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

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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 Skull Dorso Ventral 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 Lateral Orientation

14 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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Eye Morphology

Images Slit Lamp

18 Images

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X-ray

XRay Images Whole Body Lateral 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 (852 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	Abnormality of skin pigmentation, Cataract, Hearing impairment	OMIM:300719
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation, Cataract, Optic atrophy	ORPHA:2253
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Abnormal antihelix morphology, Cataract, Chorioretinal coloboma, Hearing impairment	OMIM:274205
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Tremor, Optic atrophy, Hearing impairment	OMIM:165300
Galactosialidosis	Corneal opacity, Hearing impairment	ORPHA:351
Mucous Membrane Pemphigoid	Corneal opacity, Gingivitis, Oral mucosal blisters	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
Spastic Paraparesis And Deafness	Tremor, Cataract, Hearing impairment	OMIM:312910
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, B...	ORPHA:1473
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity, Median cleft palate	ORPHA:2432
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Cleft palate	ORPHA:90654
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Nathalie Syndrome	Sensorineural hearing impairment, Cataract	ORPHA:2663
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Sensorineural hearing impairment, Iris cyst, Optic atrophy	OMIM:620086
Winchester Syndrome	Corneal opacity, Gingival overgrowth	OMIM:277950
Otodental Syndrome	Lens coloboma, Microcornea, Periodontitis, Abnormal dental pulp morphology, Iris coloboma, Abnorm...	ORPHA:2791
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
X-Linked Retinoschisis	Cataract	ORPHA:792
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract, High palate, Micrognathia	OMIM:614882
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, Chorioretinal colob...	OMIM:601706
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Corneal opacity, Thin vermilion border, Narrow mouth, Short nose	ORPHA:2370
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Cataract, Abnormality iris morphology, Cleft palate, Coloboma,...	ORPHA:1617
Morquio Syndrome C	Corneal opacity	OMIM:252300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Sensorineural hearing impairment, Cataract, Developmental cataract	OMIM:613076
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma, Hearing impairment	OMIM:120433
Trichomegaly	Cataract	OMIM:190330
Spastic Paraparesis-Deafness Syndrome	Sensorineural hearing impairment, Cataract	ORPHA:2815
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hand tremor, Hearing impairment	ORPHA:401830
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Harel-Yoon Syndrome	Mandibular prognathia, Corneal opacity, Micrognathia, Optic atrophy, Developmental cataract, Dyst...	OMIM:617183
Gómez-López-Hernández Syndrome	Thin vermilion border, Corneal opacity, Low-set ears	ORPHA:1532
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Retinal detachment, Thin upper lip vermilion, Cataract, Corneal opacity, C...	OMIM:152950
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Corneal Dystrophy And Perceptive Deafness	Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Mucolipidosis Iv	Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration	OMIM:252650
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration	OMIM:609115
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Kahrizi Syndrome	Cataract, Thick vermilion border, Iris coloboma, Wide nasal bridge	OMIM:612713
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Hypermelanotic macule, Protruding ear, Irregular hyperpigmentation, He...	ORPHA:317
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Cataract, Corneal opacity, Open bite, Dental ma...	ORPHA:61
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	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, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Abnormality of the den...	ORPHA:3163
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attached earlobe, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial a...	OMIM:616108
Mucolipidosis Type Iii	Craniofacial hyperostosis, Corneal opacity, Cleft palate	ORPHA:577
Nathalie Syndrome	Cataract, Hearing impairment	OMIM:255990
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, High palate, Narrow mouth, Retrognathia	ORPHA:2528
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Posteriorly rotated ears, Micrognathia, Keratitis, Wide nasal bridge, Wide mouth...	OMIM:602562
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Abnormal pupil morphology, Elevated circulating creatine kin...	ORPHA:101082
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of the antihelix, Hea...	ORPHA:2489
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optic atrophy, Chorioretinal atrophy, Peripheral tr...	OMIM:143200
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	EEG abnormality, Corneal opacity, Developmental cataract	OMIM:618815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:613153
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Malar flattening, Cataract, Cleft palate	OMIM:300261
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L...	OMIM:310600
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Corneal dystrophy, Opa...	OMIM:180900
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Thin upper lip vermilion, Abnormal auditory evoked potentials, Astigmatism, Hi...	OMIM:617523
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ...	ORPHA:2334
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract, Abnormality of the dentition	ORPHA:2278
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Scheie Syndrome	Mandibular prognathia, Corneal opacity, Retinal degeneration	OMIM:607016
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hea...	OMIM:109120
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Optic atr...	ORPHA:496790
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Irregular dentition, Cataract, Macular coloboma, Macular atrophy, Abnormal aud...	OMIM:619260
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemi...	OMIM:144300
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Sialidosis Type 1	Cataract, Corneal opacity, Decreased nerve conduction velocity, Tremor, Sensorineural hearing imp...	ORPHA:812
Bartsocas-Papas Syndrome 2	Corneal opacity, Accessory oral frenulum, Micrognathia, Antecubital pterygium, Bilateral cleft li...	OMIM:619339
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Sjogren-Larsson Syndrome	Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Macular degeneration...	OMIM:270200
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Micrognathia, Sensorineural hearing impairment, Op...	ORPHA:1466
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Sensorineural hearing impairment, Hy...	ORPHA:3214
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary central incisors, Shor...	OMIM:608227
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Tremor, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Incre...	OMIM:614307
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Chorioretin...	OMIM:251270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Micrognathia, Optic atrophy, Microcornea	OMIM:616171
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy	OMIM:604278
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Long philtrum, Ocu...	OMIM:615145
Oculomaxillofacial Dysostosis	Median cleft lip, Corneal opacity, Micrognathia, Abnormality of the dentition, Wide nasal bridge,...	ORPHA:1794
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Protruding ear, Microcor...	ORPHA:1806
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Cataract	OMIM:613801
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Cataract, Hypermelanotic macule, Dela...	ORPHA:90321
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Abnormality of the dentition, Microspherophakia, Deep anterior cham...	OMIM:251750
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Megalocornea, Corneal opacity, Temporomandibular joint ankylosis	ORPHA:2741
Stickler Syndrome, Type Ii	Retinal detachment, Cataract, Micrognathia, High, narrow palate, Sensorineural hearing impairment...	OMIM:604841
Sialidosis Type 2	Tremor, Corneal opacity, Hearing impairment	ORPHA:87876
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi...	OMIM:166750
Stickler Syndrome, Type V	Retinal detachment, Sensorineural hearing impairment, Cataract, Pierre-Robin sequence	OMIM:614284
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Corneal opacity, EEG abnormality, Everted lower lip vermilio...	ORPHA:578
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Walker-Warburg Syndrome	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Posteriorly rotated ears,...	ORPHA:899
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural hearing impairment,...	ORPHA:290
Combined Oxidative Phosphorylation Deficiency 13	Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoathetosis,...	OMIM:614932
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity	ORPHA:93476
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Sensorineural hearing impairment, Optic disc drusen, Pigmentary retinopath...	OMIM:204000
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Low-set, posteriorly rotated ears, Cataract, Accessory oral frenulum	ORPHA:1373
Usher Syndrome Type 1	Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea m...	ORPHA:231169
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Autosomal Recessive Stickler Syndrome	Retinal detachment, Cataract, Micrognathia, Sensorineural hearing impairment, Cleft palate, Astig...	ORPHA:250984
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Stickler Syndrome Type 1	Retinal detachment, Cataract, Hypoplasia of the maxilla, Sensorineural hearing impairment, Cleft ...	ORPHA:90653
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Cataract	OMIM:614876
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Sensorineural hearing impairment, Cataract, Elevated circulating creatine kinase concentration, C...	OMIM:615350
Hypomelanosis Of Ito	Cataract, Macular hypopigmented whorls, streaks, and patches, Thick lower lip vermilion, Irregula...	OMIM:300337
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Mandibular prognathia, Cataract, Optic nerve hypoplasia, Microg...	OMIM:620157
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Xeroderma Pigmentosum, Complementation Group G	Tremor, Cataract	OMIM:278780
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract, High, narrow palate, Low-set ears, Malar flattening, Macrotia	ORPHA:3433
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft pal...	ORPHA:251038
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Sensorineural hearing impairment, Microcornea, High palate, Chorioretinal...	ORPHA:139471
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Spotty hypopigmentation, Hyperpigmentation of the skin	ORPHA:1867
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Intestinal Dysmotility Syndrome	Broad philtrum, Cataract, High palate, Low-set ears	OMIM:620045
Zellweger Syndrome	Cataract, Corneal opacity, Abnormal chorioretinal morphology, Micrognathia, Brushfield spots, Ext...	ORPHA:912
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Nance-Horan Syndrome	Mandibular prognathia, Retinal detachment, Cataract, Abnormality of the dentition, Supernumerary ...	ORPHA:627
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Corneal opacity, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality ...	ORPHA:364577
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Corneal opacity, Abnormal dental enamel morphology, Micrognath...	ORPHA:2323
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Micrognathia, Sensorineural hearing impairment, Optic atrophy, ...	ORPHA:163937
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract, Elevated circulating creatine kinase concentration	OMIM:615352
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy	OMIM:180104
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, Orofacial cle...	ORPHA:96125
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Micrognathia, Malar prominence, Microcornea, Abnormality of peripheral nerve conduction...	ORPHA:48431
Prune1-Related Neurological Syndrome	Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Optic atrophy, EEG ab...	ORPHA:544469
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Corneal opacity, Micrognathia	OMIM:166300
Usher Syndrome Type 3	Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Iris hypopi...	ORPHA:231183
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Alg2-Cdg	Hypsarrhythmia, Cataract, Iris coloboma, Wide nasal bridge	ORPHA:79326
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Sensorineural hearing impairment, Ocular albinism, EEG abnormality, At...	ORPHA:2719
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Exaggerated cupid's bow, Sclerocornea, Hearing impairment, Micrognathi...	ORPHA:284160
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Corneal opacity, Coloboma, Hypophosphatemic rickets, Hypopigmentatio...	OMIM:163200
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract	OMIM:273680
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract, Micrognathia, EEG abnormality	ORPHA:3173
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Lowry-Maclean Syndrome	Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High...	ORPHA:2409
Cone-Rod Dystrophy 16	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy	OMIM:614500
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Sensorineural h...	ORPHA:44
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Retinitis Pigmentosa 4	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy	OMIM:613731
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Corneal opacity, Micrognathia, Developmental glaucoma, Downturned corners of mouth, Aniridia	ORPHA:1064
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge, Microcornea, Short philtrum,...	OMIM:601499
Flynn-Aird Syndrome	Carious teeth, Progressive sensorineural hearing impairment, Cataract	OMIM:136300
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Micrognathia, Sensorineural hearing impairment, Wide nasal bridge, Protruding ear, ...	ORPHA:2479
Oculoauricular Syndrome	Retinal detachment, Cataract, Short mandibular rami, Sclerocornea, Absent earlobe, Chorioretinal ...	OMIM:612109
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Wide nasal bridge, Microcornea, Short nose	ORPHA:2557
Wagro Syndrome	Mandibular prognathia, Cataract, Corneal opacity, Dental crowding, Micrognathia, Low-set ears, An...	OMIM:612469
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Postural tremor, Sensorineural hearing impairment, Optic atrophy, Abnormal circulating ...	OMIM:270800
Pseudohypoaldosteronism Type 2	Hyperkalemia, Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Multiple Sulfatase Deficiency	Smooth philtrum, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural he...	ORPHA:585
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Morm Syndrome	Cataract, Retinal atrophy	ORPHA:75858
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Heari...	ORPHA:65
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Conical tooth, Persistence of primary teeth, Optic atrophy, Wide nasal bridge, Dental m...	OMIM:618727
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Posteriorly rotated ears, Micrognathia, Congenital sensorineural hearing impairment, Mi...	OMIM:617306
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Pigmentary retinopathy	OMIM:204100
Bartsocas-Papas Syndrome	Median cleft lip, Corneal opacity, Micrognathia, Cleft palate, Popliteal pterygium, Narrow mouth,...	ORPHA:1234
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Phenylketonuria	Maternal hyperphenylalaninemia, Cataract, Blue irides, Hyperphenylalaninemia, Generalized hypopig...	OMIM:261600
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Scheie Syndrome	Corneal opacity, Sensorineural hearing impairment, Wide mouth, Everted lower lip vermilion, Thick...	ORPHA:93474
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Optic nerve hyp...	ORPHA:370959
Baralle-Macken Syndrome	High, narrow palate, Cafe-au-lait spot, Cataract, Dystonia	OMIM:619255
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Elevated transferrin saturation, Cataract, Hyperpig...	OMIM:606069
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Retinal detachment, Cataract, Ectopia lentis, Abnormality of the denti...	ORPHA:2712
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp...	ORPHA:414
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Corneal opacity	OMIM:618961
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Cataract, Sensorineural hearing impairment, Hand tremo...	OMIM:162400
Fish-Eye Disease	Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont...	ORPHA:1264
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
4H Leukodystrophy	Delayed eruption of teeth, Cataract, Abnormality of the dentition, Tremor, Optic atrophy, Hypodon...	ORPHA:289494
Cataract 47	Microcornea, Cataract	OMIM:612018
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Sensorineural hearing impairment, Opt...	ORPHA:791
Frontonasal Dysplasia 1	Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wide nasal br...	OMIM:136760
Cadds	Cataract, Micrognathia, Sensorineural hearing impairment, Increased circulating very long-chain f...	ORPHA:369942
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Elevated circulating creatine kinase concentration	OMIM:160565
Oculocerebrocutaneous Syndrome	Corneal opacity, External ear malformation, Hypopigmented skin patches, Orofacial cleft, Wide mou...	ORPHA:1647
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, C...	ORPHA:2399
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Wide nasal bridge, Cleft palate, Mi...	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:236670
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Macroglossia	ORPHA:309288
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth, Low-set ears, H...	ORPHA:93399
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl...	ORPHA:54
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, S...	OMIM:612674
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration	ORPHA:3233
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Galactose Mutarotase Deficiency	Cataract, Hypergalactosemia	ORPHA:570422
Linear Verrucous Nevus Syndrome	Abnormal cornea morphology, Cataract, Iris coloboma, Hypophosphatemia	ORPHA:2611
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Atelis Syndrome 1	Cataract, Carious teeth, Microtia, High palate, Long philtrum, Irregular hyperpigmentation, Cafe-...	OMIM:620184
Combined Oxidative Phosphorylation Deficiency 31	Wide mouth, Hyperalaninemia, Cataract, Micrognathia	OMIM:617228
3-Methylglutaconic Aciduria Type 4	Cataract, Hearing impairment, Iris hypopigmentation	ORPHA:67048
Usher Syndrome Type 2	Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Sensorin...	ORPHA:231178
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Cataract, Micrognathia, Furrowed tongue, Abnormal antihelix mo...	ORPHA:1387
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract, Sensorineural hearing impairment, Hypopigmented skin patches, Vitiligo	ORPHA:3437
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Cataract, Abnormal pinna morphology, Deep philtrum, Non-midlin...	ORPHA:1297
Isolated Ectopia Lentis	Mandibular prognathia, Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening	ORPHA:1885
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Developm...	ORPHA:436174
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor	OMIM:609153
Rodrigues Blindness	Microcornea, Tooth malposition, Sclerocornea, Protruding ear	OMIM:268320
Gorlin Syndrome	Mandibular prognathia, Cataract, Carious teeth, Wide nasal bridge, Melanocytic nevus, Iris coloboma	ORPHA:377
Lissencephaly 8	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Hypoadrenocorticism, Familial	Hyponatremia, Abnormality of skin pigmentation, Hyperkalemia	OMIM:240200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Retinal detachment, Cataract, Elevated circulating creatine kinase concen...	OMIM:615181
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity	ORPHA:2788
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Cataract, Dental crowding, Micrognathia, Long nose, Hypoplasia of the ...	OMIM:257850
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Congenital Disorder Of Glycosylation, Type Ii	Cataract, Sensorineural hearing impairment, Wide nasal bridge, Hypsarrhythmia, High palate, Low-s...	OMIM:607906
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Cataract, Malar prominence, Optic atr...	ORPHA:2715
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno...	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno...	ORPHA:529799
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob...	OMIM:212550
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Renpenning Syndrome	Mandibular prognathia, Cataract, Macrodontia, High, narrow palate, Sensorineural hearing impairme...	ORPHA:3242
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Cataract, Tongue fasciculations	OMIM:619851
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Congenital Sialidosis Type 2	Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth, Developmental c...	ORPHA:93400
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Wide nasal bridge...	OMIM:180500
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment, Cataract, Narrow mouth	OMIM:132450
Autosomal Recessive Cutis Laxa Type 2A	Corneal opacity, Athetosis, Abnormal cornea morphology, Long philtrum, Dystonia, Hearing impairment	ORPHA:357058
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Temtamy Syndrome	Dental crowding, Ectopia lentis, Lens luxation, Lop ear, Micrognathia, Hypoplasia of teeth, Low-s...	OMIM:218340
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Everted lower lip vermilion, Micrognathia	ORPHA:893
Peroxisome Biogenesis Disorder 7A (Zellweger)	Cataract, Posteriorly rotated ears, Elevated circulating hexacosanoic acid concentration, Elevate...	OMIM:614872
Dystonia-Deafness Syndrome 1	Cataract, Generalized dystonia, Oculogyric crisis, Cleft upper lip, Sensorineural hearing impairm...	OMIM:607371
Dentici-Novelli Neurodevelopmental Syndrome	Thin upper lip vermilion, Cataract, Hypsarrhythmia, Wide mouth, Widely spaced teeth, Macrotia, He...	OMIM:619877
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Hypokalemia, Hypocalcemia, Hypomagnesemia, Glossitis, Hyperpigmentation of the skin	OMIM:175500
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Sensorineural hearing impairment, ...	OMIM:614230
Mucopolysaccharidosis Type 4	Corneal opacity, Abnormal dental enamel morphology, Abnormality of the dentition, Grayish enamel,...	ORPHA:582
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Congenital Varicella Syndrome	Cataract	ORPHA:291
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Cataract, Sensorineural hearing impairment, Abnormal antitragu...	ORPHA:2377
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Dystonia	OMIM:230650
Peroxisome Biogenesis Disorder 11B	Cataract, Hearing impairment	OMIM:614885
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Tyrosinemia Type 2	Tremor, Malar flattening, Corneal opacity	ORPHA:28378
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Corneal opacity, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Post...	OMIM:301056
Muscle-Eye-Brain Disease	EEG abnormality, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	ORPHA:588
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme...	ORPHA:52368
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Nuclear cataract, Cataract, Hyperkalemia	OMIM:608885
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level	OMIM:610600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat...	OMIM:614643
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Cataract, Tented upper lip vermilion, Retinal pigment epithelial mottling...	OMIM:614105
Aniridia 3	Aniridia, Cataract	OMIM:617142
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Abnormal lens morphology, Hypoplasia of the maxilla, Abno...	ORPHA:363417
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia, Cataract	ORPHA:2643
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity, Conical primary incisor	OMIM:602400
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Neurotrophic Keratopathy	Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem...	ORPHA:137596
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract, Abnormal palate morphology	ORPHA:1381
Cockayne Syndrome A	Mandibular prognathia, Cataract, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory ev...	OMIM:216400
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Pellagra-Like Syndrome	Cataract	OMIM:260650
Neuhauser Syndrome	Iridodonesis, Micrognathia, Cupped ear, Wide nasal bridge, Hypoplasia of the iris, Large fleshy e...	OMIM:249310
Srd5A3-Cdg	Cataract, Optic atrophy, Coloboma, Oligodontia, Spotty hyperpigmentation, Hearing impairment	ORPHA:324737
Cockayne Syndrome B	Mandibular prognathia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Delayed er...	OMIM:133540
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosio...	ORPHA:1764
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria, Cleft palate	OMIM:257910
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko...	ORPHA:2714
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Incontinentia Pigmenti	Delayed eruption of teeth, Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corne...	ORPHA:464
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Cystinosis	Hypokalemia, Corneal opacity, Hypophosphatemia	ORPHA:213
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Dentinogenesi...	OMIM:229200
Zimmermann-Laband Syndrome	Cataract, Generalized hyperpigmentation, Micrognathia, Sensorineural hearing impairment, Supernum...	ORPHA:3473
Ophthalmomandibulomelic Dysplasia	Megalocornea, Temporomandibular joint ankylosis, Opacification of the corneal stroma	OMIM:164900
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity	ORPHA:281090
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Cataract 48	Cataract	OMIM:618415
Birk-Landau-Perez Syndrome	Dystonia, Optic atrophy, Hyperkalemia, Choreoathetosis, Increased circulating creatine kinase MB ...	OMIM:617595
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Axenfeld-Rieger Syndrome, Type 3	Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae o...	OMIM:602482
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Achondrogenesis Type 2	Retinal detachment, Cataract, Pierre-Robin sequence, Lens subluxation, Hearing impairment	ORPHA:93296
Moebius Syndrome	Corneal opacity, Facial palsy, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Toot...	ORPHA:570
Classic Phenylketonuria	Tremor, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia	ORPHA:79254
Mosaic Trisomy 8	Corneal opacity, Abnormal pinna morphology, Micrognathia, Hypopigmented skin patches, Cleft palat...	ORPHA:96061
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy, Macroglossia, Microtia, Short nose, Hearing impairment	ORPHA:1914
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Cataract, Hearing impairment	OMIM:302950
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cataract, Cleft lip, Deep philtrum, Wide nasal bridge, Cleft palate, Protrudin...	OMIM:618571
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Coloboma,...	ORPHA:85167
Woolly Hair Nevus	Widely-spaced incisors, Heterochromia iridis, Enlarged vestibular aqueduct, Persistent pupillary ...	ORPHA:79414
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Hypoammonemia, Chorioretinal dysplasia, Micrognathia, Abn...	ORPHA:534
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Oral mucosal blisters, Depigmentation/hyperpigmentation of skin, Generalized ret...	ORPHA:79396
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Corneal opacity, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253010
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Gingival overgrowth	OMIM:221800
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Optic disc pallor, Cataract	OMIM:613730
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract, Elevated circulating creatine kinase concentration	OMIM:615704
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Cataract, Micrognathia, Abnormality of the dentition, Sensorineural hearing impairment, Thick low...	ORPHA:85321
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Micrognathia, Tremor, Hypsarrhythmia, Hypoproteinemia	OMIM:608093
Dyschondrosteosis-Nephritis Syndrome	Microdontia, Corneal opacity	ORPHA:1765
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Cataract	OMIM:612463
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Proteus-Like Syndrome	Mandibular prognathia, Retinal detachment, Cataract, Open bite, Abnormal pupil morphology, Limbal...	ORPHA:2969
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Harrod Syndrome	Cataract, Long nose, Dental malocclusion, Hypopigmented skin patches, Protruding ear, High palate...	ORPHA:2115
Renal Hypoplasia, Bilateral	Hyponatremia, Astigmatism, Hyperkalemia	ORPHA:97362
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Non-midline cleft lip, Cleft palate, Microcornea, Limbal dermoid, Sho...	ORPHA:1791
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Posteriorly rotated ears, Corneal o...	OMIM:608670
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Usher Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Cataract, Abnormal dental ename...	ORPHA:886
Spondylo-Ocular Syndrome	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Thin...	ORPHA:85194
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Focal Dermal Hypoplasia	Corneal opacity, Abnormal dental morphology, Abnormal dental enamel morphology, Ectopia lentis, O...	ORPHA:2092
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Marshall Syndrome	Retinal detachment, Cataract, Ectopia lentis, Micrognathia, Hypoplasia of the maxilla, Sensorineu...	ORPHA:560
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Albinism, Total intestinal agangliono...	OMIM:600501
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long philtrum	OMIM:615877
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Opacification of the corneal stroma	OMIM:252605
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Codas Syndrome	Delayed eruption of teeth, Cataract, Abnormal dental morphology, Abnormal dental enamel morpholog...	ORPHA:1458
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Mandibular prognathia, Cataract, Optic nerve hypoplasia, Microg...	OMIM:620155
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Mend Syndrome	Cataract, Abnormal auditory evoked potentials, Micrognathia, Asymmetry of the mouth, Elevated 8-d...	ORPHA:401973
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thin upper lip vermilion, Cataract, Sensorineural hearing impairment, Thick lower lip vermilion, ...	OMIM:220500
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Astigmatism, ...	ORPHA:2095
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Infantile Refsum Disease	Cataract, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Elevated circulating phy...	ORPHA:772
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Macular atrophy, Patchy atrophy of the retinal pigmen...	ORPHA:67042
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Cataract, Optic nerve hypoplasia, Micrognathia, ...	OMIM:222765
Gm1 Gangliosidosis	Mandibular prognathia, Generalized dystonia, Corneal opacity, Tremor, Narrow mouth, Optic atrophy...	ORPHA:354
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Gomez-Lopez-Hernandez Syndrome	Posteriorly rotated ears, Thin vermilion border, High palate, Low-set ears, Opacification of the ...	OMIM:601853
Craniolenticulosutural Dysplasia	Smooth philtrum, Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia ...	ORPHA:50814
Duane Retraction Syndrome	Central heterochromia, Micrognathia, External ear malformation, Abnormal pupil morphology, Sensor...	ORPHA:233
Retinitis Pigmentosa 2	Pigmentary retinopathy, Cataract, Chorioretinal degeneration	OMIM:312600
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Posteriorly rotated ears, Dental crowding, Cleft upper lip, Narrow mo...	OMIM:612582
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Unilateral Ocular Duplication	Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcornea, Iris coloboma	ORPHA:3374
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Micrognathia, Brushfield spots, Optic nerve dysplasia, Cleft palate, Pigmentary retinop...	OMIM:214110
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification ...	OMIM:252600
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Oculodentodigital Dysplasia	Mandibular prognathia, Cataract, Median cleft lip, Abnormal dental enamel morphology, Premature l...	ORPHA:2710
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Hypermelanotic macule, Hyperlipidemia, Abnormal primary molar morphology, Multip...	ORPHA:1830
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Keratitis, Carious teeth, Conjunctivitis, Enamel hypoplasia	OMIM:612843
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Dental malocclusion, Spherophakia, Anterior synechiae of ...	OMIM:601552
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Pursed lips, Dental crowding, Abnormal auditory evoked potentials, Whistli...	OMIM:193700
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Cataract, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel...	OMIM:612462
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Pseudo-Torch Syndrome 1	Microretrognathia, Cataract, Dystonia, Cleft lip, High palate, Low-set ears, Opacification of the...	OMIM:251290
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Retinal coloboma	OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma	ORPHA:363741
Al-Gazali Syndrome	Corneal opacity, Sclerocornea, Micrognathia	OMIM:609465
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Low-set ears	OMIM:612379
Cerebrooculofacioskeletal Syndrome 2	Cataract, Micrognathia, Hearing impairment, Developmental cataract	OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, C...	OMIM:615249
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Micrognathia, O...	ORPHA:2510
Hurler Syndrome	Corneal opacity, Wide nasal bridge, Gingival overgrowth, Macroglossia, Thick vermilion border, Op...	OMIM:607014
Warburg Micro Syndrome 3	Cataract, Micrognathia, Optic atrophy, Narrow palate, Developmental cataract, Microcornea, Downtu...	OMIM:614222
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Generalized dystonia, Sensorineural hearing impairment, Orofacial cleft, Macroglossia	ORPHA:79107
Fucosidosis	Abnormality of the dentition, Corneal opacity, Hearing impairment	ORPHA:349
Autoimmune Hypoparathyroidism	Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystoni...	ORPHA:36913
Trisomy 9P	Dental crowding, Abnormal pupil morphology, Non-midline cleft lip, Protruding ear, Downturned cor...	ORPHA:236
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Fryns Syndrome	Low-set, posteriorly rotated ears, Tented upper lip vermilion, Aganglionic megacolon, Corneal opa...	ORPHA:2059
Monilethrix	Cataract, Abnormality of the dentition	ORPHA:573
Galactokinase Deficiency	Cataract, Sensorineural hearing impairment, Increased level of galactitol in plasma, Nuclear cata...	ORPHA:79237
Cutis Laxa, Autosomal Dominant 3	Protruding ear, Corneal opacity, Low-set ears, Developmental cataract	OMIM:616603
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Increased cup-to-disc ratio, Temporal optic disc p...	ORPHA:98977
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, Optic nerve hypoplasia, Abnormal pa...	ORPHA:141099
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Short Syndrome	Delayed eruption of teeth, Rieger anomaly, Cataract, Micrognathia, Sensorineural hearing impairme...	OMIM:269880
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Sensorineural hearing impairment, Optic atrophy, E...	ORPHA:1493
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Hurler Syndrome	Corneal opacity, Wide nasal bridge, Abnormality of skin pigmentation, Macroglossia, Thick vermili...	ORPHA:93473
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cataract, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Narrow mouth, Neonatal death...	OMIM:224410
Peroxisome Biogenesis Disorder 9B	Sensorineural hearing impairment, Cataract, Elevated circulating phytanic acid concentration	OMIM:614879
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Retinal...	OMIM:175780
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Hurler-Scheie Syndrome	Thick vermilion border, Corneal opacity, Micrognathia	OMIM:607015
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Cataract, Abnormal dental morpholog...	ORPHA:568
Mucopolysaccharidosis Type 1	Sinusitis, Corneal opacity, Sensorineural hearing impairment, Thick lower lip vermilion, Optic at...	ORPHA:579
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Corneal opacity, Micrognathia, Hypoplasia of the maxilla, Sensorineura...	OMIM:601812
Autoimmune Polyendocrinopathy Type 1	Cataract, Hypopigmented skin patches, Opacification of the corneal stroma	ORPHA:3453
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Hypoalbuminemia	OMIM:618805
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Elevated circulating creatine kinase concentration, EEG with focal spike w...	ORPHA:370997
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Punctate cataract, Optic atro...	OMIM:607812
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Cataract, Posteriorly rotated ears, Facial palsy, Micrognathia, High, ...	ORPHA:2780
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom...	OMIM:256800
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Pigmentary retinopathy, Cataract, Elevated circulating creatine kinase concentration	ORPHA:79095
Multiple Sulfatase Deficiency	Corneal opacity, Retinal degeneration, Hearing impairment	OMIM:272200
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Corneal opacity, High, narrow palate, Sensorin...	ORPHA:488632
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
De Barsy Syndrome	Delayed eruption of teeth, Cataract, Corneal opacity, Small, conical teeth, Large earlobe, Atheto...	ORPHA:2962
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Chime Syndrome	Corneal opacity, Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, C...	ORPHA:3474
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Cataract, Corneal dystrophy, Gingival overgrowth	ORPHA:1839
Marshall Syndrome	Retinal detachment, Cataract, Malar flattening, Lens luxation, Micrognathia, Absent frontal sinus...	OMIM:154780
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Galloway-Mowat Syndrome 1	Cataract, Dystonia, Micrognathia, Optic atrophy, Hypoplasia of the iris, Wide mouth, Hypoalbumine...	OMIM:251300
3Mc Syndrome 3	Abnormal pinna morphology, Corneal opacity, Cleft upper lip, Cleft palate, Auricular pit, Hearing...	OMIM:248340
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr...	OMIM:616468
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea, Hearing impairment	ORPHA:77298
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Micr...	ORPHA:2556
Refsum Disease, Classic	Sensorineural hearing impairment, Cataract, Elevated circulating phytanic acid concentration, Ret...	OMIM:266500
Microphthalmia, Syndromic 5	Cataract, Optic nerve hypoplasia, Cleft palate, Microcornea, Coloboma	OMIM:610125
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Cataract, Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia	OMIM:103580
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Atresia of the external auditory canal, Opacification of the corneal stroma	OMIM:601356
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Peripheral opacification of the cornea, Corneal opacity, Hypermelanoti...	OMIM:259600
Ablepharon Macrostomia Syndrome	Corneal opacity, Hypoplasia of the maxilla, Corneal erosion, Abnormality of skin pigmentation, Wi...	ORPHA:920
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype...	ORPHA:94093
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Iris atrophy, Mixed hearing impairment, Cleft upper lip, Optic atrophy, Wi...	OMIM:201180
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Hearing impairment, Anterior lenticonus	OMIM:203780
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Iris hypopigmentation, Ocular albinism, High palate, Generalized hypopigmentation, Hear...	ORPHA:2720
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Posteriorly rotated ears, Sensorineural hearing impairment, Hypopla...	OMIM:222448
Pseudohypoparathyroidism Type 1B	Calcinosis, Delayed eruption of teeth, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia,...	ORPHA:94089
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Micrognathia, Diastema, Thick lower lip vermilion, Protr...	OMIM:620185
Peroxisome Biogenesis Disorder 10B	Cataract, Posteriorly rotated ears, Low-set ears	OMIM:617370
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Micrognathia, Optic atrophy, Orofacial cleft, Microcornea, Micro...	ORPHA:3301
3Q29 Microdeletion Syndrome	Cataract, Dental crowding, Abnormality of the dentition, Orofacial cleft, Abnormality of skin pig...	ORPHA:65286
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Micrognathia, Optic atrophy, Hypokalemia, High palate, Hypoca...	OMIM:617913
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai...	OMIM:268315
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Abnormality iris morphology, Cleft palate	ORPHA:250999
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio...	ORPHA:3240
Dahlberg-Borer-Newcomer Syndrome	Cataract, Hypocalcemia, Wide nasal bridge	ORPHA:1563
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Triploidy	Low-set, posteriorly rotated ears, Cataract, Micrognathia, Non-midline cleft lip, Cleft palate, W...	ORPHA:3376
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ...	ORPHA:425
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Cataract, Tremor, Wide nasal bridge, Hyperammonemia, Low-set ears, Long philtr...	OMIM:614052
Charcot-Marie-Tooth Disease Type 4B2	Tongue atrophy, Cataract, Decreased distal sensory nerve action potential, Tremor, Developmental ...	ORPHA:99956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Elevated circulating creatine kinase concentration, Micrognathia, Opti...	OMIM:253280
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l...	ORPHA:95409
Lathosterolosis	Cataract, Micrognathia, Gingival overgrowth, Microcornea, Downturned corners of mouth, High palat...	ORPHA:46059
Familial Exudative Vitreoretinopathy	Rhegmatogenous retinal detachment, Cataract, Chorioretinal atrophy, Abnormal optic disc morpholog...	ORPHA:891
Xeroderma Pigmentosum, Complementation Group B	Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, P...	OMIM:610651
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment	OMIM:256540
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Carpenter Syndrome 1	Abnormal pinna morphology, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,...	OMIM:201000
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Conductive hearing impairment...	ORPHA:861
Cerebrotendinous Xanthomatosis	Optic disc pallor, Resting tremor, Optic neuropathy, Abnormal auditory evoked potentials, Decreas...	ORPHA:909
Bosma Arhinia Microphthalmia Syndrome	Cataract, Abnormal pinna morphology, Paranasal sinus hypoplasia, Absent tragus, Cleft lip, Dental...	OMIM:603457
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Hyperpigmented streaks, Sclerocornea	OMIM:300952
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Late-Onset Isolated Acth Deficiency	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Vitiligo	ORPHA:199299
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Posteriorly rotated ears, Micrognathia, Brushfield spots, High, narr...	OMIM:214100
Warburg Micro Syndrome 2	Cataract, Asymmetry of the ears, Optic atrophy, Developmental cataract, Microcornea, Short nose, ...	OMIM:614225
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Hypermelanotic macule, Abnormal...	ORPHA:910
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Abnormality of the temporomandibular joint, Corneal opacity, O...	ORPHA:536471
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, Hy...	ORPHA:636
Hereditary Acrokeratotic Poikiloderma	Premature loss of primary teeth, Abnormality of the dentition, Open bite, Trismus, Hypopigmented ...	ORPHA:2907
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Mildly el...	ORPHA:79102
Premature Aging Syndrome, Okamoto Type	Cataract, Abnormal pinna morphology, Low-set ears	OMIM:601811
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior ...	ORPHA:79098
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level	ORPHA:427
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Chorioretinal atrophy, Wide nasal bridge, Hyperpigmented streak...	OMIM:600268
Lathosterolosis	Thick upper lip vermilion, Cataract, Micrognathia, Wide nasal bridge, Gingival overgrowth, Abnorm...	OMIM:607330
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Linear hyperpigmentation, Sclerocornea	OMIM:613001
Kindler Epidermolysis Bullosa	Corneal opacity, Abnormal dental enamel morphology, Premature loss of primary teeth, Carious teet...	ORPHA:2908
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices...	ORPHA:581
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Corneal opacity, Elevated circulating alpha-fetoprot...	OMIM:615273
Neuroocular Syndrome	Lens coloboma, Microcornea, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Ir...	OMIM:619539
Oculodentodigital Dysplasia	Cataract, Abnormal pinna morphology, Selective tooth agenesis, Cleft upper lip, Carious teeth, Pr...	OMIM:164200
Alagille Syndrome	Keratoconus, Corneal dystrophy, Micrognathia, Long nose, Abnormal pupil morphology, Protruding ea...	ORPHA:52
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Micrognathia, Cleft palate, Abnorma...	ORPHA:1052
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hyperpigmentation of the skin	ORPHA:90791
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract, Angular cheilitis	OMIM:619016
Mucopolysaccharidosis, Type Vii	Corneal opacity, Sensorineural hearing impairment, Gingival overgrowth, Macroglossia, Widely spac...	OMIM:253220
Frontorhiny	Low-set, posteriorly rotated ears, Cataract, Hypoplasia of the maxilla, Hypoplastic frontal sinus...	ORPHA:391474
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Cowden Syndrome 5	Cataract, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High pala...	OMIM:615108
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Mucopolysaccharidosis Type 6	Sinusitis, Thick lower lip vermilion, Macroglossia, Opacification of the corneal stroma, Hearing ...	ORPHA:583
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced teeth, Opacificat...	OMIM:253000
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Retinal detachment, Remnants of the hyaloid vascular system, Posterior...	OMIM:300166
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Se...	ORPHA:309282
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Persistence of primary teeth, Carious teeth, Developmental cataract, Retinal calcifi...	ORPHA:93325
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Oral mucosal blisters, Corneal scarring, Conjunctivitis, Narrow mouth, Enamel hypoplasia	OMIM:226600
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Sensor...	ORPHA:324
Farber Disease	Macular degeneration, Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corn...	ORPHA:333
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Abnormal cornea morph...	ORPHA:411629
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy	OMIM:616881
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Corneal arcus, Abnormal LDL cholesterol concentration	OMIM:603776
Oligoarticular Juvenile Idiopathic Arthritis	Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Elevated circulating creatine kinase concentration, Cleft upper lip, Cleft palate, Buph...	OMIM:613150
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Posterior...	ORPHA:637
Intermediate Uveitis	Anterior uveitis, Cataract, Macular scar, Band keratopathy, Posterior synechiae of the anterior c...	ORPHA:279914
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Cleft palate, Pigmentary retinopathy, Peters anomaly, Iris coloboma, Hear...	OMIM:309801
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond...	ORPHA:101085
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Posterior subcapsular cataract, Cataract, Optic atrophy	OMIM:300578
Congenital Tufting Enteropathy	Cataract, Corneal erosion, Optic disc coloboma, Orofacial cleft, Punctate keratitis	ORPHA:92050
Mucoepithelial Dysplasia, Hereditary	Cataract, Erythematous oral mucosa, Keratoconjunctivitis, Furrowed tongue, Opacification of the c...	OMIM:158310
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Micrognathia, Brushfield spots, Conjugated hyperbilirubinemia, Sensorineural hearing im...	OMIM:614866
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract, Abnormality of the dentition, Hyperlipidemia, High palate, Hyperpigmentation of the ski...	ORPHA:90153
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Decreased nerve ...	ORPHA:580
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Smith-Lemli-Opitz Syndrome	Sclerocornea, Micrognathia, Advanced eruption of teeth, Iris coloboma, Low-set, posteriorly rotat...	ORPHA:818
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Megalocornea, Bifid uvula, Supernu...	OMIM:211380
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Decreased nerve conduc...	OMIM:277900
Vici Syndrome	Everted upper lip vermilion, Cataract, Median cleft lip, Macular atrophy, Elevated circulating cr...	OMIM:242840
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, Micrognathia, EEG with burst suppr...	ORPHA:171929
Familial Glucocorticoid Deficiency	Hyponatremia, Generalized hyperpigmentation, Hyperkalemia	ORPHA:361
Hallermann-Streiff Syndrome	Natal tooth, Cataract, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary...	OMIM:234100
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Cataract, Posteriorly rotated ears, Cleft palate, Long philtrum, Microt...	OMIM:601353
Frontofacionasal Dysplasia	Cataract, Cleft upper lip, Orofacial cleft, Microcornea, Bifid uvula, Malar flattening, Short nos...	OMIM:229400
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Abnormal dental ...	ORPHA:217085
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Tangier Disease	Facial diplegia, Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia	ORPHA:31150
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Corneal dystrophy, Carious teeth, Gingivitis, Hearing impairment	ORPHA:3194
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Mosaic Trisomy 9	Corneal opacity, Micrognathia, Cleft palate, High palate, Low-set ears	ORPHA:99776
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Iridocyclitis, Keratoconjunctivitis, Pigmentary retinopathy, Tympanosclerosis, Enamel h...	OMIM:240300
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Sensorineural hearing impairment, Choreoathetosis, Keratoconjunctivitis sicc...	OMIM:278730
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Abnormal dental ...	ORPHA:217093
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Thin vermilion border, High palate, Retrognathia, Hear...	OMIM:619869
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Cataract, Underfolded helix, Micrognathia, Supe...	OMIM:268400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus	OMIM:144010
Addison Disease	Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l...	ORPHA:85138
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Micrognathia, Tented philtrum, Buphth...	ORPHA:495875
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Schimke Immunoosseous Dysplasia	Hypermelanotic macule, Wide nasal bridge, Astigmatism, Opacification of the corneal stroma, Micro...	OMIM:242900
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Microtia, second degree, Cataract, C...	ORPHA:709
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Hypoplasia of the maxilla, Microspherophak...	OMIM:608328
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Abnormality of the philtrum, Sclerocornea, Cleft upper lip, Mi...	ORPHA:280
Meckel Syndrome	Low-set, posteriorly rotated ears, Cataract, Abnormal chorioretinal morphology, Aplasia/Hypoplasi...	ORPHA:564
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Corneal opacity, Carious teeth, Macroglossia, Hearing impairment	OMIM:253200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Sensorineural hearing impair...	OMIM:206900
Van Den Ende-Gupta Syndrome	Posteriorly rotated ears, Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla,...	OMIM:600920
Hermansky-Pudlak Syndrome	Cataract, Partial albinism, Abnormal dental enamel morphology, Ocular albinism, Melanocytic nevus...	ORPHA:79430
Leiomyomatosis, Diffuse, With Alport Syndrome	High-frequency sensorineural hearing impairment, Cataract, Sensorineural hearing impairment, Ante...	OMIM:308940
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia, Hyperpigmentation of the skin	ORPHA:90790
Incontinentia Pigmenti	Delayed eruption of teeth, Retinal detachment, Cataract, Conical tooth, Keratitis, Optic atrophy,...	OMIM:308300
Wilson Disease	Kayser-Fleischer ring	ORPHA:905
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Abnormal circulating cholesterol conce...	ORPHA:168558
Larsen Syndrome	Corneal opacity, Cleft upper lip, Cleft palate, Hypodontia, Conductive hearing impairment, Malar ...	OMIM:150250
Histiocytoid Cardiomyopathy	Corneal opacity, Optic atrophy, Cleft palate, Megalocornea, Congenital aphakia	ORPHA:137675
Mirage Syndrome	Hyponatremia, Hyperkalemia	OMIM:617053
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Mosaic Trisomy 1	Microretrognathia, Abnormal pinna morphology, Thick lower lip vermilion, Wide nasal bridge, Orofa...	ORPHA:1692
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Alzahrani-Kuwahara Syndrome	Smooth philtrum, Optic disc pallor, Cataract, Posteriorly rotated ears, Micrognathia, Narrow phil...	OMIM:619268
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Abnormal circulating cholesterol conce...	ORPHA:289548
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Dyggve-Melchior-Clausen Disease	Corneal opacity, Hearing impairment	ORPHA:239
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Enamel hypomineralization, Bicarbonaturia, Coloboma, Hypokalemia	ORPHA:47159
Werner Syndrome	Cataract, Elevated hemoglobin A1c, Retinal degeneration, Hypertriglyceridemia	OMIM:277700
Williams Syndrome	Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Protruding ear, Microdo...	ORPHA:904
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia, Recurrent sinusitis, Vitiligo	ORPHA:293978
East Syndrome	Sensorineural hearing impairment, Hypokalemia, Increased circulating renin level, Hypomagnesemia,...	ORPHA:199343
Coats Disease	Exudative retinal detachment, Leukocoria	OMIM:300216
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Cockayne Syndrome	Lentiglobus, Retinal degeneration, Intention tremor, Retinal atrophy, Abnormal dental morphology,...	ORPHA:191
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Toot...	ORPHA:2250
Hutchinson-Gilford Progeria Syndrome	High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Corneal opacity, Hype...	ORPHA:740
Mednik Syndrome	Neonatal death, Sensorineural hearing impairment, Cataract, Increased circulating very long-chain...	OMIM:609313
Revesz Syndrome	Oral leukoplakia, Megalocornea, Fine, reticulate skin pigmentation, Leukocoria	OMIM:268130
Gaucher Disease	Corneal opacity, Elevated circulating C-reactive protein concentration, Tremor, Abnormality of sk...	ORPHA:355
Stuve-Wiedemann Syndrome 1	Pursed lips, Micrognathia, Carious teeth, Blotching pigmentation of the skin, Thin vermilion bord...	OMIM:601559
Kindler Syndrome	Symblepharon, Carious teeth, Corneal erosion, Spotty hypopigmentation, Gingivitis, Periodontitis,...	OMIM:173650
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Iris coloboma	ORPHA:2396
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, High palate...	ORPHA:79330
Limb Body Wall Complex	Corneal opacity, Cleft lip, Wide nasal bridge, Cleft palate, Lens subluxation, Iris coloboma	ORPHA:2369
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Lip telangiectasia, Thick vermilion border, Opacification of t...	ORPHA:79280
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Corneal crystals	OMIM:219900
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Cataract	OMIM:268100
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Optic nerve hypoplasia, Congenital sensorineural hearing impairment, Aniso...	ORPHA:45358
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Corneal opacity, Protruding ear, Astigmatism	ORPHA:464311
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr...	ORPHA:67036
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Uveitis, Glossoptosis, Advanced eruption of teeth, Abnor...	ORPHA:828
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity, Abnormal pupil morphology, Sensorineural hearing impairment,...	ORPHA:90658
Pearson Syndrome	Cataract, Median cleft lip and palate, Hypophosphatemia, Corneal stromal edema, Pigmentary retino...	ORPHA:699
Fraser Syndrome 1	Corneal opacity, Abnormal pinna morphology, Dental crowding, Cleft upper lip, Cupped ear, Dental ...	OMIM:219000
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Neonatal Marfan Syndrome	Iridodonesis, Ectopia lentis, Micrognathia, High, narrow palate, Wide nasal bridge, Low-set ears,...	ORPHA:284979
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Cle...	OMIM:268300
Ciliary Dyskinesia, Primary, 1	Conductive hearing impairment, Abnormal cornea morphology, Chronic sinusitis, Absent frontal sinuses	OMIM:244400
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Tongue atrophy, Sensorineural hearing impairment, Opti...	ORPHA:99949
Liddle Syndrome	Hypokalemia	ORPHA:526
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Sensorineural hearing impairment, Optic atrophy, Head tremor	ORPHA:314404
Multiple System Atrophy 1, Susceptibility To	Tremor, Iris atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Ethylene Glycol Poisoning	Facial palsy, Hyperkalemia, Hypocalcemia	ORPHA:31826
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Collagenoma, Familial Cutaneous	Iris atrophy, Sensorineural hearing impairment	OMIM:115250
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Bilateral sensorineural hearing impairment	OMIM:602722
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Corneal opacity, Protruding ear, Astigmatism, Macrotia	ORPHA:464306
Monosomy 13Q14	Cataract, Micrognathia, Wide nasal bridge, Protruding ear, Low-set ears, Thickened helices, Iris ...	ORPHA:1587
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Deep philtrum	ORPHA:289483
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	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	Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Cataract, Dental c...	OMIM:300990
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Submucous cleft hard palate, ...	OMIM:157170
Osteogenesis Imperfecta	Delayed eruption of teeth, Mixed hearing impairment, Abnormality of dental color, Corneal opacity...	ORPHA:666
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Papilledema, ...	ORPHA:91500
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Miller Fisher Syndrome	Anisocoria, EEG with generalized slow activity, Facial palsy, Mydriasis	ORPHA:98919
Wiedemann-Rautenstrauch Syndrome	Tremor, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Low-set ears, Narro...	ORPHA:3455
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia	OMIM:613239
Facial Spasm	Anisocoria	OMIM:134300
Cystinosis, Nephropathic	Hyponatremia, Hypomagnesemia, Retinal pigment epithelial mottling, Reduced blood urea nitrogen, H...	OMIM:219800
Blau Syndrome	Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis, Abnormal cranial nerve mor...	OMIM:186580
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal salivary glan...	ORPHA:2363
Trichinellosis	Facial palsy, Trismus, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea morphology, ...	ORPHA:863
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Micrognathia, Cleft palate, Malar flattening	OMIM:274000
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Micrognathia, Gingival overgrowth, Wide mouth, Macroglossia,...	OMIM:252500
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Cataract, Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ...	OMIM:181270
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Romano-Ward Syndrome	Hypokalemia, Abnormal autonomic nervous system physiology, Hearing impairment	ORPHA:101016
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow...	ORPHA:769
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft upper lip, Wide nasal brid...	OMIM:603671
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cupped ear, Cleft palate, Popliteal pte...	OMIM:263650
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Cataract, Hypoplasia of the maxilla, Wide nasal bridge, Cleft ...	ORPHA:306542
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Aganglionic megacolon, Abnormal dental enamel morphology, Keratitis, Corneal ero...	ORPHA:2273
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Microphthalmia, Syndromic 6	Posteriorly rotated ears, Uplifted earlobe, Sclerocornea, Micrognathia, Retrognathia, Cleft palat...	OMIM:607932
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat...	OMIM:267750
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Cataract, Underdeveloped antitragus, Abnormality of the dentition, Abn...	ORPHA:2036
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia	ORPHA:275761
Familial Hyperaldosteronism Type I	Hypokalemia, Tinnitus	ORPHA:403
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Hypoplasia of the nasal bone	OMIM:118650
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Yunis-Varon Syndrome	Cataract, Abnormal pinna morphology, Sclerocornea, Micrognathia, Premature loss of primary teeth,...	ORPHA:3472
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Tinnitus, Decreased circulating renin level	ORPHA:231632
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Sensorineural hearing impairment, Hyperkalemia, Everted lower lip v...	ORPHA:293987
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Athetosis, Hypokalemia, Tinnitus	ORPHA:369929
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Micrognathia, Leukocoria, Orofacial cleft, Multiple cafe-au-lait spots	ORPHA:1556
Familial Hyperaldosteronism Type Ii	Hypokalemia, Tinnitus	ORPHA:404
Mercury Poisoning	Tremor, Hypokalemia, Dystonia	ORPHA:330021
Fryns Syndrome	Microretrognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Wide nasal...	OMIM:229850
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Sensorineural hearing impairment, Hypokalemia, Increased circulating renin level, Hypomagnesemia,...	OMIM:612780
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Tinnitus, Decreased circulating renin level	ORPHA:231580
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Retrognathia, Abnormality iris morphology	ORPHA:91387
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Athetosis, Hypokalemia, Decreased circulating renin level	OMIM:615474
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Tinnitus, Decreased circulating renin level	ORPHA:231625
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Familial Hyperaldosteronism Type Iii	Hypokalemia, Tinnitus	ORPHA:251274
Mowat-Wilson Syndrome	Delayed eruption of teeth, Cataract, Aganglionic megacolon, Uplifted earlobe, Cupped ear, Submuco...	OMIM:235730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Retinal dysplasia, Optic nerve dysplasia, Elevated circulating creatine kinase concentration, Opa...	OMIM:615287
Autosomal Dominant Cutis Laxa	Protruding ear, Corneal opacity, Low-set ears, Developmental cataract	ORPHA:90348
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Sensorineural hearing impairment, Corneal opacity	ORPHA:2072
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Neurooculorenal Syndrome	Iris atrophy, Mixed hearing impairment, Micrognathia, Conjugated hyperbilirubinemia, Sensorineura...	OMIM:620305
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Scorpion Envenomation	Increased circulating NT-proBNP concentration, Tremor, Hypokalemia, Increased circulating creatin...	ORPHA:466677
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level, Abnormal choroid morphology	OMIM:607364
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Digeorge Syndrome	Sclerocornea, Micrognathia, High, narrow palate, Cleft palate, High palate, Hypocalcemia, Low-set...	OMIM:188400
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia	OMIM:613090
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Iris atrophy, Cataract, Absent anterior chamber of the eye	OMIM:259770
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Hyperpigmentation of the skin, Decreased circulating renin level	ORPHA:90795
Nelson Syndrome	Abnormality of the sphenoid sinus, Hypokalemia, Optic nerve compression, Generalized hyperpigment...	ORPHA:199244
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating renin level, Hyperkalemia, Low-set ears, Conductive hearing i...	OMIM:201750
Vascular Ehlers-Danlos Syndrome	Keratoconus, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, ...	ORPHA:286
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Abnormal pupil morph...	ORPHA:261552
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Osteootohepatoenteric Syndrome	Hypokalemia, Increased serum bile acid concentration, Hearing impairment	OMIM:619377
Retinoblastoma	Retinal calcification, Leukocoria, 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	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Bartter Syndrome Type 4	Hyponatremia, Protruding ear, Hypochloremia, Hypokalemia, Increased circulating renin level, Bila...	ORPHA:89938
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia	OMIM:219090
Yunis-Varon Syndrome	Thin upper lip vermilion, Cataract, Sclerocornea, Micrognathia, Premature loss of primary teeth, ...	OMIM:216340
Adrenocortical Carcinoma	Hypokalemia	ORPHA:1501
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia	OMIM:602522
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Keratitis, Cleft palate, Opacification of the corneal stroma, Recurrent co...	OMIM:308205
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Gitelman Syndrome	Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Tinnitus	ORPHA:358
Immunodeficiency 87 And Autoimmunity	Cleft palate, Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentr...	OMIM:619573
Distal Renal Tubular Acidosis	Hypokalemia, Enlarged vestibular aqueduct, Sensorineural hearing impairment	ORPHA:18
Leprechaunism	Protruding ear, Hypokalemia, Thick vermilion border, Increased circulating renin level, Low-set ears	ORPHA:508
Tsh-Secreting Pituitary Adenoma	Tremor, Hypokalemia	ORPHA:91347
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	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

X-ray

X-ray

X-ray

Eye Morphology

Anti-nuclear antibody assay

Eye Morphology

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 20.1 Data