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, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Glaucoma, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy... OMIM:212550
Glaucoma 3, Primary Congenital, E
Glaucoma, Megalocornea, Corneal stromal edema, Ocular hypertension, Increased cup-to-disc ratio OMIM:617272
Anterior Segment Dysgenesis 5
Glaucoma, Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hy... OMIM:604229
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Glaucoma, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal D... ORPHA:98973
Glaucoma, Primary Closed-Angle
Angle closure glaucoma, Ocular hypertension, Increased cup-to-disc ratio, Anterior synechiae of t... OMIM:618880
Corneal Dystrophy, Posterior Polymorphous, 1
Glaucoma, Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning o... OMIM:122000
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Cataract, Glaucoma, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodone... OMIM:309300
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Glaucoma, Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anteri... OMIM:251750
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Increased axial length of the globe, Chorioretinal coloboma, Optic disc coloboma, Ma... OMIM:602499
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Open angle glaucom... ORPHA:137599
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H... ORPHA:83461
Neovascular Glaucoma
Glaucoma, Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropi... ORPHA:94058
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Ocular hypertension, Microphthalmia OMIM:613517
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Glaucoma, Corneal keratic precipitates, Epiretinal membrane, Retina... ORPHA:263479
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Angle closure... ORPHA:91495
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Cherry red spot of the macula, Corneal opacity ORPHA:351
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy OMIM:609141
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ... OMIM:614195
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Glaucoma, Abnormal lens morphology, Phakodonesis, Retinal... OMIM:177650
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology, Corneal perforation, Corneal scarring, Astigmatism, Recu... ORPHA:137596
Cataract 50 With Or Without Glaucoma
Cataract, Glaucoma, Persistent pupillary membrane, Retinal detachment OMIM:620253
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst... OMIM:217800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Glaucoma, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Reti... ORPHA:1473
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Clino... OMIM:169550
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Iridocorneal Endothelial Syndrome
Glaucoma, Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, A... ORPHA:64734
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Meg... OMIM:228520
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, A
Buphthalmos, Ocular hypertension, Late onset congenital glaucoma OMIM:231300
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic... OMIM:610256
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Nail-Patella Syndrome
Keratoconus, Patellar aplasia, Hematuria, Talipes equinovarus, Disproportionate prominence of the... OMIM:161200
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Retinal thinning, Epiretinal membrane, Attenuation of ret... ORPHA:179
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Hyphema, Corneal keratic precipitates, Pseudophakia,... ORPHA:209959
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia, Ocular hypertension, Iris col... OMIM:610023
Anterior Segment Dysgenesis 3
Glaucoma, Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld a... OMIM:601631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Cardiomyopathy, Hypoplasia of the brainstem, Cerebellar dysplasia, ... OMIM:613155
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Glaucoma, Ectopia lentis, Retinal vascular tortuosity, ... OMIM:106210
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy, Iris cyst OMIM:620086
Corneal Dystrophy, Congenital Stromal
Glaucoma, Corneal erosion, Increased corneal thickness, Corneal dystrophy, Band-shaped corneal dy... OMIM:610048
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Recurrent cornea... OMIM:256800
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar h... OMIM:615181
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell adenomas, Developmental cataract OMIM:147630
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Weill-Marchesani Syndrome 4
Glaucoma, Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis... OMIM:613195
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Morquio Syndrome C
Corneal opacity OMIM:252300
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Vasculiti... ORPHA:279914
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar hypo... OMIM:616171
Nail-Patella Syndrome
Equinovarus deformity, Abnormal tibia morphology, Talipes calcaneovalgus, Contracture of the dist... ORPHA:2614
Microcoria, Congenital
Glaucoma, Hypoplasia of the iris dilator muscle, Microcoria, Ocular hypertension OMIM:156600
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Oculoauricular Syndrome
Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod dystrophy, Pos... OMIM:612109
Marsili Syndrome
Corneal scarring OMIM:147430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar c... OMIM:613153
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Epithelial Recurrent Erosion Dystrophy
Corneal erosion OMIM:122400
Winchester Syndrome
Corneal opacity OMIM:277950
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum morphology, Hydr... ORPHA:1532
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h... ORPHA:3329
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Abnormal pupil morphology, Periph... ORPHA:101082
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Retinal dystrophy ORPHA:370997
Tetralogy Of Fallot And Glaucoma
Developmental glaucoma OMIM:187501
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Hypoplastic scapulae, Micromelia, Death in early adulthood, Femoral retroversion, Dysph... ORPHA:79107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Glaucoma, Microphthalmia, Buphthalmos, Retinal dystrophy OMIM:616538
Juvenile Glaucoma
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... ORPHA:98977
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Optic atrophy, Glaucoma, Decreased distal sensory nerve action potential, Buphthalmos, ... ORPHA:99956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Glaucoma, Peters anomaly, Congenital contracture, Death in infancy, Microphthalmia, Bup... OMIM:613150
Autosomal Recessive Spastic Paraplegia Type 25
Developmental glaucoma, Abnormality of peripheral nerve conduction, Developmental cataract ORPHA:101005
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Talipes equinovarus, ... ORPHA:2839
Cataract 9, Multiple Types
Cataract, Microcornea, Glaucoma, Progressive cataract, Developmental cataract, Microphthalmia, Ir... OMIM:604219
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Traboulsi Syndrome
Cataract, Homocystinuria, Ectopia lentis, Ocular hypertension, Phakodonesis, Microphthalmia, Iris... OMIM:601552
Dystonia-Deafness Syndrome 1
Cataract, Hypoplastic scapulae, Pseudobulbar paralysis, Femoral retroversion, Dysphagia OMIM:607371
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Keratitis, Elbow flexion contracture, Corneal scarring, Knee flexion contracture, Recurrent corne... OMIM:148210
Brittle Cornea Syndrome
Glaucoma, Corneal scarring, Hernia, Pulmonic stenosis, Decreased corneal thickness, Retinal detac... ORPHA:90354
Distal Deletion 6P
Glaucoma, Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior cham... ORPHA:96125
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... OMIM:223800
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Acromesomelic Dysplasia 2A
Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibular s... OMIM:200700
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Lissencephaly 8
Optic atrophy, Cataract, Occipital encephalocele, Hypoplasia of the brainstem, Cerebellar hypopla... OMIM:617255
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Microspherophakia, Ectopia lentis, Ocular hypertension, Shallow anterior c... OMIM:614819
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the an... ORPHA:79098
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Corneal opacity, Developme... OMIM:618815
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Umbilical hernia, Advanced t... OMIM:269250
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Hypertension, Glomerular sclerosis, Orthostatic hypotension, Decrease... OMIM:223900
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cataract, Abnormality iris morphology, Hypoplasia of the pons, Occipital encephalo... ORPHA:370959
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Agel Amyloidosis
Cataract, Glaucoma, Cardiomyopathy, Stage 5 chronic kidney disease, Orthostatic hypotension due t... ORPHA:85448
Recurrent corneal erosions OMIM:148800
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t... ORPHA:3103
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... OMIM:187601
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic atrophy, Glaucoma, Peters anomaly, Congenital contracture, Megalocornea, Retinal ... OMIM:236670
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Herpetiform corneal ulcer... OMIM:276600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Retinal degeneration, Microphthalmia, Flexion contracture OMIM:615249
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Holoprosencephaly... OMIM:611638
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Ocular... OMIM:107250
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane OMIM:148200
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante... ORPHA:67042
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral ... OMIM:120200
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Optic nerve misrouting, Axenfeld anomaly, Hypoplasia of th... OMIM:609218
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Rieger anomaly, Agene... OMIM:109120
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Cerebellar malformation, Hydrocephalus, Ocular anterior segment dysgenes... ORPHA:324416
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... OMIM:617604
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Sparse scalp hair, Radial bowing, Hypoplastic iliac wing, ... OMIM:210720
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow chest, Micromel... ORPHA:85166
Xfe Progeroid Syndrome
Optic atrophy, Corneal scarring, Attenuation of retinal blood vessels, Renal insufficiency, Absen... OMIM:610965
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Micr... OMIM:278730
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Cleidocranial Dysplasia
Hypoplastic scapulae, Genu valgum, Micrognathia, Large fontanelles, Abnormal metacarpal morpholog... ORPHA:1452
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Rieger anomaly, Nephrolithiasis, Primary congenital glaucoma, Retinal detachment, Buphthalmos ORPHA:521445
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Atrophic scars, Corneal scarring, Enamel hypoplasia, Conjunctivitis, Flexion contracture OMIM:226600
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Microp... OMIM:613001
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Corneal Dystrophy, Meesmann, 2
Recurrent corneal erosions OMIM:618767
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Cataract, Arthralgia of the hip, Broad hal... ORPHA:1856
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... ORPHA:54
Axenfeld-Rieger Syndrome, Type 3
Glaucoma, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, ... OMIM:602482
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Aniridia, Developmental glaucoma OMIM:206750
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Khan-Khan-Katsanis Syndrome
Glaucoma, Pigmentary retinopathy, Renal hypoplasia, Peters anomaly, Tricuspid regurgitation, Corn... OMIM:618460
Alexander Disease
Death in adolescence, Microcoria, Death in childhood, Death in infancy OMIM:203450
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture OMIM:160565
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Bowing of the long bones, Flat acetabular roof, Sparse hair, Hypospadias, P... OMIM:614091
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving the pelvis, Abnormal ti... ORPHA:2879
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
9Q33.3Q34.11 Microdeletion Syndrome
Highly arched eyebrow, Patellar dislocation, Patellar hypoplasia, Patellar aplasia, Astigmatism, ... ORPHA:495818
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity OMIM:252650
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met... OMIM:187600
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Frontal balding, Short toe, Patellar hypoplasia, Thoracic kyphosis, Pes cavus, Self-mutilation, 2... ORPHA:3041
Aniridia And Absent Patella
Cataract, Aniridia, Aplasia/Hypoplasia of the patella OMIM:106220
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Mosaic Trisomy 8
Narrow chest, Deep plantar creases, Abnormal rib morphology, Camptodactyly of finger, Micrognathi... ORPHA:96061
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, G... OMIM:143200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... OMIM:276820
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Irregular epiph... OMIM:607326
Achondrogenesis, Type Ia
Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe limb shortening, Bell-shaped... OMIM:200600
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna... OMIM:602471
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, My... OMIM:252500
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia... OMIM:265000
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Lymphedema-Distichiasis Syndrome
Cellulitis, Recurrent corneal erosions, Arrhythmia, Microphthalmia, Conjunctivitis, Corneal ulcer... OMIM:153400
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Narrow chest, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbel... ORPHA:440354
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Breast hypoplasia, Postaxia... OMIM:181450
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Cockayne Syndrome Type 3
Lentiglobus, Peripheral axonal neuropathy, Microphthalmia, Optic disc pallor, Corneal ulceration,... ORPHA:90324
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Alport Syndrome
Focal segmental glomerulosclerosis, Anterior lenticonus, Posterior subcapsular cataract, Macular ... ORPHA:63
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Keratoconjunctivitis sicca, Corneal neovascularization, Uveitis OMIM:617388
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Hematuria, Microphthalmia, Iris coloboma OMIM:120433
Coach Syndrome 2
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Agenesis of corpus callosum, Hydrocephalus,... OMIM:619111
2Q24 Microdeletion Syndrome
Cataract, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Abnormality iris morphology... ORPHA:1617
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Gillespie Syndrome
Cerebellar hypoplasia, Aniridia, Cerebellar atrophy, Hypoplasia of the iris OMIM:206700
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Broad thumb, Toe syndactyly, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Talipes equinovarus, Short 3rd toe, ... ORPHA:1326
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Slender finger, Narrow chest, Hemiatrophy of upper limb, Oligosacchariduria, Micrognath... ORPHA:163649
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Corneal scarring OMIM:301220
Joubert Syndrome 9
Cataract, Encephalocele, Astigmatism, Molar tooth sign on MRI OMIM:612285
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Large fontanelles, Patellar aplasia... OMIM:218600
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Aplasia/Hypoplasia of the patella ORPHA:1069
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Microphthalmia, Ir... OMIM:607323
Hec Syndrome
Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Abnormal retinal vascular morphology, Deve... ORPHA:2119
Ramos-Arroyo Syndrome
Keratitis, Choriocapillaris atrophy, Chorioretinal atrophy, Aganglionic megacolon, Abnormal auton... ORPHA:1051
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Glaucoma, Microcornea, Facial paralysis, Hypopigmentation of the fundus, Hypoplasia of the iris, ... OMIM:175780
Bartsocas-Papas Syndrome 2
Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Microphthalmia, Absent distal ... OMIM:619339
Neuhauser Syndrome
Hypoplasia of the iris, Megalocornea, Iridodonesis, Retinal detachment, Abnormal intraocular pres... OMIM:249310
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... OMIM:119100
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Umbilical hernia, Portal hypertension, Hiatus hernia, Renal cyst, Buphthalmos, Ocular hypertensio... OMIM:610199
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Micrognathia, Abnormal metacarpal morphology, Absent radius, Microphthalmia, Sparse... OMIM:268300
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Microphthalm... OMIM:615771
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Megalocornea, Vesicoureteral reflux, Aganglionic megacolon, Corneal ulcerat... OMIM:609460
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Horseshoe kidney, Fibular aplasia,... ORPHA:3320
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Iris coloboma, Chorioretinal coloboma OMIM:601706
Genitopatellar Syndrome
Hypoplastic ilia, Multicystic kidney dysplasia, Sparse scalp hair, Fine hair, Micrognathia, Patel... ORPHA:85201
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Microphthalmia, Short metacarpal, Hy... ORPHA:85167
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... ORPHA:52056
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Buphthalmos, Nephrocalcinosis, Glaucoma, Joint contracture OMIM:618005
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:300915
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Mucolipidosis Type Iii
Inguinal hernia, Corneal opacity ORPHA:577
Meier-Gorlin Syndrome 3
Narrow chest, Microretrognathia, Sparse pubic hair, Slender long bone, Patellar hypoplasia, Short... OMIM:613803
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Abnormally large globe, Optic atrophy, Abnormal lens morphology ORPHA:363417
Mietens Syndrome
Cataract, Microcornea, Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Ta... ORPHA:2557
Penoscrotal Transposition
Pectus carinatum, Penoscrotal transposition, Abnormality of the urethra, Abnormality of the urete... ORPHA:2842
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Rothmund-Thomson Syndrome Type 1
Sparse hair, Patellar hypoplasia, Plantar hyperkeratosis, Metaphyseal sclerosis, Alopecia totalis... ORPHA:221008
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Aganglionic megacolon, Arrhythmia, Abnormal pupil morphology ORPHA:2151
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Aplasia of the ulna, Neonatal death OMIM:276822
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Alopecia totalis, Micrognathia, Absent eyelashes, T... OMIM:263650
Short Syndrome
Glaucoma, Hypoplasia of the iris, Megalocornea, Abnormal dental enamel morphology, Abnormal pupil... ORPHA:3163
Hao-Fountain Syndrome
Delayed cranial suture closure, Large fontanelles, Aggressive behavior, Hallux valgus, Micropenis... OMIM:616863
Kuskokwim Syndrome
Talipes, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Aplasia/Hypoplasia of th... ORPHA:1149
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Abnormal clavicle morphology, ... ORPHA:93267
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact... OMIM:308050
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Ocular hypertension, Megalocornea, Astigmatism, Corneal ... ORPHA:566
Sjögren-Larsson Syndrome
Macular degeneration, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Ret... ORPHA:816
Melnick-Needles Syndrome
Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathia, Talipes equinova... OMIM:309350
Congenital Rubella Syndrome
Cataract, Glaucoma, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:290
Rothmund-Thomson Syndrome Type 2
Sparse hair, Joint dislocation, Patellar hypoplasia, Plantar hyperkeratosis, Metaphyseal sclerosi... ORPHA:221016
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Hematuria, Keratoconjunctivitis, Melena, Opacification of t... OMIM:158310
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl... ORPHA:958
Microphthalmia/Coloboma 9
Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea... OMIM:615145
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Cat-Eye Syndrome
Chorioretinal coloboma, Hydronephrosis, Abnormal rib morphology, Microphthalmia, Hip dysplasia, I... ORPHA:195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Optic atrophy, Glaucoma, Megalocornea, Hypoplasia of the retina, Retinal degeneration, ... OMIM:253280
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Angle closure glaucoma, Abnormal vitreous humor morphology, Retinal ... ORPHA:2788
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Radioulnar synostosi... ORPHA:95699
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Brac... ORPHA:79414
Sturge-Weber Syndrome
Choroidal hemangioma, Buphthalmos OMIM:185300
Scholte Syndrome
Small hand, Patellar hypoplasia, Acromicria, Micropenis, Short foot OMIM:300977
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Glaucoma, Tractional retinal detachment, Vitreous ... ORPHA:209943
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Enamel hypoplasia, Opacificati... OMIM:270200
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Iris c... ORPHA:139471
Cofs Syndrome
Cataract, Camptodactyly of finger, Micrognathia, Death in infancy, Talipes, Microphthalmia, Promi... ORPHA:1466
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Cockayne Syndrome
Lentiglobus, Reduced subcutaneous adipose tissue, Peripheral axonal neuropathy, Microphthalmia, U... ORPHA:191
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Hypospadias, Corneal dystro... ORPHA:495875
Isolated Ectopia Lentis
Hypertension, Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortening of all metaca... OMIM:601356
Sialidosis Type 2
Nephropathy, Abnormal macular morphology, Umbilical hernia, Inguinal hernia, Corneal opacity, Fle... ORPHA:87876
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hypertension OMIM:614653
Meier-Gorlin Syndrome 5
Clinodactyly, Slender long bone, Elbow dislocation, Hypoplasia of the capital femoral epiphysis, ... OMIM:613805
Temtamy Syndrome
Short toe, Chorioretinal coloboma, Micrognathia, Pes planus, Brachydactyly, Microphthalmia, Clino... ORPHA:1777
Glaucoma 1, Open Angle, F
Open angle glaucoma, Ocular hypertension, Increased cup-to-disc ratio OMIM:603383
Hurler-Scheie Syndrome
Hernia, Abnormal nerve conduction velocity, Cardiomyopathy, Corneal opacity ORPHA:93476
Rapadilino Syndrome
Sparse eyebrow, Aplasia/Hypoplasia of the radius, Joint dislocation, Absent thumb, Sparse eyelash... OMIM:266280
Van Bogaert-Hozay Syndrome
Abnormal hair morphology, Micrognathia, Astigmatism, Osteolytic defects of the phalanges of the h... OMIM:277150
Porphyria Cutanea Tarda
Corneal scarring, Increased urinary porphobilinogen, Stage 5 chronic kidney disease, Porphyrinuri... ORPHA:101330
Craniotelencephalic Dysplasia
Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Frontal encepha... ORPHA:1528
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Short 1st metacarpal, Chorioretinal coloboma, Short first metatarsal, Epip... OMIM:619135
Harel-Yoon Syndrome
Optic atrophy, Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Developmental cataract,... OMIM:617183
Cutis Marmorata Telangiectatica Congenita
Glaucoma, Telangiectasia, Leukocoria, Retinal detachment, Hypertension OMIM:219250
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Sparse lateral eyebrow, Micrognathia, Astigmatism, Knee flexion contracture, Down-slopi... OMIM:619694
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Broad foot, Neonatal death, Short palm, Short foot, Short toe, Horizontal r... OMIM:269860
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Gms Syndrome
Tricuspid regurgitation, Rieger anomaly ORPHA:2090
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Glaucoma, Ectopia pupillae, Astigmatism, Scarring alopecia of scalp, Ena... OMIM:618727
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Erythrokeratodermia Variabilis
Cataract, Glaucoma, Corneal opacity ORPHA:317
Hypovolemic shock, Acute kidney injury, Urethritis, Myocarditis, Conjunctivitis, Corneal ulcerati... ORPHA:810
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Cataract, Microcornea, Small hand, Sparse hair, 2-4 toe... OMIM:257850
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal cupping, Rhizomelia, Flared metaphysis, Ectopia pupillae, Short finger, Femoral bowin... OMIM:608940
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Encephalocel... OMIM:108720
Meier-Gorlin Syndrome 4
Genu recurvatum, Slender long bone, Breast hypoplasia, Micrognathia, Patellar aplasia, Lateral cl... OMIM:613804
Ophthalmomandibulomelic Dysplasia
Glaucoma, Corneal opacity, Camptodactyly of finger, Megalocornea ORPHA:2741
Corneal perforation, Enlarged peripheral nerve, Epistaxis, Glaucoma, Abnormal autonomic nervous s... ORPHA:548
Galloway-Mowat Syndrome 1
Optic atrophy, Cataract, Cerebellar atrophy, Hypoplasia of the iris, Hypoplasia of the brainstem,... OMIM:251300
Frank-Ter Haar Syndrome
Abnormally large globe, Megalocornea, Camptodactyly, Buphthalmos, Developmental glaucoma OMIM:249420
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Partial a... OMIM:604213
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hematuria, Proximal renal tubular acidosis, Chorioretinal dysplasia, Microphthalmia,... ORPHA:534
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Death in infancy, Neonatal death, Microphthalmia, Optic disc pallor, Ectopic kidney, Cy... OMIM:613730
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Rhombencephalosynapsis, Ethmoidal encephalocele, Hypoplasia of the ... ORPHA:280195
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Microphthal... OMIM:611134
Familial Dysautonomia
Optic atrophy, Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Orthostatic ... ORPHA:1764
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent corneal erosions, Corneal scarring, Corneal ulceration, Decreased number of peripheral ... OMIM:256810
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Peripheral retinal atrophy, Absent foveal reflex, Iris coloboma, Retinal dystrophy OMIM:615147
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Rhizomelia, Ectopia pupillae, Long eyelashes, Anophthalmia, 2-3 toe syndac... OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental... OMIM:613154
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent ra... ORPHA:1352
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Chordee, Broad phalanx, ... OMIM:166250
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Absent nipple, Rudimentary fibula,... OMIM:200980
Walker-Warburg Syndrome
Cataract, Microcornea, Optic atrophy, Glaucoma, Abnormal optic nerve morphology, Anophthalmia, Ch... ORPHA:899
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Inguinal hernia, Keratoglobus, ... OMIM:614170
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Congenital diaphragmatic hernia, Proteinuria... OMIM:166300
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Cataract, Camptodactyly of finger, Micrognathia, Death in childhood, Developmental c... OMIM:610756
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... OMIM:251230
Duane Retraction Syndrome
Chorioretinal coloboma, Micrognathia, Low posterior hairline, Aplasia/Hypoplasia of the thumb, Ta... ORPHA:233
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Temtamy Syndrome
Highly arched eyebrow, Ectopia lentis, Chorioretinal coloboma, Micrognathia, Self-mutilation, Tal... OMIM:218340
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Encephalocele, Agenesis of corpus callosum, Aganglionic megacolon, ... ORPHA:220497
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Generalized aminoaciduria, Corneal scarring, Corneal neova... ORPHA:404454
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Peripheral axo... ORPHA:496790
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Cerebellar hypoplasia, Microphthalmia, Optic disc pallor, Chorioretinal dysplasia OMIM:251270
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... OMIM:618022
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Alport Syndrome 2, Autosomal Recessive
Cataract, Nephritis, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Pr... OMIM:203780
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Glaucoma, Mitral stenosis, Retinal degeneration, Cor... OMIM:607016
Waardenburg Syndrome, Type 2A
Heterochromia iridis, Hypoplastic iris stroma OMIM:193510
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, 11 pairs of ribs, Femoral bowing, Micrognathia, T... ORPHA:140
Pierpont Syndrome
Microcornea, High anterior hairline, Short toe, Prominent fingertip pads, Short finger, Deep plan... OMIM:602342
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Retinal degeneration OMIM:618479
Warburg Micro Syndrome 1
Optic atrophy, Microcornea, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebellar... OMIM:600118
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Glaucoma, Macular atrophy, Retinal degeneration, Microphthalmia, Sh... OMIM:267760
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyl... OMIM:119800
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Encephalocele, Aganglionic megacolon, Hydro... ORPHA:2318
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Congenital Ichthyosiform Erythroderma
Keratitis, Corneal erosion ORPHA:79394
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Hip dislocation, Micrognathia, Patellar aplasia ORPHA:2058
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Delayed cran... OMIM:175700
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Hydrocephalus, Microphthalmia OMIM:614830
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Optic atrophy, Abnormally large globe, Hypospadias, Limb joint contracture OMIM:300004
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Li-Campeau Syndrome
Patellar hypoplasia, Hypertrichosis, Thick eyebrow, Single transverse palmar crease, Micropenis OMIM:619189
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency, Corneal opacity ORPHA:281090
Adams-Oliver Syndrome 2
Optic atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hydrocephalus, Developmental ... OMIM:614219
Congenital Disorder Of Deglycosylation 1
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Heparan sulfate excre... OMIM:615273
Congenital Varicella Syndrome
Cataract, Micromelia, Microphthalmia ORPHA:291
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Hydrocephalus, Microphthalmia OMIM:601794
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia... OMIM:201250
Kid Syndrome
Keratitis, Corneal neovascularization, Limbal stem cell deficiency, Knee flexion contracture, Pun... ORPHA:477
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hydronephrosis, Hyp... OMIM:602418
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow dislocation, Camptodac... ORPHA:2554
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Trisomy 13
Optic atrophy, Cataract, Chiari malformation, Anophthalmia, Aplasia/Hypoplasia of the iris, Micro... ORPHA:3378
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Glaucoma, Joint contracture of the hand, Keloids, Camptodactyly of finger, Low-mol... OMIM:309000
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... ORPHA:2479
Alagille Syndrome
Keratoconus, Short distal phalanx of finger, Nephrotic syndrome, Abnormality of the ureter, Abnor... ORPHA:52
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Nivelon-Nivelon-Mabille Syndrome
Cerebellar vermis hypoplasia, Optic disc coloboma, Hypoplasia of the iris OMIM:600092
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Atypical scarring of skin, Corneal scarring, Red urine, Pink urine... OMIM:263700
Donnai-Barrow Syndrome
Cataract, Hypoplasia of the iris, Umbilical hernia, Agenesis of corpus callosum, Partial agenesis... OMIM:222448
Wagro Syndrome
Cataract, Aniridia, Proteinuria, Corneal opacity, Ocular hypertension, Hypertension OMIM:612469
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI, Microphthalmia OMIM:615665
Hypopigmentation of the fundus, Congestive heart failure, Abnormality of retinal pigmentation, Ke... ORPHA:14
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Death in childhood, Corneal opacity OMIM:618961
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Abnormally large globe OMIM:618504
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Micrognathia, Patellar hypoplasia OMIM:251240
Joubert Syndrome 14
Optic atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar ... OMIM:614424
Hepatoerythropoietic Porphyria
Red-brown urine, Purple urine, Red urine, Keratoconjunctivitis, Scarring, Scarring alopecia of sc... ORPHA:95159
Pierpont Syndrome
Microcornea, High anterior hairline, Short toe, Prominent fingertip pads, Short finger, Abnormali... ORPHA:487825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Cataract, Dilated cardiomyopathy, Hypoplasia of the brainstem, Encephalocele, Agen... OMIM:253800
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Recombinant 8 Syndrome
Deep plantar creases, Abnormal sternum morphology, Camptodactyly of finger, Abnormal hair morphol... ORPHA:96167
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... ORPHA:959
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Encephalocele, Agenesis of corpus callosum, Aganglionic megacolon, ... ORPHA:220493
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos, Cerebellar vermis atrophy, Atrophy/Degene... ORPHA:77299
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dislocation, Short distal phalanx ... OMIM:620662
Meier-Gorlin Syndrome 2
Slender long bone, Breast hypoplasia, Micrognathia, Patellar aplasia, Camptodactyly OMIM:613800
Oculo-Palato-Cerebral Syndrome
Cataract, Glaucoma, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Micr... ORPHA:2714
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial... ORPHA:2249
Glaucoma 1, Primary Open Angle, C
Glaucoma, Ocular hypertension OMIM:601682
Amoebiasis Due To Free-Living Amoebae
Corneal perforation, Conjunctival hyperemia, Arrhythmia, Facial palsy, Corneal ulceration ORPHA:68
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Retinal vasculitis, Tubulointerstitial nephritis, Am... ORPHA:91500
Leri-Weill Dyschondrosteosis
Mesomelia, Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing... OMIM:127300
Scheie Syndrome
Aortic regurgitation, Abnormal nerve conduction velocity, Glaucoma, Mucopolysacchariduria, Cornea... ORPHA:93474
Central Retinal Vein Occlusion
Glaucoma, Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosit... ORPHA:411527
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract, Large posterior fontanelle, Epiphyseal stippling, Death in infancy, Talipes equinovarus... OMIM:614872
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Cataract, Corneal erosion OMIM:614878
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Abnormal dental enamel morphology, Vesicoureteral reflux, Limbal stem cell defi... ORPHA:2363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Hydr... OMIM:614643
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:616570
Cenani-Lenz Syndrome
Synostosis of joints, Cataract, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Sh... ORPHA:3258
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele, Microphthalmia, Optic ... OMIM:218670
Aniridia 3
Cataract, Aniridia OMIM:617142
Myopia 23, Autosomal Recessive
Increased axial length of the globe OMIM:615431
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Generalized hirsutism,... ORPHA:1553
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Proteus-Like Syndrome
Cataract, Subcutaneous lipoma, Abnormal pupil morphology, Heterochromia iridis, Retinal detachmen... ORPHA:2969
Recessive Dystrophic Epidermolysis Bullosa Inversa
Urethral stricture, Atrophic scars, Corneal erosion ORPHA:79409
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Small hand, Narrow palm, Polyphagia, Hypopigmentation of hair, Short foot,... ORPHA:177910
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Bilateral renal hypoplasia, M... OMIM:243605
Axenfeld-Rieger Syndrome, Type 1
Glaucoma, Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hyp... OMIM:180500
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Increased urinary disaccharide excretion OMIM:271630
Warburg-Cinotti Syndrome