum, Dystonia, High palate, Opaci...	OMIM:251290
Al-Gazali Syndrome	Sclerocornea, Micrognathia, Corneal opacity	OMIM:609465
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion, Optic disc coloboma, Ectopia pupillae, Recurrent otitis media, Macular atrop...	OMIM:608940
Traboulsi Syndrome	Cataract, Bifid uvula, Ectopia lentis, Dental malocclusion, Phakodonesis, Retrognathia, High pala...	OMIM:601552
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Malar flattening, Smooth philtrum, Thin vermilion border, High palate, Opacificatio...	OMIM:601853
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Carious teeth, Keratitis, Enamel hypoplasia, Conjunctivitis	OMIM:612843
Hyperkalemic Periodic Paralysis	Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration	ORPHA:682
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Median cleft upper lip, Iris coloboma, Cleft palate	ORPHA:3374
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Papilledema, Hyperkalemia	OMIM:620366
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Pseudohypoparathyroidism, Type Ic	Cataract, Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Hypocalcemia, Enamel...	OMIM:612462
Schimke Immuno-Osseous Dysplasia	Multiple lentigines, Hyperlipidemia, Microdontia, Hypodontia, Abnormal primary molar morphology, ...	ORPHA:1830
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Abnormal helix morphology, Pigmentary retinopathy, Opacification of the corneal stroma,...	OMIM:214110
Mucopolysaccharidosis Type 1	Optic atrophy, Hearing impairment, Thick lower lip vermilion, Widely spaced teeth, Gingival overg...	ORPHA:579
Oculodentodigital Dysplasia	Cataract, Microcornea, Optic atrophy, Abnormality iris morphology, Hearing impairment, Conductive...	ORPHA:2710
Fucosidosis	Abnormality of the dentition, Hearing impairment, Corneal opacity	ORPHA:349
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Retinal coloboma	OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma	ORPHA:363741
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Hurler Syndrome	Wide nasal bridge, Hearing impairment, Recurrent otitis media, Gingival overgrowth, Thick vermili...	OMIM:607014
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Whistling appearance, Abnormal auditory evoked potentials, Dental crowding, He...	OMIM:193700
Mucolipidosis Type Iii Alpha/Beta	Conductive hearing impairment, Recurrent otitis media, Gingival overgrowth, Sensorineural hearing...	ORPHA:423461
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Cataract, Optic atrophy, Coloboma, Abnormality of skin pigmentation	OMIM:612379
Juvenile Glaucoma	Abnormality iris morphology, Abnormal anterior chamber morphology, Increased cup-to-disc ratio, O...	ORPHA:98977
Cerebrooculofacioskeletal Syndrome 2	Cataract, Micrognathia, Hearing impairment, Developmental cataract	OMIM:610756
Autoimmune Hypoparathyroidism	Cataract, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Conjunctiviti...	ORPHA:36913
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Generalized dystonia, Sensorineural hearing impairment, Orofacial cleft, Macroglossia	ORPHA:79107
Warburg Micro Syndrome 3	Cataract, Microcornea, Optic atrophy, Downturned corners of mouth, Macrotia, Micrognathia, Develo...	OMIM:614222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Elevated circulating creatine kinase concentration, Retinal degeneration, Sensorineural...	OMIM:615249
Trisomy 9P	Dental crowding, Downturned corners of mouth, Impacted tooth, Abnormal pupil morphology, Protrudi...	ORPHA:236
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma	OMIM:169550
Monilethrix	Cataract, Abnormality of the dentition	ORPHA:573
Cutis Laxa, Autosomal Dominant 3	Low-set ears, Protruding ear, Developmental cataract, Corneal opacity	OMIM:616603
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy	OMIM:602082
Rhizomelic Chondrodysplasia Punctata, Type 2	Wide nasal bridge, Cataract, Micrognathia, Submucous cleft hard palate, Zonular cataract, High pa...	OMIM:222765
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Fryns Syndrome	Wide nasal bridge, Long philtrum, Low-set, posteriorly rotated ears, Micrognathia, Tented upper l...	ORPHA:2059
Phacoanaphylactic Uveitis	Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ...	ORPHA:209959
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Proboscis Lateralis	Cataract, Microcornea, Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, C...	ORPHA:141099
Vici Syndrome	Cataract, Optic atrophy, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Senso...	ORPHA:1493
Microphthalmia, Lenz Type	Cataract, Microcornea, Abnormality of the dentition, Hearing impairment, Chorioretinal coloboma, ...	ORPHA:568
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Cataract, Pterygium, Micrognathia, Narrow mouth, Malar flattening, Neonatal de...	OMIM:224410
Galactokinase Deficiency	Cataract, Nuclear cataract, Sensorineural hearing impairment, Hypercholesterolemia, Increased lev...	ORPHA:79237
Hurler Syndrome	Wide nasal bridge, Abnormal nerve conduction velocity, Hearing impairment, Thick vermilion border...	ORPHA:93473
Hurler-Scheie Syndrome	Micrognathia, Thick vermilion border, Corneal opacity	OMIM:607015
Premature Aging Syndrome, Penttinen Type	Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Sensorineural h...	OMIM:601812
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Norrie Disease	Cataract, Abnormal helix morphology, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Macro...	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Facial paralysis, Hypoplasia of the iris, Ectopia pupillae, Peripapillary atrophy, A...	OMIM:175780
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma, Hypopigmented skin patches	ORPHA:3453
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Peroxisome Biogenesis Disorder 9B	Cataract, Elevated circulating phytanic acid concentration, Sensorineural hearing impairment	OMIM:614879
Multiple Sulfatase Deficiency	Retinal degeneration, Hearing impairment, Corneal opacity	OMIM:272200
Short Syndrome	Wide nasal bridge, Cataract, Low-set ears, Dental malocclusion, Downturned corners of mouth, Dela...	OMIM:269880
De Barsy Syndrome	Low-set ears, Cataract, Delayed eruption of teeth, Large earlobe, Narrow mouth, Small, conical te...	ORPHA:2962
Craniolenticulosutural Dysplasia	Wide nasal bridge, Optic atrophy, Posterior Y-sutural cataract, Forehead hyperpigmentation, Cario...	OMIM:607812
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Cataract, Anisocoria, Temporal optic disc pallor	OMIM:619649
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Marshall Syndrome	Low-set ears, Cataract, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long phi...	OMIM:154780
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Cataract	OMIM:618805
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Recurrent cornea...	OMIM:256800
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen...	OMIM:601455
Microphthalmia With Linear Skin Defects Syndrome	Wide nasal bridge, Retinal dysplasia, Hearing impairment, Abnormal earlobe morphology, Hypopigmen...	ORPHA:2556
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Duane Retraction Syndrome	Wide nasal bridge, Blepharospasm, Microcornea, Irregular hyperpigmentation, Hearing impairment, C...	ORPHA:233
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Pigmentary retinopathy, Tremor, Elevated circulating creatine kinase concentration	ORPHA:79095
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cataract, EEG with focal spike waves, Buphthalmos, Elevated circulating creatine kinase concentra...	ORPHA:370997
Generalized Eruptive Keratoacanthoma	Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca	ORPHA:411777
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Hereditary Mucoepithelial Dysplasia	Cataract, Furrowed tongue, Corneal dystrophy, Gingival overgrowth	ORPHA:1839
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Osteopathia Striata-Cranial Sclerosis Syndrome	Wide nasal bridge, Cataract, Low-set ears, High, narrow palate, Conductive hearing impairment, Bi...	ORPHA:2780
Tbck-Related Intellectual Disability Syndrome	Wide nasal bridge, High, narrow palate, EEG with generalized epileptiform discharges, Long philtr...	ORPHA:488632
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op...	ORPHA:1215
Chime Syndrome	Abnormality of the dentition, Hearing impairment, Retinal coloboma, Abnormal dental morphology, T...	ORPHA:3474
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Hypoplasia of the maxilla, Micrognathia, Hearing impairment	OMIM:301108
Pseudohypoparathyroidism, Type Ia	Cataract, Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Enamel hypoplasia	OMIM:103580
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Tractional retinal detachment, Chorioretinal atrophy, Retinal detachm...	OMIM:616468
Neuroleptic Malignant Syndrome	Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Tremor, Hyperuricemia, Elevat...	ORPHA:94093
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma, Hearing impairment	ORPHA:77298
Microphthalmia, Syndromic 5	Cataract, Microcornea, Coloboma, Cleft palate, Optic nerve hypoplasia	OMIM:610125
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Inguinal freckling, Axillary freckling, Hearing impairm...	OMIM:101000
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Delayed eruption of teeth, Peripheral opacification of the cornea, Mic...	OMIM:259600
Warburg Micro Syndrome 2	Cataract, Microcornea, Optic atrophy, Undetectable visual evoked potentials, Asymmetry of the ear...	OMIM:614225
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion, Hearing impairment	OMIM:203780
Galloway-Mowat Syndrome 1	Low-set ears, Cataract, Optic atrophy, Hypopigmentation of the skin, Hypoalbuminemia, Hypoplasia ...	OMIM:251300
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma, Atresia of the external auditory canal	OMIM:601356
3Mc Syndrome 3	Hearing impairment, Cleft upper lip, Auricular pit, Corneal opacity, Abnormal pinna morphology, C...	OMIM:248340
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Acrofrontofacionasal Dysostosis 1	Wide nasal bridge, Optic atrophy, Mandibular prognathia, Cleft upper lip, Malar flattening, Oligo...	OMIM:201180
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairment, Hypoplasia...	ORPHA:920
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, Hearing impairment, Ocular albinism, Generalized hypopigmentatio...	ORPHA:2720
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Cerebrotendinous Xanthomatosis	Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Resting tre...	ORPHA:909
Donnai-Barrow Syndrome	Low-set ears, Cataract, Hearing impairment, Hypoplasia of the iris, Malar flattening, Sensorineur...	OMIM:222448
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Hypopigmented skin patches, Decreased nerve conduction velocity, Short-segmen...	OMIM:609136
Peroxisome Biogenesis Disorder 10B	Low-set ears, Cataract, Posteriorly rotated ears	OMIM:617370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Optic atrophy, Megalocornea, Micrognathia, Malar flattening, Hypoplasia of the retina, ...	OMIM:253280
Atelis Syndrome 2	Low-set ears, Downturned corners of mouth, Diastema, Thick lower lip vermilion, Micrognathia, Pro...	OMIM:620185
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Optic atrophy, Micrognathia, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, High ...	OMIM:617913
Acute Adrenal Insufficiency	Vitiligo, Hyperuricemia, Hyponatremia, Hyperpigmentation of the skin, Orthostatic hypotension, Hy...	ORPHA:95409
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Bone spicule pigme...	OMIM:268315
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Cataract, Microcornea, Iris coloboma, Micrognathia, Narrow mouth, Orofacial cleft,...	ORPHA:3301
1Q41Q42 Microdeletion Syndrome	Cleft palate, Abnormality iris morphology, Submucous cleft hard palate, Thick vermilion border	ORPHA:250999
Triploidy	Cataract, Low-set, posteriorly rotated ears, Micrognathia, Narrow mouth, Wide mouth, Macroglossia...	ORPHA:3376
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Head titubation, Absent brainstem auditory responses, Increased circulating ferritin concentratio...	ORPHA:3240
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Retinal degeneration, Opacification of the corneal stroma, M...	OMIM:252600
3Q29 Microdeletion Syndrome	Low-set ears, Cataract, Abnormality of the dentition, Dental crowding, Macrotia, Short philtrum, ...	ORPHA:65286
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level	ORPHA:427
Dahlberg-Borer-Newcomer Syndrome	Wide nasal bridge, Cataract, Hypocalcemia	ORPHA:1563
Mucopolysaccharidosis Type 3	Cataract, Optic atrophy, Macroglossia, Conductive hearing impairment, Hearing impairment, Abnorma...	ORPHA:581
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Wide nasal bridge, Cataract, Low-set ears, Microretrognathia, Long philtrum, Hyperammonemia, Trem...	OMIM:614052
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decreased HDL chol...	ORPHA:425
Xeroderma Pigmentosum, Complementation Group B	Cataract, Optic atrophy, Pigmentary retinopathy, Decreased nerve conduction velocity, Sensorineur...	OMIM:610651
Familial Exudative Vitreoretinopathy	Cataract, Hearing impairment, Tractional retinal detachment, Chorioretinal atrophy, Abnormal opti...	ORPHA:891
Lathosterolosis	Cataract, Microcornea, Hearing impairment, Downturned corners of mouth, Long philtrum, Micrognath...	ORPHA:46059
Bosma Arhinia Microphthalmia Syndrome	Cataract, Absent tragus, Cleft lip, Conductive hearing impairment, Atresia of the external audito...	OMIM:603457
Carpenter Syndrome 1	Low-set ears, Optic atrophy, Microcornea, Hypoplasia of the maxilla, Conductive hearing impairmen...	OMIM:201000
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperpigmentation of the skin, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Optic atrophy, Tremor, Sensorineural hearing impairment, Decreased distal sensory nerve...	ORPHA:99956
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, High palate, Iris coloboma, Blepharospasm, Cataract, Hypop...	ORPHA:861
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment	OMIM:256540
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Irregular hyperpigmentation, Hypopigmented skin ...	ORPHA:2907
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Hyperpigmented streaks, Delayed eruption of primary teeth	OMIM:300952
Wolfram Syndrome 1	Cataract, Pigmentary retinopathy, Optic atrophy, Hearing impairment, Tremor, Sensorineural hearin...	OMIM:222300
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Carious teeth, Hearing impairment, Widely spaced teeth, Grayish enamel, Op...	OMIM:253000
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Abnormality of the dentition, Posterior subcapsular cataract, Hearing impairment, O...	ORPHA:536471
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Kindler Epidermolysis Bullosa	Carious teeth, Periodontitis, Abnormal dental enamel morphology, Premature loss of primary teeth,...	ORPHA:2908
Xeroderma Pigmentosum	Cataract, Optic atrophy, Craniofacial hyperostosis, Keratitis, Hearing impairment, Hypopigmented ...	ORPHA:910
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Cataract, Abnormal helix morphology, High, narrow palate, Macroglossia, Hearing imp...	OMIM:214100
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Premature Aging Syndrome, Okamoto Type	Low-set ears, Cataract, Abnormal pinna morphology	OMIM:601811
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber,...	ORPHA:79098
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Congenital Disorder Of Deglycosylation 1	Low-set ears, Open mouth, Action tremor, Hyperalaninemia, Corneal opacity, Decreased sensory nerv...	OMIM:615273
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Linear hyperpigmentation, Limbal dermoid, Hypoplasia of the iris	OMIM:613001
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Mucopolysaccharidosis, Type Vii	Hearing impairment, Widely spaced teeth, Recurrent otitis media, Gingival overgrowth, Sensorineur...	OMIM:253220
Neuroocular Syndrome 1	Low-set ears, Ankyloglossia, Torus palatinus, Lens coloboma, Brushfield spots, Iris coloboma, Cat...	OMIM:619539
Oculodentodigital Dysplasia	Cataract, Microcornea, Carious teeth, Conductive hearing impairment, Broad alveolar ridges, Selec...	OMIM:164200
Oculoectodermal Syndrome	Wide nasal bridge, Hyperpigmented streaks, Microcornea, Chorioretinal atrophy, Astigmatism, Hyper...	OMIM:600268
Mucopolysaccharidosis Type 6	Hearing impairment, Thick lower lip vermilion, Sinusitis, Macroglossia, Opacification of the corn...	ORPHA:583
Amyloidosis, Finnish Type	Cataract, Optic neuropathy, Orthostatic hypotension, Lattice corneal dystrophy	OMIM:105120
Fabry Disease	Cataract, Optic atrophy, Hearing impairment, Abnormal circulating lipid concentration, Thick lowe...	ORPHA:324
Mosaic Variegated Aneuploidy Syndrome	Cataract, Hearing impairment, Low-set, posteriorly rotated ears, Micrognathia, Multiple cafe-au-l...	ORPHA:1052
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Hyperpigmentation of the skin, Orthostatic hypotension, Abnormal autonomic nervous...	OMIM:231550
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Aganglionic megacolon, Abnormal pupil morphology	ORPHA:2151
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratoconjunctivitis sicca, Keratitis	OMIM:619016
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Micrognathia, Protruding ear, Long nose, Short philtrum, ...	ORPHA:52
Microphthalmia, Syndromic 2	Iris coloboma, Microcornea, Bifid uvula, Cupped ear, Delayed eruption of teeth, Long philtrum, De...	OMIM:300166
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Hy...	ORPHA:206436
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Ocular albinism, Partial albinism,...	ORPHA:79430
Cowden Syndrome 5	Cataract, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia, Narrow mo...	OMIM:615108
Alpha-Mannosidosis, Infantile Form	Cataract, Macroglossia, Widely spaced teeth, Abnormality of the sphenoid sinus, Astigmatism, Otit...	ORPHA:309282
Frontorhiny	Cataract, Hypoplasia of the maxilla, Low-set, posteriorly rotated ears, Cleft palate, Congenital ...	ORPHA:391474
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Opacification of the corneal stroma	OMIM:252605
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Conjunctivitis	OMIM:226600
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy	OMIM:300578
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re...	OMIM:616881
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Notched primary central incisor, Cleft lip, Corneal opacity	OMIM:620519
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognat...	OMIM:170390
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Hyperphosphatemia, Hypocalcemic tetany, Persistence of primary teeth, Papilledema,...	ORPHA:93325
Retinitis Pigmentosa 97	Macular degeneration, Iris atrophy	OMIM:620422
Neurofibromatosis Type 1	Cataract, Inguinal freckling, Axillary freckling, Hearing impairment, Chorioretinal coloboma, Hyp...	ORPHA:636
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Hypokalemia, Hypophosphatem...	ORPHA:411629
Neurocardiofaciodigital Syndrome	Cataract, Hearing impairment, Retrognathia, Sclerocornea, Optic disc pallor, High palate, Thin ve...	OMIM:619869
Mucoepithelial Dysplasia, Hereditary	Cataract, Hearing impairment, Erythematous oral mucosa, Furrowed tongue, Corneal neovascularizati...	OMIM:158310
Congenital Tufting Enteropathy	Cataract, Optic disc coloboma, Punctate keratitis, Orofacial cleft, Corneal erosion	ORPHA:92050
Familial Glucocorticoid Deficiency	Hyponatremia, Generalized hyperpigmentation, Hyperkalemia	ORPHA:361
Mucopolysaccharidosis Type 2	Wide nasal bridge, Optic atrophy, Otosclerosis, Conductive hearing impairment, Temporomandibular ...	ORPHA:580
Farber Disease	Macular degeneration, Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corne...	ORPHA:333
Elsahy-Waters Syndrome	Low-set ears, Megalocornea, High palate, Increased cup-to-disc ratio, Cataract, Hypoplasia of the...	OMIM:211380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Macroglossia, Peters anomaly, Cleft upper lip, Elevated circulating creatine kinase con...	OMIM:613150
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Pigmentary retinopathy, Peters anomaly, Hearing impairment, Sclerocornea, Iris coloboma...	OMIM:309801
Mucopolysaccharidosis Type 2, Severe Form	Wide nasal bridge, Optic atrophy, Otosclerosis, Conductive hearing impairment, Temporomandibular ...	ORPHA:217085
Charcot-Marie-Tooth Disease Type 1F	Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ...	ORPHA:101085
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Bilateral vestibular schwannoma, Vestibular schwannoma, Sensorine...	ORPHA:637
Intermediate Uveitis	Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Macular scar, Anterior u...	ORPHA:279914
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Tremor, Transient hypophosphatemia, Hyperkalemia, Mildly el...	ORPHA:79102
Hypercholesterolemia, Familial, 3	Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Hallermann-Streiff Syndrome	Low-set ears, Cataract, High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Opt...	OMIM:234100
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Cataract, Abnormal helix morphology, Optic atrophy, Pigmentary retinopathy, Hearing...	OMIM:614866
Addison Disease	Vitiligo, Hyperuricemia, Hyponatremia, Hyperpigmentation of the skin, Orthostatic hypotension, Hy...	ORPHA:85138
Vici Syndrome	Low-set ears, Cataract, Hypopigmentation of the skin, Everted upper lip vermilion, Long philtrum,...	OMIM:242840
Frontofacionasal Dysplasia	Cataract, Microcornea, Hypoplasia of the frontal bone, Bifid uvula, Cleft upper lip, Malar flatte...	OMIM:229400
Mucopolysaccharidosis Type 2, Attenuated Form	Wide nasal bridge, Optic atrophy, Otosclerosis, Conductive hearing impairment, Temporomandibular ...	ORPHA:217093
Smith-Lemli-Opitz Syndrome	Micrognathia, Sensorineural hearing impairment, Iris coloboma, Cataract, Low-set, posteriorly rot...	ORPHA:818
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Pigmentary retinopathy, Vitiligo, Tympanosclerosis, Keratoconjunctivitis, Iridocyclitis...	OMIM:240300
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract, Abnormality of the dentition, Hearing impairment, Hyperlipidemia, Hyperpigmentation of ...	ORPHA:90153
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Adult-Onset Autosomal Dominant Leukodystrophy	Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo...	ORPHA:99027
Corneodermatoosseous Syndrome	Carious teeth, Hearing impairment, Abnormal dental enamel morphology, Gingivitis, Corneal dystrophy	ORPHA:3194
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Low-set ears, Cataract, Hearing impairment, Long philtrum, Megalocornea, Narrow mouth, Malar flat...	OMIM:601353
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, Retrognathia, Abnormal lip morphology, Macroti...	ORPHA:171929
Mosaic Trisomy 9	Low-set ears, Micrognathia, Corneal opacity, High palate, Cleft palate	ORPHA:99776
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Sensorineural hearing impairment, Keratoconjunct...	OMIM:278730
Weill-Marchesani Syndrome 2	Cataract, Microspherophakia, Tooth malposition, Ectopia lentis, Hypoplasia of the maxilla, Narrow...	OMIM:608328
Lymphedema-Hypoparathyroidism Syndrome	Wide nasal bridge, Cataract	OMIM:247410
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Mandibular prognathia, Prominent antihelix, Delayed eruption of teeth, Age...	OMIM:268400
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Wolf-Hirschhorn Syndrome	Wide nasal bridge, Optic atrophy, Hearing impairment, Abnormal lip morphology, Megalocornea, Low-...	ORPHA:280
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Anterior chamber synechiae, Uveitis	ORPHA:85410
Peters Plus Syndrome	Cataract, Microcornea, Optic atrophy, Peters anomaly, Microtia, second degree, Conductive hearing...	ORPHA:709
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia	OMIM:144010
Mucopolysaccharidosis, Type Vi	Carious teeth, Delayed eruption of teeth, Hearing impairment, Corneal opacity, Macroglossia	OMIM:253200
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Low-set ears, Tented philtrum, Long philtrum, Micrognathia, Keratoconjunctivitis sicca, Corneal o...	ORPHA:495875
Tangier Disease	Hypocholesterolemia, Facial diplegia, Hypertriglyceridemia, Corneal opacity	ORPHA:31150
Mirage Syndrome	Hyponatremia, Hyperkalemia	OMIM:617053
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Generalized hyperpigmentation, Hyponatremia, Gene...	ORPHA:168558
Gorlin Syndrome	Wide nasal bridge, Cataract, Mandibular prognathia, Carious teeth, Melanocytic nevus, Orofacial c...	ORPHA:377
Lathosterolosis	Cataract, Elevated circulating lathosterol concentration, Long philtrum, Thick upper lip vermilio...	OMIM:607330
Juvenile Nephropathic Cystinosis	Hypouricemia, Abnormal cornea morphology, Corneal crystals, Elevated circulating creatinine conce...	ORPHA:411634
Mogs-Cdg	Optic atrophy, Retrognathia, Sensorineural hearing impairment, Dystonia, Absent brainstem auditor...	ORPHA:79330
Schimke Immunoosseous Dysplasia	Wide nasal bridge, Hypermelanotic macule, Astigmatism, Microdontia, Opacification of the corneal ...	OMIM:242900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Generalized hyperpigmentation, Hyponatremia, Gene...	ORPHA:289548
Meckel Syndrome	Cataract, Microcornea, Optic atrophy, Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rota...	ORPHA:564
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperpigmentation of the skin, Hyperkalemia	ORPHA:90790
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Anterior lenticonus, Hearing impairment, High-frequency sensorineural hearing impairmen...	OMIM:308940
East Syndrome	Hypomagnesemia, Action tremor, Sensorineural hearing impairment, Hypokalemia, Increased circulati...	ORPHA:199343
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Sensorineural hearing impairment, Coloboma, Sclerocornea, Bilatera...	OMIM:206900
Wilson Disease	Hypouricemia, Sunflower cataract, Hypoalbuminemia, Hand tremor, Kayser-Fleischer ring, Decreased ...	OMIM:277900
Spondyloepiphyseal Dysplasia, Maroteaux Type	Opacification of the corneal stroma	OMIM:184095
Congenital Syphilis	Cataract, Optic atrophy, Keratitis, Hearing impairment, Hyperplasia of the maxilla, Chorioretinit...	ORPHA:499009
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Incontinentia Pigmenti	Optic atrophy, Cataract, Conical tooth, Keratitis, Delayed eruption of teeth, Oligodontia, Hypodo...	OMIM:308300
Van Den Ende-Gupta Syndrome	High, narrow palate, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Narrow mouth, Mala...	OMIM:600920
Histiocytoid Cardiomyopathy	Optic atrophy, Megalocornea, Corneal opacity, Congenital aphakia, Cleft palate	ORPHA:137675
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Larsen Syndrome	Conductive hearing impairment, Hearing impairment, Cleft upper lip, Malar flattening, Hypodontia,...	OMIM:150250
Wilson Disease	Kayser-Fleischer ring	ORPHA:905
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Enamel hypomineralization, Hypokalemia, Coloboma, Bicarbonaturia	ORPHA:47159
Williams Syndrome	Carious teeth, Megalocornea, Open bite, Micrognathia, Sensorineural hearing impairment, Posterior...	ORPHA:904
Alzahrani-Kuwahara Syndrome	Low-set ears, Cataract, Hearing impairment, Long philtrum, Micrognathia, Astigmatism, Hypodontia,...	OMIM:619268
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Mosaic Trisomy 1	Wide nasal bridge, Low-set ears, Microretrognathia, Thick lower lip vermilion, Orofacial cleft, S...	ORPHA:1692
Phace Syndrome	Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma, Optic nerve hypoplasia	ORPHA:42775
Cockayne Syndrome	Lentiglobus, Carious teeth, Action tremor, Delayed eruption of primary teeth, Optic disc pallor, ...	ORPHA:191
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Iris coloboma, Corneal opacity	ORPHA:2396
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Coats Disease	Leukocoria, Exudative retinal detachment	OMIM:300216
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hearing impairment, Tinnitus, Telangiectasia of the oral mucosa, Thick vermilion border, Lip tela...	ORPHA:79280
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy	OMIM:268100
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Submucous cleft...	ORPHA:2250
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Cataract, Elevated circulating alpha-fetoprotein concentration, Hypermethioninem...	ORPHA:247598
Hutchinson-Gilford Progeria Syndrome	Conductive hearing impairment, Retrognathia, High-frequency sensorineural hearing impairment, Pro...	ORPHA:740
Legius Syndrome	Cataract, Inguinal freckling, Hearing impairment, Vestibular schwannoma, Multiple cafe-au-lait sp...	ORPHA:137605
Kindler Syndrome	Symblepharon, Carious teeth, Periodontitis, Spotty hyperpigmentation, Oral leukoplakia, Spotty hy...	OMIM:173650
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri...	ORPHA:280921
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Stickler Syndrome	Hearing impairment, Open bite, Micrognathia, Sensorineural hearing impairment, Short hard palate,...	ORPHA:828
Mednik Syndrome	Sensorineural hearing impairment, Cataract, Increased circulating very long-chain fatty acid conc...	OMIM:609313
Stuve-Wiedemann Syndrome 1	Low-set ears, Carious teeth, Blotching pigmentation of the skin, Pursed lips, Smooth tongue, Micr...	OMIM:601559
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals, Retinal pigment epithelial mottling	OMIM:219900
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Protruding ear, Retinal detachment, Corneal opacity, Optic disc pallor	ORPHA:464311
Congenital Fibrosis Of Extraocular Muscles	Cataract, Congenital sensorineural hearing impairment, Abnormal pupil shape, Torticollis, Anisoco...	ORPHA:45358
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Optic atrophy, Resting tremor, Cerulean cataract, Anter...	ORPHA:67036
Neonatal Marfan Syndrome	Wide nasal bridge, Low-set ears, Crumpled ear, High, narrow palate, Ectopia lentis, Megalocornea,...	ORPHA:284979
Limb Body Wall Complex	Wide nasal bridge, Cleft lip, Corneal opacity, Lens subluxation, Iris coloboma, Cleft palate	ORPHA:2369
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Pearson Syndrome	Cataract, Pigmentary retinopathy, Hearing impairment, Hypomagnesemia, Median cleft palate, Hypoca...	ORPHA:699
Ciliary Dyskinesia, Primary, 1	Abnormal cornea morphology, Conductive hearing impairment, Chronic sinusitis, Absent frontal sinu...	OMIM:244400
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity, Abnormal pupil morphology, Sensorineural hearing impairment,...	ORPHA:90658
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Ethylene Glycol Poisoning	Facial palsy, Hyperkalemia, Hypocalcemia	ORPHA:31826
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Gaucher Disease	Gingival bleeding, Hearing impairment, Decreased HDL cholesterol concentration, Increased circula...	ORPHA:355
Multiple System Atrophy 1, Susceptibility To	Tremor, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Iris atrophy	OMIM:146500
Liddle Syndrome	Hypokalemia	ORPHA:526
Holoprosencephaly 2	Bifid uvula, Chorioretinal coloboma, Median cleft palate, Malar flattening, Submucous cleft hard ...	OMIM:157170
Roberts-Sc Phocomelia Syndrome	Wide nasal bridge, Cataract, Low-set ears, Hyperplasia of the maxilla, Cleft upper lip, Micrognat...	OMIM:268300
Collagenoma, Familial Cutaneous	Sensorineural hearing impairment, Iris atrophy	OMIM:115250
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cataract, Optic atrophy, Resting tremor, Head tremor, Sensorineural hearing impairment	ORPHA:314404
Fraser Syndrome 1	Wide nasal bridge, Low-set ears, Cupped ear, Atresia of the external auditory canal, Conductive h...	OMIM:219000
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Bilateral sensorineural hearing impairment, Hypokalemia	OMIM:602722
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Deep philtrum	ORPHA:289483
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Protruding ear, Corneal opacity, Optic disc pallor, Macrotia	ORPHA:464306
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, EEG abnormality	ORPHA:206448
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Retinal detachment	OMIM:219250
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cataract, Bifid uvula, Conductive hearing impairment, Delayed eruption of teeth, Dental crowding,...	OMIM:300990
Monosomy 13Q14	Wide nasal bridge, Cataract, Low-set ears, Micrognathia, Protruding ear, Thickened helices, Iris ...	ORPHA:1587
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Recurrent otitis media, Narrow mouth, Action tremor, Absent earlobe, C...	ORPHA:3455
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Hypopigmentation of the skin, Long philtrum, Megalocornea, R...	OMIM:252500
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia...	OMIM:219800
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Hear...	ORPHA:666
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tremor	OMIM:613239
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia...	ORPHA:91500
Revesz Syndrome	Fine, reticulate skin pigmentation, Leukocoria, Oral leukoplakia, Megalocornea	OMIM:268130
Facial Spasm	Anisocoria	OMIM:134300
Miller Fisher Syndrome	Mydriasis, Anisocoria, Facial palsy, EEG with generalized slow activity	ORPHA:98919
Blau Syndrome	Cataract, Nongranulomatous uveitis, Band keratopathy, Abnormal cranial nerve morphology, Iritis, ...	OMIM:186580
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Trichinellosis	Conjunctival hyperemia, Tinnitus, Facial palsy, Trismus, Anisocoria, Retinal hemorrhage, Conjunct...	ORPHA:863
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Scalp-Ear-Nipple Syndrome	Low-set ears, Cataract, Bifid uvula, Mandibular prognathia, Cupped ear, Underdeveloped tragus, Ag...	OMIM:181270
Thrombocytopenia-Absent Radius Syndrome	Cataract, Micrognathia, Malar flattening, Corneal opacity, Cleft palate	OMIM:274000
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Hypokalemia,...	ORPHA:769
Knobloch Syndrome 1	Band keratopathy, Peripapillary atrophy, Chorioretinal atrophy, Iris transillumination defect, Co...	OMIM:267750
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hyperkalemia, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:275761
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Macrotia, Abnormal dental enamel morphology, Astigmatism, Aganglionic megacolon, Corne...	ORPHA:2273
Bartsocas-Papas Syndrome 1	Axillary pterygium, Low-set ears, Hypoplasia of the maxilla, Popliteal pterygium, Cupped ear, Cle...	OMIM:263650
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Microphthalmia, Syndromic 6	Low-set ears, Bifid uvula, Microcornea, Microglossia, Hearing impairment, Retrognathia, Micrognat...	OMIM:607932
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cataract, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Conductiv...	ORPHA:306542
Scalp-Ear-Nipple Syndrome	Cataract, Abnormality of the dentition, Delayed eruption of teeth, Underdeveloped tragus, Underde...	ORPHA:2036
Romano-Ward Syndrome	Hypokalemia, Abnormal autonomic nervous system physiology	ORPHA:101016
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Familial Hyperaldosteronism Type I	Tinnitus, Hypokalemia	ORPHA:403
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypomagnesemia, Sensorineural hearing impairment, Hypokalemia, Intention tremor, Increased circul...	OMIM:612780
Familial Hyperaldosteronism Type Ii	Tinnitus, Hypokalemia	ORPHA:404
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Tinnitus, Athetosis, Hypokalemia	ORPHA:369929
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Hypoplasia of the nasal bone	OMIM:118650
Mercury Poisoning	Hypokalemia, Dystonia, Tremor	ORPHA:330021
Yunis-Varon Syndrome	Low-set ears, Cataract, High, narrow palate, Hearing impairment, Gingival recession, Broad second...	ORPHA:3472
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Ectopic Aldosterone-Producing Tumor	Tinnitus, Hypokalemia, Decreased circulating renin level	ORPHA:231632
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Reduced circulating cortisol-binding globulin concentration	OMIM:611489
Cutis Marmorata Telangiectatica Congenita	Micrognathia, Leukocoria, Orofacial cleft, Retinal detachment, Multiple cafe-au-lait spots	ORPHA:1556
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia	ORPHA:340
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Fryns Syndrome	Wide nasal bridge, Low-set ears, Abnormal helix morphology, Microretrognathia, Long philtrum, Cle...	OMIM:229850
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Abnormality iris morphology, Retrognathia	ORPHA:91387
Familial Hyperaldosteronism Type Iii	Tinnitus, Hypokalemia	ORPHA:251274
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Primary Unilateral Adrenal Hyperplasia	Tinnitus, Hypokalemia, Decreased circulating renin level	ORPHA:231580
Mowat-Wilson Syndrome	Wide nasal bridge, Cataract, Microcornea, Abnormal enteric ganglion morphology, Cupped ear, Tooth...	OMIM:235730
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Athetosis, Decreased circulating renin level	OMIM:615474
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Tinnitus, Hypokalemia, Decreased circulating renin level	ORPHA:231625
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Autosomal Dominant Cutis Laxa	Low-set ears, Protruding ear, Developmental cataract, Corneal opacity	ORPHA:90348
Bartter Syndrome, Type 3	Hypokalemia, Hyperchloriduria, Abnormal choroid morphology, Increased circulating renin level	OMIM:607364
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Sensorineural hearing impairment, Papilledema, Corneal opacity	ORPHA:2072
Neurooculorenal Syndrome	Micrognathia, Sensorineural hearing impairment, Iris atrophy, Mixed hearing impairment, Broad phi...	OMIM:620305
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Scorpion Envenomation	Mydriasis, Tremor, Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circu...	ORPHA:466677
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Digeorge Syndrome	Low-set ears, High, narrow palate, Bifid uvula, Recurrent otitis media, Micrognathia, Hypocalcemi...	OMIM:188400
Acromelic Frontonasal Dysostosis	Wide nasal bridge, Low-set ears, Cleft upper lip, Submucous cleft soft palate, Remnants of the hy...	OMIM:603671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Retinal dysplasia, Opacification of the corneal stroma, Optic nerve dysplasia, Elevated circulati...	OMIM:615287
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Retinoblastoma	Hypopyon, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Heteroch...	ORPHA:790
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:613090
Osteoporosis-Pseudoglioma Syndrome	Cataract, Retinal calcification, Absent anterior chamber of the eye, Iris atrophy	OMIM:259770
Fanconi-Bickel Syndrome	Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp...	OMIM:227810
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Nelson Syndrome	Hypokalemia, Abnormality of the sphenoid sinus, Generalized hyperpigmentation, Optic nerve compre...	ORPHA:199244
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Hyperpigmentation of the skin, Decreased circulating renin level	ORPHA:90795
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Conductive hearing impairment, Malar flattening, Decreased circulating renin level,...	OMIM:201750
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Keratoconus, Abnormality of the dentition, Carious teeth, Per...	ORPHA:286
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Ectopia pupillae, Recurrent otitis media, Open mouth, Axenfeld anomaly, Sensor...	ORPHA:261552
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Osteootohepatoenteric Syndrome	Hypokalemia, Hearing impairment, Increased serum bile acid concentration	OMIM:619377
Bartter Syndrome Type 4	Hypomagnesemia, Protruding ear, Hypokalemia, Hyponatremia, Bilateral sensorineural hearing impair...	ORPHA:89938
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Retinoblastoma	Leukocoria, Retinal calcification, Cleft palate	OMIM:180200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Hyperpigmentation of the skin, Decreased circulating renin level	OMIM:202010
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia	OMIM:219090
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Adrenocortical Carcinoma	Hypokalemia	ORPHA:1501
Yunis-Varon Syndrome	Low-set ears, Cataract, Hypoplastic facial bones, Broad alveolar ridges, Cupped ear, Prominent an...	OMIM:216340
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:602522
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, M...	OMIM:241200
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Hearing impairment, Corneal neovascularization, Neonatal death, Recurrent corneal eros...	OMIM:308205
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hypokalemia, Cleft palate, Hypertriglyceri...	OMIM:619573
Gitelman Syndrome	Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Tinnitus, Hypokalemia	ORPHA:358
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Leprechaunism	Low-set ears, Protruding ear, Hypokalemia, Thick vermilion border, Increased circulating renin level	ORPHA:508
Distal Renal Tubular Acidosis	Hypokalemia, Enlarged vestibular aqueduct, Sensorineural hearing impairment	ORPHA:18
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Tremor	ORPHA:91347
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786

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.

There is no histopathology data for Agap1

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 Agap1.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Agap1^{tm1a(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Agap1^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Agap1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Agap1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Agap1^{tm1a(EUCOMM)Wtsi}	PMC5827107
Searching the Mouse Genome Informatics (MGI) Resources for Information on Mouse Biology from Genotype to Phenotype.	Current protocols in bioinformatics (December 2016)	Agap1^{tm1a(EUCOMM)Wtsi1}	PMC5147750

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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
Agap1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Agap1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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

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Gene: Agap1 MGI:2653690

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

X-ray

Eye Morphology

Anti-nuclear antibody assay

X-ray

X-ray

X-ray

DSS Histology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Agap1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data