Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

LIM homeobox transcription factor 1 beta
LMX1.2,  Icst,  GENA 191

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Lmx1b 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.

The table below shows human diseases predicted to be associated to Lmx1b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Microphthalmia, B... OMIM:212550
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Glaucoma, Increased cup-to-disc ratio, Ocular hypertension OMIM:617272
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Microphthalmia, Anterior synechiae of the anterior chamber, Hypoplasia o... OMIM:604229
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Abnormal Descemet membrane morphology, Anterior synechiae of the a... ORPHA:98973
Glaucoma, Primary Closed-Angle
Angle closure glaucoma, Anterior synechiae of the anterior chamber, Ocular hypertension, Increase... OMIM:618880
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Microspherophakia, Glaucoma, Deep anteri... OMIM:251750
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Iris coloboma, Flat cornea, Increased axial length of the globe, Shallow anterio... OMIM:602499
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Descemet Membrane Folds, Open angle glaucoma, Herpetiform corneal ulceration... ORPHA:137599
Norrie Disease
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Microphthalmia, Hypoplasia of the iris,... OMIM:310600
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... OMIM:136800
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal dystrophy, Corneal stromal edema, Abnormal Descemet membrane morphology,... OMIM:613270
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... ORPHA:2334
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... ORPHA:98964
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Sha... OMIM:221900
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Neovascular Glaucoma
Abnormal uvea morphology, Retinal vascular proliferation, Retinal detachment, Abnormal anterior c... ORPHA:94058
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Microphthalmia, Isolated 6
Retinal fold, Ocular hypertension, Microcornea, Microphthalmia OMIM:613517
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Anophthalmia OMIM:616428
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Vitreoretinal Degeneration, Snowflake Type
Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina... OMIM:193230
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Corneal opacity, ... ORPHA:98974
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... OMIM:217700
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Corneal scarring, Cornea verticilla... ORPHA:171673
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... ORPHA:293603
Cherry red spot of the macula, Corneal opacity ORPHA:351
Persistent Hyperplastic Primary Vitreous
Cataract, Angle closure glaucoma, Tractional retinal detachment, Microphthalmia, Buphthalmos, Per... ORPHA:91495
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Recurrent corneal erosions, Corneal scarring, Keratoconjunctivit... ORPHA:293381
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Inguinal hernia, Corneal guttata, Corneal dystrophy, Keratoconus OMIM:609141
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Cataract 50 With Or Without Glaucoma
Cataract, Glaucoma, Retinal detachment, Persistent pupillary membrane OMIM:620253
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... OMIM:217800
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... ORPHA:93320
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Neurotrophic Keratopathy
Corneal perforation, Corneal ulceration, Abnormal fifth cranial nerve morphology, Recurrent corne... ORPHA:137596
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Retinal detachment, Microphthalmia, Posterior embryotoxon, Glaucoma, Cho... ORPHA:1473
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Iris coloboma, Hypoplastic acetabulae, Hypoplastic ... OMIM:169550
Vernal Keratoconjunctivitis
Punctate keratitis, Abnormal conjunctiva morphology, Abnormal cornea morphology, Scarring, Cornea... ORPHA:70476
Fibrochondrogenesis 1
Long clavicles, Posterior vertebral hypoplasia, Rhizomelia, Thin ribs, Broad long bones, Posterio... OMIM:228520
Dermoids Of Cornea
Corneal opacity OMIM:304730
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia... OMIM:610256
Glaucoma 3, Primary Congenital, A
Ocular hypertension, Buphthalmos, Late onset congenital glaucoma OMIM:231300
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy ORPHA:293621
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis, Increased axial length of the globe OMIM:110150
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Hypoplastic radial head, Iliac horns, Microphaki... OMIM:161200
Birdshot Chorioretinopathy
Cataract, Vitreous floaters, Ocular hypertension, Abnormal retinal vascular morphology, Epiretina... ORPHA:179
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Microphthalmia, Ocular hypertension, Peters anomaly, Ocular anterior segment dysge... OMIM:610023
Phacoanaphylactic Uveitis
Vitreoretinopathy, Abnormal corneal endothelium morphology, Tractional retinal detachment, Ocular... ORPHA:209959
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Glaucoma, Posterior embryot... OMIM:601631
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Unilateral micropht... ORPHA:137902
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Optic atrophy OMIM:620086
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Madelung deformi... ORPHA:240
Corneal Dystrophy, Congenital Stromal
Corneal erosion, Corneal dystrophy, Glaucoma, Increased corneal thickness, Band-shaped corneal dy... OMIM:610048
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... OMIM:610202
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Decreased number of small peripheral myelinated nerve fibers, Recu... OMIM:256800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar dysplasia, Hydrocephalus, Cardiomyopathy, Microphthalmia, Facial palsy, Abnormal left ... OMIM:613155
Aniridia 1
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Retinal vascular tortuosity, Ectopia lentis,... OMIM:106210
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... ORPHA:98960
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Developmental cataract, Developmental glaucoma OMIM:147630
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Glaucoma, Posterior synechi... OMIM:613195
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the pons, Cerebellar cyst, Microphth... OMIM:615181
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal intraocular pressure, Abnormal anterior ... ORPHA:209956
Non Rare In Europe: Idiopathic Anterior Uveitis
Glaucoma, Posterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Nuclear catar... ORPHA:280914
Morquio Syndrome C
Corneal opacity OMIM:252300
Intermediate Uveitis
Cataract, Vitreous floaters, Vasculitis, Optic neuritis, Vitreous snowballs, Tubulointerstitial n... ORPHA:279914
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Nail-Patella Syndrome
Talipes calcaneovalgus, Iliac horns, Abnormal iris pigmentation, Patellar dislocation, Achilles t... ORPHA:2614
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Glaucoma, Ocular hypertension, Microcoria OMIM:156600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Partial agenesis of the corpus callosum, Hypoplasia of the pons, Optic disc pallor, Mic... OMIM:616171
Stickler Syndrome Type 2
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy ORPHA:90654
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Microphakia, Phthisis bulbi, Ocular hypertension, Rod-cone dystrophy, Oc... OMIM:612109
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... OMIM:309300
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Winchester Syndrome
Corneal opacity OMIM:277950
Cousin Syndrome
Long clavicles, Rhizomelia, Fibular aplasia, Facial hirsutism, Joint contracture of the hand, Hyd... OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Agenesis of cerebellar vermis, Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the p... OMIM:613153
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Epithelial Recurrent Erosion Dystrophy
Corneal erosion OMIM:122400
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Per... ORPHA:101082
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Retinal dystrophy ORPHA:370997
Holt-Oram Syndrome
Aplasia of the ulna, Short humerus, Limited elbow extension, Pectus excavatum, Aplasia of the pec... OMIM:142900
Tetralogy Of Fallot And Glaucoma
Developmental glaucoma OMIM:187501
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Death in early adulthood, Hypoplastic scapulae, Dysphagia, Micromelia, Femoral retrover... ORPHA:79107
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Microphthalmia, Buphthalmos, Glaucoma, Retinal dystrophy OMIM:616538
Autosomal Recessive Spastic Paraplegia Type 25
Developmental cataract, Abnormality of peripheral nerve conduction, Developmental glaucoma ORPHA:101005
Juvenile Glaucoma
Open angle glaucoma, Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Ab... ORPHA:98977
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal brainstem morphology, Abnormal cerebellum morphology, Corneal opacity, Ce... ORPHA:1532
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Horseshoe kidney, Patellar dislocation, Carpal synostosis, Fibular ... OMIM:274000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Death in infancy, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Congenita... OMIM:613150
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Idiopathic Panuveitis
Cataract, Vitreous floaters, Vitreous snowballs, Epiretinal membrane, Cystoid macular edema, Conj... ORPHA:280921
Cataract 9, Multiple Types
Cataract, Iris coloboma, Microphthalmia, Glaucoma, Developmental cataract, Progressive cataract, ... OMIM:604219
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Long clavicles, Fifth finger distal phalanx clinodactyly, Aplasia/Hypopl... ORPHA:2839
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Buphthalmos, Glaucoma, Developmental glaucoma, Myelin outfoldings, Optic atrophy, Decre... ORPHA:99956
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... ORPHA:364055
Dystonia, Juvenile-Onset
Cataract, Pseudobulbar paralysis, Hypoplastic scapulae, Dysphagia, Femoral retroversion OMIM:607371
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris hypopigmentation, Iris coloboma ORPHA:3214
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Distal Deletion 6P
Ectopia pupillae, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechia... ORPHA:96125
Brittle Cornea Syndrome
Camptodactyly, Pulmonic stenosis, Keratoglobus, Corneal erosion, Corneal scarring, Retinal detach... ORPHA:90354
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Corneal ulceration, Recurrent corneal erosions, Corneal scarring, Keratoconjunctivitis sicca, Kne... OMIM:148210
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar aplasia, Wide capital femoral epiphyses, Patellar hypoplasia, Patellar dislocation, Shor... OMIM:147891
Weill-Marchesani Syndrome 3
Ectopia lentis, Pulmonic stenosis, Microspherophakia, Shallow anterior chamber, Aortic valve sten... OMIM:614819
Atopic Keratoconjunctivitis
Chemosis, Keratoconjunctivitis sicca, Corneal opacity, Keratitis, Corneal neovascularization ORPHA:163934
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy OMIM:616722
Dyggve-Melchior-Clausen Disease
Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,... OMIM:223800
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Cataract, Phakodonesis, Ectopia lentis, Iris atrophy, Spontaneous conjunctival filtering bleb, Mi... OMIM:601552
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Lissencephaly 8
Cataract, Retrocerebellar cyst, Occipital encephalocele, Microphthalmia, Hypoplasia of the brains... OMIM:617255
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Uveal Melanoma
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Retinal detachment, Vitreous h... ORPHA:39044
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Herpetiform corneal ulceration OMIM:276600
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Deat... OMIM:200700
Coxopodopatellar Syndrome
Hip dysplasia, Abnormality of the knee, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Micropenis, Death in infancy, Corneal opacity, Dilated cardiomyopathy, Hypertrophic ... OMIM:618815
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Microphthalmia, Corneal arcus, Sclerocornea, Corneal opacity, Flat c... OMIM:217300
Recurrent corneal erosions OMIM:148800
Agel Amyloidosis
Cataract, Proteinuria, Corneal ulceration, Stage 5 chronic kidney disease, Arrhythmia, Cardiomyop... ORPHA:85448
Schneckenbecken Dysplasia
Thoracic hypoplasia, Lateral clavicle hook, Bilateral talipes equinovarus, Limb undergrowth, Flat... OMIM:269250
Pierson Syndrome
Cataract, Retinal hemorrhage, Hypoplasia of the ciliary body, Hypertension, Microcoria, Microphth... OMIM:609049
Roberts Syndrome
Polycystic kidney dysplasia, Proximal placement of thumb, Abnormality of the upper limb, Sparse h... ORPHA:3103
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Hydrocephalus, Megalocornea, Olivopontocerebellar hypoplasia, Cardiomyopathy, Hypoplasi... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Retinal atrophy, Megalocornea, Retinal detachment, Optic nerve hypoplasia, Buphthalmos,... OMIM:236670
Thanatophoric Dysplasia, Type Ii
Hypoplastic ilia, Short greater sciatic notch, Short ribs, Neonatal death, Micromelia, Metaphysea... OMIM:187601
Anterior Segment Dysgenesis 1
Opacification of the corneal stroma, Ocular hypertension, Posterior polar cataract, Microcornea, ... OMIM:107250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Microphthalmia, Retinal degeneration, Flexion contracture OMIM:615249
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Corneal ulceration, Recurrent corneal erosions, Hypertension, Decrease... OMIM:223900
Microphthalmia, Isolated, With Coloboma 5
Bilateral microphthalmos, Iris coloboma, Holoprosencephaly, Microphthalmia, Chorioretinal colobom... OMIM:611638
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Thin ribs, Narrow foot, Joint contracture of the hand, Camptodactyly... OMIM:600920
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Opacification of the corneal stroma, Corneal opacity, Corneal dystrophy OMIM:608470
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiretinal membrane, Keratitis, Opacification of the corneal stroma OMIM:148200
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Optic nerve aplasia, Morning glory anomaly, Microphthalmia, Chorioretinal ... OMIM:120200
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... OMIM:225200
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Microphthalmia, Cerebellar malformation, Developmental ca... ORPHA:324416
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Optic atrophy, Corneal dystrophy ORPHA:2572
Xfe Progeroid Syndrome
Proteinuria, Death in adolescence, Corneal scarring, Hypertension, Absence of subcutaneous fat, E... OMIM:610965
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Optic nerve misrouting, Microphthalmia, Foveal hyperpigment... OMIM:609218
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Short metacarpal, Patellar hypoplasia, Mesomelia, Clino... OMIM:617604
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Hydrocephalus, Abnormal auditory evoked potentials, Agenes... OMIM:109120
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Long clavicles, Proximal femoral epiphysiolysis, Radial bowing, S... OMIM:210720
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Genu varum, Short thorax, Metaphyseal cupping, Hypoplastic scapul... ORPHA:85166
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Telangiectasia, Keratitis, ... OMIM:278730
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... ORPHA:67042
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Subepithelial corneal opacities, Abnormal corneal epithelium morpholog... ORPHA:98962
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Retinal detachment, Buphthalmos, Nephrolithiasis, Primary congenital glaucoma, Rieger anomaly ORPHA:521445
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Corneal scarring, Enamel hypoplasia, Flexion contracture, Atrophic scars, Conjunctivitis OMIM:226600
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Broad femoral neck, Short femoral neck, Irregular patellae, Epip... OMIM:609325
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Cleidocranial Dysplasia
Dystrophic toenail, Brachydactyly, Coxa vara, Down-sloping shoulders, Large fontanelles, Hypoplas... ORPHA:1452
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Alexander Disease
Death in childhood, Death in infancy, Death in adolescence, Microcoria OMIM:203450
Meier-Gorlin Syndrome 1
Small anterior fontanelle, Thin ribs, Aplasia/Hypoplasia of the patella, Cutaneous finger syndact... OMIM:224690
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal macular morphology, Iris hypopigmentation, Astigmatism, Abnorma... ORPHA:54
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Microphthalmia, Hypoplasia of the iris, Sclerocornea, Cerebellar hypoplasia, Agene... OMIM:613001
Ring Dermoid Of Cornea
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... OMIM:180550
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Type E brachydactyly, Cataract, Limited elbow extension, Hip dysplasia, Abnormal hip joint morpho... ORPHA:1856
Corneal Dystrophy, Meesmann, 2
Recurrent corneal erosions OMIM:618767
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Aniridia, Developmental glaucoma OMIM:206750
Khan-Khan-Katsanis Syndrome
Hydronephrosis, Renal cyst, Corneal scarring, Pigmentary retinopathy, Buphthalmos, Tricuspid regu... OMIM:618460
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Short distal phalanx of finger, Polydactyly, Micromelia, Sparse hair... OMIM:614091
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture OMIM:160565
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Coats Disease
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... ORPHA:190
Phocomelia, Schinzel Type
Aplasia of the ulna, Foot oligodactyly, Aplasia/Hypoplasia of the sacrum, Aplasia/Hypoplasia invo... ORPHA:2879
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Glaucoma, Posterior synechiae of the anterior chamber, ... OMIM:602482
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Mosaic Trisomy 8
Deep plantar creases, Patellar aplasia, Camptodactyly of finger, Hydronephrosis, Deep palmar crea... ORPHA:96061
Pelviscapular Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Abnormality of the joint spaces of the elbow, Low p... ORPHA:93333
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Progressive cataract OMIM:246000
Wagner Vitreoretinopathy
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... OMIM:143200
9Q33.3Q34.11 Microdeletion Syndrome
Single transverse palmar crease, Patellar aplasia, Prominent metopic ridge, Bilateral coxa valga,... ORPHA:495818
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Opacification of the corneal stroma, Retinal degeneration OMIM:252650
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... OMIM:135750
Aniridia And Absent Patella
Cataract, Aplasia/Hypoplasia of the patella, Aniridia OMIM:106220
Thanatophoric Dysplasia, Type I
Thoracic hypoplasia, Hypoplastic ilia, Short greater sciatic notch, Short ribs, Neonatal death, S... OMIM:187600
Smith-Mccort Dysplasia 1
Genu varum, Multicentric femoral head ossification, Hypoplastic scapulae, Short metacarpal, Hypop... OMIM:607326
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Elbow ankylosis, Aplasia/Hypoplasia of metatarsal bon... OMIM:276820
Achondrogenesis, Type Ia
Micromelia, Hypoplasia of the radius, Bowing of the legs, Abnormal foot bone ossification, Hypopl... OMIM:200600
Scheie Syndrome
Aortic regurgitation, Retinal degeneration, Glaucoma, Aortic valve stenosis, Corneal opacity OMIM:607016
Microphthalmia, Syndromic 16
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Short humerus, Hip dislocation, Rhizomelia, Dislocated radial head, Hypoplastic scapulae, Microgn... OMIM:602471
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Multiple Pterygium Syndrome, Escobar Variant
Hip dislocation, Talipes calcaneovalgus, Long clavicles, Hypoplastic nipples, Rocker bottom foot,... OMIM:265000
2Q24 Microdeletion Syndrome
Cataract, Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Lo... ORPHA:1617
Lymphedema-Distichiasis Syndrome
Corneal ulceration, Recurrent corneal erosions, Arrhythmia, Microphthalmia, Cellulitis, Conjuncti... OMIM:153400
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Mucolipidosis Ii Alpha/Beta
Death in childhood, Premature anterior fontanel closure, Mucopolysacchariduria, Hip dislocation, ... OMIM:252500
Short Rib-Polydactyly Syndrome
Polycystic kidney dysplasia, Abnormal long bone morphology, Polydactyly, Short tibia, Micromelia,... ORPHA:1505
Ulnar-Mammary Syndrome
Hypoplastic nipples, Short 5th finger, Hypoplasia of the radius, Short 5th toe, Aplasia of the 4t... OMIM:181450
Autoinflammation With Arthritis And Dyskeratosis
Uveitis, Keratoconjunctivitis sicca, Corneal neovascularization, Punctate keratitis OMIM:617388
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Hematuria OMIM:120433
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Short rib... ORPHA:2021
Coach Syndrome 2
Hydrocephalus, Hypertension, Chorioretinal coloboma, Molar tooth sign on MRI, Agenesis of corpus ... OMIM:619111
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Corneal scarring, Urethral stricture OMIM:301220
Cockayne Syndrome Type 3
Urinary retention, Retinal atrophy, Hydroureter, Cardiomyopathy, Keratoconjunctivitis sicca, Reti... ORPHA:90324
Alport Syndrome
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Recurrent corneal erosions, M... ORPHA:63
Joubert Syndrome 9
Cataract, Astigmatism, Encephalocele, Molar tooth sign on MRI OMIM:612285
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Axillary pterygium, Micrognathia, Microphthalmia, Absent distal phalanges... OMIM:619339
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Abnormality of the lower limb,... ORPHA:2141
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Blue irides, Micropenis, Thoracic kyphosis, Frontal balding, Pes cavus, Early balding, Patellar h... ORPHA:3041
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Abnormality of cranial sutures, Thoracic kyphosis, Oligosacchariduria, Flattened epiphy... ORPHA:163649
Gillespie Syndrome
Cerebellar atrophy, Hypoplasia of the iris, Aniridia, Cerebellar hypoplasia OMIM:206700
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Short femur, M... ORPHA:440354
Camptodactyly Syndrome, Guadalajara Type 2
Camptodactyly of finger, Pectus excavatum, Hip dislocation, Patellar hypoplasia, Short 2nd toe, S... ORPHA:1326
Baller-Gerold Syndrome
Oligodactyly, Bicoronal synostosis, Aplasia of metacarpal bones, Aphalangy of the hands, Optic ne... OMIM:218600
Duane-Radial Ray Syndrome
Short thumb, Optic disc hypoplasia, Horseshoe kidney, Aplasia of metacarpal bones, Shoulder dislo... OMIM:607323
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Proximal placement of thumb, Horseshoe kidney, Short metatarsal, Undulate ribs, ... OMIM:609945
Ramos-Arroyo Syndrome
Corneal ulceration, Abnormal autonomic nervous system physiology, Aganglionic megacolon, Absent r... ORPHA:1051
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ectopia pupillae, Peripapillary atrophy, Hypopigmentation of the fundus, Polycoria, Cerebral hemo... OMIM:175780
Hec Syndrome
Abnormal retinal vascular morphology, Arrhythmia, Abnormal pupil morphology, Cardiomyopathy, Deve... ORPHA:2119
Aniridia-Absent Patella Syndrome
Cataract, Aplasia/Hypoplasia of the patella, Aniridia ORPHA:1069
Roberts-Sc Phocomelia Syndrome
Polycystic kidney dysplasia, Horseshoe kidney, Sparse hair, Talipes equinovalgus, Brachydactyly, ... OMIM:268300
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Recurrent corneal erosions, Corneal ... ORPHA:98963
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Aniridia, Corneal opacity, Developmental glaucoma ORPHA:1064
Rothmund-Thomson Syndrome Type 1
Patellar aplasia, Metaphyseal sclerosis, Genu varum, Plantar hyperkeratosis, Metaphyseal striatio... ORPHA:221008
Goldberg-Shprintzen Syndrome
Corneal ulceration, Megalocornea, Corneal erosion, Aganglionic megacolon, Aortic regurgitation, V... OMIM:609460
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Renal cyst, Umbilical hernia, Hiatus hernia, Buphthalmos, Portal hyp... OMIM:610199
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:601706
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Partial agenesis of the corpus callosum, Microphthalmia, Hypoplasia of the brainstem, Dilated fou... OMIM:615771
Edict Syndrome
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea OMIM:614303
Genitopatellar Syndrome
Hydronephrosis, Patellar aplasia, Hypoplastic ilia, Fine hair, Knee flexion contracture, Hypoplas... ORPHA:85201
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Astigmatism, Retinal detachment, Optic atrophy, Microphthalmia... OMIM:152950
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:300915
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short 5th finger, Aplasia/Hypoplasia of... ORPHA:52056
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Joint contracture, Glaucoma, Buphthalmos OMIM:618005
Mucolipidosis Type Iii
Inguinal hernia, Corneal opacity ORPHA:577
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Absent... OMIM:119100
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... ORPHA:988
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Absent radius, Genu varum, Phocomelia, Horseshoe kidney, Coxa valga, Finger synd... ORPHA:3320
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Metaphyseal irregularity, Bowing of the legs, Short phalanx of finger, Brachydactyly,... ORPHA:85167
Meier-Gorlin Syndrome 3
Patellar aplasia, Micropenis, Genu varum, Short thorax, Breast hypoplasia, Short ribs, Sparse axi... OMIM:613803
Campomelic Dysplasia
Shortening of all phalanges of the toes, Hip dislocation, Thin ribs, Shortening of all phalanges ... OMIM:114290
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Optic atrophy, Abnormally large globe, Abnormal lens morphology ORPHA:363417
Rothmund-Thomson Syndrome Type 2
Synostosis involving bones of the upper limbs, Patellar aplasia, Aplasia/hypoplasia involving bon... ORPHA:221016
Mietens Syndrome
Cataract, Elbow ankylosis, Abnormality of fibula morphology, Hip dislocation, Hip dysplasia, Avas... ORPHA:2557
Penoscrotal Transposition
Patellar aplasia, Penoscrotal transposition, Abnormality of the ureter, Abnormality of the urethr... ORPHA:2842
Congenital Microcoria
Open angle glaucoma, Iris hypopigmentation, Megalocornea, Astigmatism, Hypoplastic iris stroma, I... ORPHA:566
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Bartsocas-Papas Syndrome 1
Oligodactyly, Short thumb, Absent eyelashes, Popliteal pterygium, Short phalanx of finger, Sparse... OMIM:263650
Short Syndrome
Lipodystrophy, Inguinal hernia, Megalocornea, Abnormal pupil morphology, Abnormal anterior chambe... ORPHA:3163
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Abnormal pupil morphology, Prolonged QT interval, Aganglionic megacolon ORPHA:2151
Kuskokwim Syndrome
Talipes, Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of t... ORPHA:1149
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Neonatal death OMIM:276822
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism, Macular degeneration, Enamel hypoplasia, Re... OMIM:270200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Megalocornea, Microphthalmia, Retinal degeneration, Buphthalmos, Glauc... OMIM:253280
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand OMIM:228250
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epiphyseal stippling, Single transverse palmar crease, Hypoplastic pelvis, Hydronephrosis, Aplasi... OMIM:308050
Sjögren-Larsson Syndrome
Corneal erosion, Macular degeneration, Abnormality of retinal pigmentation, Abnormal dental ename... ORPHA:816
Congenital Rubella Syndrome
Cataract, Microphthalmia, Abnormality of retinal pigmentation, Glaucoma, Corneal opacity, Aplasia... ORPHA:290
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Abnormal metaphysis morphology, Proximal placement of thumb, Rhizomelia, Large fontanel... ORPHA:93267
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Cone-shaped epiphyses of the phalanges of the ha... OMIM:309350
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Retinal detachment, Microphthalmia, Macular coloboma, Sclerocornea, Microcornea, O... OMIM:615145
Cat-Eye Syndrome
Hydronephrosis, Iris coloboma, Hip dysplasia, Microphthalmia, Abnormal rib morphology, Chorioreti... ORPHA:195
Osteoporosis-Pseudoglioma Syndrome
Angle closure glaucoma, Retinal detachment, Exudative retinopathy, Microphthalmia, Exudative vitr... ORPHA:2788
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Melena, Hematuria, Opacification of the corneal stroma, Corneal n... OMIM:158310
Irvan Syndrome
Vitreous floaters, Ocular hypertension, Retinal exudate, Retinal detachment, Tractional retinal d... ORPHA:209943
Acro-Renal-Mandibular Syndrome
Hip dislocation, Finger syndactyly, Hypoplastic scapulae, Thin ribs, Micrognathia, Split hand, Ab... ORPHA:958
Woolly Hair Nevus
Woolly scalp hair, Congenital posterior occipital alopecia, Patchy hypopigmentation of hair, Curl... ORPHA:79414
Scholte Syndrome
Micropenis, Patellar hypoplasia, Small hand, Acromicria, Short foot OMIM:300977
Sturge-Weber Syndrome
Choroidal hemangioma, Buphthalmos OMIM:185300
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Microphthalmia With Brain And Digit Anomalies
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Sclerocornea, Anophthalmia, Micr... ORPHA:139471
Rapadilino Syndrome
Stiff interphalangeal joints, Joint dislocation, Sparse eyebrow, Aplasia/Hypoplasia of the patell... OMIM:266280
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Abnormal metacarpophalangeal joint morphology, Metatarsal synostosis, Abnormalit... ORPHA:95699
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria OMIM:257910
Cofs Syndrome
Cataract, Camptodactyly of finger, Prominent metopic ridge, Death in infancy, Microphthalmia, Tal... ORPHA:1466
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyal... ORPHA:231736
Cleidocranial Dysplasia 1
Hip dislocation, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly, Absent parana... OMIM:119600
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Limb undergrowth, Wide anterior fontanel, Wormian bones, Mesomelia... OMIM:601356
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Microphthalmia, Bone spicule pi... OMIM:611040
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Keratoconjunctivitis sicca, Corneal dystrophy, Optic nerve hypoplasia, Buphthalmos, C... ORPHA:495875
Isolated Ectopia Lentis
Cataract, Hypertension, Ectopia pupillae, Ectopia lentis ORPHA:1885
Gombo Syndrome
Clinodactyly, Microphthalmia, Brachydactyly, Radial deviation of finger OMIM:233270
Cockayne Syndrome
Retinal atrophy, Pigmentary retinopathy, Keratoconjunctivitis sicca, Retinal dystrophy, Proteinur... ORPHA:191
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Hypertension, Bradycardia, Flexion contracture, Tachycardia, Retinal hemorrhage OMIM:614653
Sialidosis Type 2
Inguinal hernia, Abnormal macular morphology, Umbilical hernia, Nephropathy, Corneal opacity, Fle... ORPHA:87876
Glaucoma 1, Open Angle, F
Ocular hypertension, Open angle glaucoma, Increased cup-to-disc ratio OMIM:603383
Meier-Gorlin Syndrome 5
Patellar aplasia, Prominent metopic ridge, Micropenis, Irregular femoral epiphysis, Slender long ... OMIM:613805
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Temtamy Syndrome
Iris coloboma, Genu varum, Microphthalmia, Brachydactyly, Short toe, Chorioretinal coloboma, Micr... ORPHA:1777
Hurler-Scheie Syndrome
Cardiomyopathy, Hernia, Corneal opacity, Abnormal nerve conduction velocity ORPHA:93476
Porphyria Cutanea Tarda
Stage 5 chronic kidney disease, Corneal scarring, Increased urinary porphobilinogen, Porphyrinuri... ORPHA:101330
Van Bogaert-Hozay Syndrome
Abnormal hair morphology, Astigmatism, Osteolytic defects of the phalanges of the hand, Micrognat... OMIM:277150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Macular Corneal Dystrophy
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... ORPHA:98969
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Hypertension, Telangiectasia, Glaucoma, Leukocoria OMIM:219250
Duane Retraction Syndrome
Optic disc hypoplasia, Preaxial hand polydactyly, Hypoplasia of the radius, Triphalangeal thumb, ... ORPHA:233
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Death in infancy, Ulnar bowing, Shortening of all distal phalanges of the... OMIM:619135
Harel-Yoon Syndrome
Peripheral axonal neuropathy, Corneal opacity, Hypertrophic cardiomyopathy, Developmental catarac... OMIM:617183
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae, Micrognathia OMIM:602196
Short-Rib Thoracic Dysplasia 12
Hypoplastic nipples, Short toe, Bowing of the legs, Brachydactyly, Horizontal ribs, Hypoplastic s... OMIM:269860
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Down-sloping shoulders, Camptodactyly, Pectus excavatum, Astigmatism, Knee flexion cont... OMIM:619694
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Gms Syndrome
Rieger anomaly, Tricuspid regurgitation ORPHA:2090
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Abnormality of the seventh cranial nerve, Corneal perforation, Corneal ulceration, Uveitis, Abnor... ORPHA:548
Erythrokeratodermia Variabilis
Cataract, Glaucoma, Corneal opacity ORPHA:317
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Sparse eyelashes, Fine hair, Fifth finger distal phalanx clinodactyly, Large fontanelle... OMIM:257850
Myocarditis, Hypovolemic shock, Acute kidney injury, Corneal ulceration, Hemolytic-uremic syndrom... ORPHA:810
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Ectopia pupillae, Astigmatism, Enamel hypoplasia, Microphthalmia, Glaucoma, Scarring al... OMIM:618727
Aniridia 2
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy OMIM:617141
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Elbow dislocation, Absent radius, Genu varum, Phocome... OMIM:171480
Meier-Gorlin Syndrome 4
Patellar aplasia, Lateral clavicle hook, Breast hypoplasia, Genu recurvatum, Slender long bone, M... OMIM:613804
Ophthalmomandibulomelic Dysplasia
Megalocornea, Camptodactyly of finger, Corneal opacity, Glaucoma ORPHA:2741
Frank-Ter Haar Syndrome
Camptodactyly, Abnormally large globe, Megalocornea, Buphthalmos, Developmental glaucoma OMIM:249420
Galloway-Mowat Syndrome 1
Cataract, Microphthalmia, Cerebellar atrophy, Hypoplasia of the iris, Hypoplasia of the brainstem... OMIM:251300
Atelosteogenesis, Type I
Clubbing, Long clavicles, Short metatarsal, Rhizomelia, Multinucleated giant chondrocytes in epip... OMIM:108720
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Cerebellar dysplasia, Hydrocephalus, Dysplastic corpus c... OMIM:604213
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Ectopic kidney, Optic disc pallor, Death in infancy, Microphthalmia, Neonatal death, Cy... OMIM:613730
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent corneal erosions, Corneal scarring, Corneal ulceration, Decreased number of peripheral ... OMIM:256810
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Microphthalmia, Anencep... OMIM:611134
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Retinal dystrophy OMIM:615147
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Retinal dysplasia, Developme... OMIM:613154
Brittle Cornea Syndrome 2
Corneal perforation, Inguinal hernia, Megalocornea, Keratoglobus, Umbilical hernia, Decreased cor... OMIM:614170
Hao-Fountain Syndrome
Hallux valgus, Micropenis, Large fontanelles, Delayed cranial suture closure, Clinodactyly of the... OMIM:616863
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Ectopia pupillae, Long eyelashes, 3-4 finger syndactyly, Rhizomelia, Microphthalmia, 2-... OMIM:615877
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... ORPHA:370097
Familial Dysautonomia
Corneal erosion, Abnormal pupil morphology, Hypertension, Renal insufficiency, Corneal opacity, O... ORPHA:1764
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morpho... ORPHA:280195
Oculocerebrorenal Syndrome Of Lowe
Inguinal hernia, Nephrocalcinosis, Multiple renal cysts, Proteinuria, Lentiglobus, Microphthalmia... ORPHA:534
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Craniotelencephalic Dysplasia
Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Cerebellar hypoplasi... ORPHA:1528
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Hypertension, Corneal opacity, ... OMIM:166300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Long clavicles, Hypoplastic nipples, Short tibia, Abnormality of the costochondral junction, Undu... ORPHA:96334
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Hand polydactyly, Hip dislocation, Missing ribs, Abnormality of the ... OMIM:200980
Cerebrooculofacioskeletal Syndrome 2
Cataract, Death in childhood, Camptodactyly of finger, Micropenis, Rocker bottom foot, Microphtha... OMIM:610756
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Absent radius, Aplasia/Hypoplasia of the thumb, Microphthalmia, Aplasia of the 1st metacarpal, Oc... ORPHA:1352
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Joubert Syndrome With Renal Defect
Encephalocele, Iris coloboma, Hydrocephalus, Aganglionic megacolon, Molar tooth sign on MRI, Agen... ORPHA:220497
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Attenuation of retinal ... OMIM:604393
Walker-Warburg Syndrome
Cataract, Chorioretinal dysplasia, Iris coloboma, Retinal detachment, Microphthalmia, Hypoplasia ... ORPHA:899
Osteoglophonic Dysplasia
Camptodactyly of finger, Short thumb, Short metatarsal, Rhizomelia, Broad thumb, Short phalanx of... OMIM:166250
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Limb joint contracture, Cone/cone-rod dystrophy, Pigmentary retinopathy, Corneal scarring, Optic ... ORPHA:404454
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bilateral talipes equinovarus, Hypoplastic scapulae, Short clavicles, Bowed humerus, Hypoplastic ... OMIM:618022
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Chorioretinal dysplasia, Optic disc pallor, Microphthalmia, Cerebellar hypoplasia OMIM:251270
Cone-Rod Dystrophy 16
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallo... OMIM:614500
Waardenburg Syndrome, Type 2A
Hypoplastic iris stroma, Heterochromia iridis OMIM:193510
Microcephaly-Micromelia Syndrome
Craniosynostosis, Forearm undergrowth, Oligodactyly, Absent radius, Missing ribs, Short tibia, Mi... OMIM:251230
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Hypoplas... OMIM:113000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Campomelic Dysplasia
Hydronephrosis, Hip dislocation, Hypoplastic inferior ilia, Micrognathia, Short long bone, Narrow... ORPHA:140
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Peripheral axonal neuropathy, Optic nerve hypoplasia, Corneal opacity, Hypertrophic car... ORPHA:496790
Alport Syndrome 2, Autosomal Recessive
Cataract, Proteinuria, Stage 5 chronic kidney disease, Corneal erosion, Renal insufficiency, Hype... OMIM:203780
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Microphthalmia, Retinal degeneration, Shallow ante... OMIM:267760
Joubert Syndrome With Oculorenal Defect
Encephalocele, Iris coloboma, Hydrocephalus, Aganglionic megacolon, Chorioretinal coloboma, Molar... ORPHA:2318
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Warburg Micro Syndrome 1
Microphthalmia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Developmental cataract, Opti... OMIM:600118
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Keratoconjunctivitis sicca, Buphthalmos, Retinal degeneration OMIM:618479
Pierpont Syndrome
Short finger, Deep plantar creases, Micropenis, Deep palmar crease, Microphthalmia, High anterior... OMIM:602342
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Bilateral talipes equinovarus, Patellar hypoplasia, Preaxial foot polydactyly, Stil... OMIM:119800
Porphyria, Congenital Erythropoietic
Pink urine, Red urine, Corneal scarring, Joint contracture of the hand, Conjunctivitis, Atypical ... OMIM:263700
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Patellar aplasia, Hip dislocation, Micrognathia ORPHA:2058
Multiple Synostoses Syndrome 1
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Single transver... OMIM:186500
Congenital Ichthyosiform Erythroderma
Corneal erosion, Keratitis ORPHA:79394
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Optic atrophy, Limb joint contracture, Abnormally large globe, Hypospadias OMIM:300004
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Microphthalmia, Hydrocephalus OMIM:614830
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Congenital Varicella Syndrome
Cataract, Micromelia, Microphthalmia ORPHA:291
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Kid Syndrome
Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Limbal stem cell deficiency, Knee flexion... ORPHA:477
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Corneal opacity ORPHA:281090
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Bietti Crystalline Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... ORPHA:41751
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Lowe Oculocerebrorenal Syndrome
Proximal renal tubular acidosis, Camptodactyly of finger, Stage 5 chronic kidney disease, Renal F... OMIM:309000
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis, Proximal radial head dislocation, Proximal placement of thumb, Mesomelia, Microgn... OMIM:602418
Trisomy 13
Cataract, Iris coloboma, Microphthalmia, Aplasia/Hypoplasia of the iris, Optic atrophy, Chiari ma... ORPHA:3378
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... ORPHA:85188
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Patellar aplasia, Camptodactyly of finger, Epispadias, Abnormal epiphysis morph... ORPHA:2554
Alagille Syndrome
Short distal phalanx of finger, Abnormality of the ureter, Abnormal pupil morphology, Corneal dys... ORPHA:52
Acromesomelic Dysplasia 2C
Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ... OMIM:201250
Nivelon-Nivelon-Mabille Syndrome
Optic disc coloboma, Hypoplasia of the iris, Cerebellar vermis hypoplasia OMIM:600092
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia, Hydrocephalus OMIM:601794
Megalocornea-Intellectual Disability Syndrome
Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morphology, Hypoplasia of the ... ORPHA:2479
Brachyolmia Type 1, Toledo Type
Increased urinary disaccharide excretion, Opacification of the corneal stroma OMIM:271630
Adams-Oliver Syndrome 2
Retrocerebellar cyst, Hydrocephalus, Microphthalmia, Lateral ventricle dilatation, Cerebellar hyp... OMIM:614219
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Death in childhood, Corneal opacity OMIM:618961
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Heparan sulfate excretion in urine, Corneal ulcerati... OMIM:615273
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Abnormality of the wrist, Abnormality of the elbow, Hypoplasia of penis, Micromeli... ORPHA:2491
Corneal ulceration, Hypopigmentation of the fundus, Keratoconjunctivitis sicca, Abnormality of re... ORPHA:14
Li-Campeau Syndrome
Micropenis, Patellar hypoplasia, Thick eyebrow, Single transverse palmar crease, Hypertrichosis OMIM:619189
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Intracranial hemorrhage... OMIM:614424
Hepatoerythropoietic Porphyria
Keratoconjunctivitis, Corneal ulceration, Red urine, Purple urine, Scarring alopecia of scalp, Sc... ORPHA:95159
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Amoebiasis Due To Free-Living Amoebae
Corneal perforation, Corneal ulceration, Arrhythmia, Conjunctival hyperemia, Facial palsy ORPHA:68
Donnai-Barrow Syndrome
Cataract, Iris coloboma, Partial agenesis of the corpus callosum, Umbilical hernia, Hypoplasia of... OMIM:222448
Brachydactyly Type A1
Short thumb, Broad metacarpals, Distal symphalangism of hands, Short middle phalanx of finger, Sh... ORPHA:93388
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Micropenis, Abnormally large globe OMIM:618504
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Microphthalmia OMIM:615665
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Patellar hypoplasia, Micrognathia OMIM:251240
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Temtamy Syndrome
Hip dislocation, Iris coloboma, Ectopia lentis, Lens luxation, Short 2nd toe, Microphthalmia, Hig... OMIM:218340
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Cataract,... ORPHA:891
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencep... OMIM:218670
Joubert Syndrome With Ocular Defect
Encephalocele, Iris coloboma, Hydrocephalus, Aganglionic megacolon, Molar tooth sign on MRI, Agen... ORPHA:220493
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Recombinant 8 Syndrome
Deep plantar creases, Patellar aplasia, Camptodactyly of finger, Pectus excavatum, Low posterior ... ORPHA:96167
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Bowing of the long bones, Abnormality of the lower limb, Abnormal... ORPHA:1040
Wagro Syndrome
Cataract, Proteinuria, Hypertension, Aniridia, Corneal opacity, Ocular hypertension OMIM:612469
Crane-Heise Syndrome
Short distal phalanx of finger, Finger syndactyly, Hypoplastic scapulae, Hypoplasia of penis, Toe... ORPHA:1512
Pierpont Syndrome
Short finger, Abnormality of the plantar skin of foot, Excessive wrinkling of palmar skin, Deep p... ORPHA:487825
Meier-Gorlin Syndrome 2
Patellar aplasia, Camptodactyly, Breast hypoplasia, Slender long bone, Micrognathia OMIM:613800
Fibular Hemimelia
Oligodactyly, Short tibia, Increased laxity of ankles, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Glaucoma 1, Primary Open Angle, C
Ocular hypertension, Glaucoma OMIM:601682
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Hydronephrosis, Open angle glaucoma, Corneal ulceration, Recurrent corneal ... ORPHA:2363
Acro-Renal-Ocular Syndrome
Short thumb, Optic disc hypoplasia, Horseshoe kidney, Toe syndactyly, Short hallux, Preaxial hand... ORPHA:959
Ulna Hypoplasia-Intellectual Disability Syndrome
Ulnar deviation of finger, Large fontanelles, Mesomelia, Delayed cranial suture closure, Micromel... ORPHA:2249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Encephalocele, Pulmonic stenosis, Hydrocephalus, Cerebellar cyst, Holoprosencephaly, Mi... OMIM:253800
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract, Wide anterior fontanel, Death in infancy, Epiphyseal stippling, Talipes equinovarus, La... OMIM:614872
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle, Abnormal ca... OMIM:127300
Oculo-Palato-Cerebral Syndrome
Cataract, Retinal detachment, Microphthalmia, Glaucoma, Remnants of the hyaloid vascular system, ... ORPHA:2714
Lcat Deficiency
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular filtration... ORPHA:650
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Bilateral microphthalmos, Atrophy/Degeneration affecting the brainstem,... ORPHA:77299
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion, Cellulitis OMIM:614878
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Agenesis of corpus callosum, Microphthalmia OMIM:616570
Scheie Syndrome
Mucopolysacchariduria, Aortic regurgitation, Abnormal nerve conduction velocity, Glaucoma, Cornea... ORPHA:93474
Proteus-Like Syndrome
Cataract, Shagreen patch, Abnormal pupil morphology, Retinal detachment, Subcutaneous lipoma, Lim... ORPHA:2969
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Encephalocele, Partial agenesis of the corpus callosum, Hydrocephalus, Microphthalmia, ... OMIM:614643
Cenani-Lenz Syndrome
Cataract, Oligodactyly, Foot oligodactyly, Hip dislocation, Short thumb, Finger syndactyly, Synos... ORPHA:3258
Axenfeld-Rieger Syndrome, Type 1
Ectopia pupillae, Abnormally prominent line of Schwalbe, Megalocornea, Rieger anomaly, Hypoplasia... OMIM:180500
Stromme Syndrome
Cataract, Hydronephrosis, Retinal vascular tortuosity, Iris coloboma, Optic nerve hypoplasia, Mic... OMIM:243605
Myopia 23, Autosomal Recessive
Increased axial length of the globe OMIM:615431
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Aniridia 3
Cataract, Aniridia OMIM:617142
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia OMIM:617127
Megalocornea-Mental Retardation Syndrome
Megalocornea, Hypoplasia of the iris, Iridodonesis OMIM:249310
Mucolipidosis Type Iv
Retinopathy, Corneal opacity, Abnormality of retinal pigmentation ORPHA:578
Curry-Jones Syndrome
Craniosynostosis, Iris coloboma, Finger syndactyly, Microphthalmia, Toe syndactyly, Broad thumb, ... ORPHA:1553
Tubulointerstitial Nephritis And Uveitis Syndrome
Decreased glomerular filtration rate, Papilledema, Ocular hypertension, Beta 2-microglobulinuria,... ORPHA:91500
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Iris hypopigmentation, Narrow palm, Hypopigmentation of hair, Small hand, Abnormal ul... ORPHA:177910
Warburg-Cinotti Syndrome
Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Flexion contracture of fi... OMIM:618175
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Camptodactyly of finger, Long eyelashes, Microphthalmia, Micrognathia, Microcornea ORPHA:48431
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Frontonasal Dysplasia 1