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Gene: Grip1 MGI:1921303

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
glutamate receptor interacting protein 1
Synonyms:
4931400F03Rik,  eb

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Grip1 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 associated to Grip1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fraser Syndrome
Toe syndactyly, Abnormality of the urinary system, Finger syndactyly, Wide pubic symphysis, Anoph... ORPHA:2052
Fraser Syndrome 3
Hypoplasia of the bladder, Short toe, Bilateral renal agenesis, Ureteral agenesis, Cutaneous synd... OMIM:617667

The table below shows human diseases predicted to be associated to Grip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Localized skin lesion, Atypical scarring of skin, Keloids, Erythematous papule, Hyperkeratotic pa... ORPHA:79410
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle, Vasculitis in the skin ORPHA:90000
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Striae distensae, Transient ischemic attack, Cerebral ischemia... ORPHA:36382
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly OMIM:613681
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Microphthalmia/Coloboma 4
Microphthalmia, Microcornea, Coloboma, Orbital cyst OMIM:251505
Scalp Defects And Postaxial Polydactyly
Aplasia cutis congenita of scalp, Postaxial polydactyly type A OMIM:181250
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Ptosis, Retina... ORPHA:1473
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Upslanted palpebral fissure, Hypoplasia of the fovea, Epicanthus, Ptosis, Iris cyst OMIM:620086
Dowling-Degos Disease
Palmar pits, Hyperkeratotic papule, Erythematous papule, Epidermoid cyst, Hyperpigmented papule, ... ORPHA:79145
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Darier Disease
Plantar pits, Palmoplantar keratoderma, Acrokeratosis, Skin vesicle, Macule, Hypermelanotic macule ORPHA:218
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Brachydactyly Type A4
Shortening of all middle phalanges of the toes, Short middle phalanx of the 2nd finger, Talipes e... ORPHA:93394
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Anophthalmia, Polydactyly, Talipes equinovarus, Microphthalmia, Polycysti... OMIM:613885
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly OMIM:615991
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Congenital Absence Of Upper Arm And Forearm With Hand Present
Atypical scarring of skin, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Synd... ORPHA:294975
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Arthrogryposis, Distal, Type 2B2
Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Talipes equinovalgus, Overlap... OMIM:618435
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle ORPHA:2841
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga OMIM:613618
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Polydactyly OMIM:615987
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Hemorrhage of... ORPHA:91495
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Spinal Muscular Atrophy With Impaired Intellectual Development
Syndactyly OMIM:271109
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Pruritic Urticarial Papules And Plaques Of Pregnancy
Erythematous papule, Urticarial plaque, Striae distensae, Erythematous plaque, Skin vesicle, Palm... ORPHA:64745
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Death in infancy, Epicanthus, Downslanted palpebral fissures OMIM:614882
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Short thumb, Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe OMIM:176305
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis OMIM:620009
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Aniridia, Telecanthus, Corneal opacity, Communicating hydrocephalus, D... ORPHA:1064
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Aniridia, Telecanthus, Developmental glaucoma OMIM:206750
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Upslanted palpebral fissure, Epicanthus, Microphthalmia ORPHA:2528
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Arthrogryposis, Distal, Type 1B
Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Camptodactyly, Rocker... OMIM:614335
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia, Capillary malformation, Vein of Galen aneurysmal malformation OMIM:618196
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Eales Disease
Epistaxis, Macular edema, Myelopathy, Rubeosis iridis, Retinal thinning, Peripheral retinal neova... ORPHA:40923
Bardet-Biedl Syndrome 4
Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, Syndactyly OMIM:615982
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Ptosis, Microphthalmia, Iris coloboma OMIM:300915
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Coloboma, Hydrocephalus, Ocular anterior segment dysgenesis, Development... ORPHA:324416
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Talipes equinovarus, Hip dysplasia ORPHA:238578
Gómez-López-Hernández Syndrome
Telecanthus, Hydrocephalus, Corneal opacity ORPHA:1532
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Hematuria, Microphthalmia, Iris coloboma OMIM:120433
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Arthrogryposis, Distal, Type 7
Cutaneous syndactyly of toes, Talipes equinovarus, Metatarsus adductus, Hip dislocation, Hammertoe OMIM:158300
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Cat-Eye Syndrome
Chorioretinal coloboma, Downslanted palpebral fissures, Renal hypoplasia/aplasia, Hydronephrosis,... ORPHA:195
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Hyphema, Corneal keratic precipitates, Pseudophakia,... ORPHA:209959
Wells Syndrome
Skin vesicle ORPHA:901
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Hyporeflexia of upper limbs, Knee dislocation, Talipes equinov... ORPHA:178145
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Downslanted palpebral fissures, Coloboma, Microphthalmia ORPHA:1617
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Dermoids Of Cornea
Corneal opacity OMIM:304730
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Rocker bottom foot, Microphthalmia OMIM:616570
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Bruising susceptibility, Megalocornea, Umbilical hernia, Kerato... OMIM:614170
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Upslanted p... OMIM:214110
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood ve... OMIM:204000
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Axenfeld anomaly, Optic nerve misrouting, Hypoplasia of th... OMIM:609218
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Abnormal optic disc mo... ORPHA:65
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Corneal opacity ORPHA:1980
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, Renal cyst, Ren... OMIM:615993
Proboscis Lateralis
Chorioretinal coloboma, Unilateral narrow palpebral fissure, Anophthalmia, Abnormal nasolacrimal ... ORPHA:141099
Pemphigus Foliaceus
Erythema, Skin erosion, Erythematous plaque, Skin vesicle, Scaling skin, Serpiginous cutaneous le... ORPHA:79481
Neovascular Glaucoma
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino... ORPHA:94058
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Holoprosencephaly... OMIM:611638
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Spastic Paraplegia 33, Autosomal Dominant
Talipes equinovarus, Ankle clonus OMIM:610244
Meckel Syndrome, Type 9
Talipes equinovarus, Multicystic kidney dysplasia, Limb undergrowth OMIM:614209
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Downslanted palpebral fissures, Astigma... OMIM:152950
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Ventriculomegaly And Arthrogryposis
Hand clenching, Talipes equinovarus, Ulnar deviation of the wrist OMIM:619501
Aplasia Cutis Congenita
Erythema, Toe syndactyly, Skin ulcer, Finger syndactyly, Aplasia cutis congenita, Aplasia cutis c... ORPHA:1114
Erythema Of Acral Regions
Talipes equinovarus, Erythema OMIM:227000
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule, Skin vesicle ORPHA:257
Leber Congenital Amaurosis 4
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... OMIM:604393
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Death in infancy, Neonatal death, Microphthalmia, Optic disc pallor, Ectopic kidney, Cy... OMIM:613730
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Pes cavus, Distal low... OMIM:619216
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Epicanthus, Decreased corneal thickness, Keratoglobus OMIM:229200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Death in childhood, Coloboma, Retinal detachment, Hydrocephalus, Corneal opacity, Micro... OMIM:613153
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... ORPHA:52056
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Death in infancy, Developmental... OMIM:618815
Pyoderma Gangrenosum
Atrophic scars, Papule, Skin vesicle, Skin ulcer ORPHA:48104
Trisomy 17P
Aortic valve stenosis, Cataract, Downslanted palpebral fissures, Hydronephrosis, Broad eyebrow, P... ORPHA:261290
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency, Corneal opacity ORPHA:281090
Winchester Syndrome
Corneal opacity OMIM:277950
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Arthrogryposis, Distal, Type 11
Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore... OMIM:620019
Familial Multiple Nevi Flammei
Arteriovenous malformation, Skin ulcer, Hypermelanotic macule, Pulmonary embolism, Nevus flammeus... ORPHA:624
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Retinopathy, Macular atrophy, Microphthalmia, Optic disc pa... OMIM:616171
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans ORPHA:158681
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Arthrogryposis, Distal, Type 2B3
Overlapping fingers, Talipes equinovarus, Hallux valgus, Ulnar deviation of the hand, Adducted th... OMIM:618436
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Microphthalmia, ... OMIM:251270
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly OMIM:615397
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Talipes equinovarus, Upper limb amyotrophy ORPHA:99940
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph... ORPHA:209956
Cataract 42
Cataract, Developmental cataract OMIM:115900
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Morm Syndrome
Cataract, Retinal atrophy, Abnormality of the kidney, Micropenis, Retinal dystrophy ORPHA:75858
Frontofacionasal Dysplasia
Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Encephalocele, Upper ... ORPHA:1791
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria OMIM:619813
Joubert Syndrome 22
Renal hypoplasia, Postaxial foot polydactyly, 2-3 toe syndactyly, Microphthalmia, Postaxial hand ... OMIM:615665
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Lichen Planus Pemphigoides
Skin vesicle ORPHA:254478
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Single transverse palmar crease, Redundant neck skin, 2-3 to... OMIM:236500
Leber Congenital Amaurosis 9
Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood ves... OMIM:608553
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... OMIM:216360
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Morquio Syndrome C
Corneal opacity OMIM:252300
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Telecanthus, Rena... OMIM:231680
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Microphthalm... OMIM:120330
Oculoauricular Syndrome
Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod dystrophy, Pos... OMIM:612109
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Weaver Syndrome
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Pes cavus, Redundant skin, B... ORPHA:3447
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d... OMIM:102510
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Talipes equinovarus OMIM:181400
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
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
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Dermatitis Herpetiformis
Erythema, Skin vesicle, Macule ORPHA:1656
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Retinal thinning, Epiretinal membrane, Attenuation of ret... ORPHA:179
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Acquired Purpura Fulminans
Macular purpura, Shock, Macule, Internal hemorrhage, Prolonged prothrombin time, Pyoderma gangren... ORPHA:49566
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Hydrocephalus, Rod-cone dystrophy, Microphthalmia OMIM:601794
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Urinary incon... OMIM:114150
Arthrogryposis, Distal, Type 1C
Shoulder flexion contracture, Camptodactyly of finger, Elbow flexion contracture, Hip contracture... OMIM:619110
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage ORPHA:98880
Microphthalmia/Coloboma 9
Microcornea, Microphthalmia, Ptosis, Retinal detachment, Ocular anterior segment dysgenesis, Narr... OMIM:615145
Cystathioninuria
Talipes equinovarus, Cystathioninuria, Nephrolithiasis ORPHA:212
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Hamartoma of the orbital region, Bilateral microphthalmos, Lacrimal pun... ORPHA:2399
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Overlapping fingers, Knee flexion contracture, Talipes equi... OMIM:616531
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Telecanthus, Nephroblastoma, Hydronephrosis, Hy... ORPHA:314588
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Spastic Paraplegia 64, Autosomal Recessive
Talipes equinovarus OMIM:615683
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Epicanthus, Chorioretinal coloboma ORPHA:2489
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow ORPHA:3268
Retinal Capillary Malformation
Retinal exudate, Retinal capillary hemangioma, Subretinal exudate, Hyphema, Epiretinal membrane, ... ORPHA:71213
Cofs Syndrome
Cataract, Optic atrophy, Abnormality of retinal pigmentation, Death in infancy, Microphthalmia ORPHA:1466
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... OMIM:225280
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic... OMIM:610256
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst... OMIM:217800
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane OMIM:148200
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormality of the ureter, Bilateral single... ORPHA:3378
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Vesicoureteral reflux, Nephrolithiasis, Talipes equinovarus, Hip dysplasia, Clinodac... OMIM:617219
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Epicanthus ORPHA:85288
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Biemond Syndrome Type 2
Microphthalmia, Hypospadias, Preaxial polydactyly ORPHA:141333
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Aplasia cutis congenita, Short... OMIM:614814
Porphyria Variegata
Chronic kidney disease, Localized skin lesion, Proximal muscle weakness in upper limbs, Skin eros... ORPHA:79473
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Abnormality of retinal pigmentation, Epicanthus, Ptosis, Blepharophimos... OMIM:108145
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
1Q21.1 Microduplication Syndrome
Talipes equinovarus, Hypospadias, Hip dislocation, Hip dysplasia ORPHA:250994
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus OMIM:208100
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Bowing of the long bones, Renal cyst, Microphthalmia, Postaxial hand ... OMIM:611561
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Talipes equinovarus, Small hand, Short foot, Hip dislocation OMIM:300434
Pseudodiastrophic Dysplasia
Talipes equinovarus, Rhizomelia, Phalangeal dislocation, Elbow dislocation ORPHA:85174
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Snakebite Envenomation
Gingival bleeding, Erythema, Localized skin lesion, Hypotension, Epistaxis, Abnormal bleeding, Ca... ORPHA:449285
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Cataract, Unilateral renal agenesis, Renal hypoplasia, Short palpebral fissure, Sparse eyebrow, U... OMIM:620654
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract, Microphthalmia, Hyp... ORPHA:2547
Iga Pemphigus
Skin plaque, Skin vesicle, Skin erosion, Annular cutaneous lesion ORPHA:555905
Lambert Syndrome
Talipes equinovarus, Hypospadias OMIM:245550
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Macular atrophy, Retinal detachment, Micropht... OMIM:212550
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Upslanted palpebral fissure, Bone spicule pigment... OMIM:616108
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Charcot-Marie-Tooth Disease, Type 4H
Small hypothenar eminence, Pes cavus, Distal lower limb muscle weakness, Talipes equinovarus, Sma... OMIM:609311
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Nephronophthisis 15
Nephronophthisis, Polydactyly OMIM:614845
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Talipes equinovarus, Pes cavus, Upper limb amyotrophy OMIM:617087
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Ptosis, Epicanthus, Umbilical hernia ORPHA:1373
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity OMIM:252650
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Joubert Syndrome 18
Horseshoe kidney, Trident pelvis, Bowing of the long bones, Renal cyst, Talipes equinovarus, Post... OMIM:614815
Arthrogryposis, Distal, Type 2E
Talipes equinovarus, Joint contracture of the hand, Foot joint contracture OMIM:121070
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy, Microphthalmia, Shallow ante... OMIM:267760
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Cataract, Pigmentary retinopathy, Optic atrophy, Tricuspid regurgitation, P... OMIM:614866
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Hydrocephalus, Developmental cataract, Microphthalmia, Abnormal left ventricular ... OMIM:613155
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal... OMIM:608470
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele, Retinopathy OMIM:617562
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral ... OMIM:120200
Oculomaxillofacial Dysostosis
Sparse or absent eyelashes, Upslanted palpebral fissure, Abnormal eyelid morphology, Corneal opac... ORPHA:1794
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infec... OMIM:609029
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger,... ORPHA:261344
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Sparse lateral eyebrow, Upslanted palpebral fissure, Astigmatism, Long palpebral fissur... OMIM:619694
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus, Vesicoureteral reflux, Recurrent urinary tract in... OMIM:244600
Harel-Yoon Syndrome
Optic atrophy, Hypertrophic cardiomyopathy, Upslanted palpebral fissure, Developmental cataract, ... OMIM:617183
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Elbow dislocation, Short ... ORPHA:1106
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, Proximal placement o... ORPHA:139471
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Abnormal EKG OMIM:613102
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... ORPHA:65759
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Upslanted palpebral fissure, 3-Methylglutac... ORPHA:496790
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Frontonasal Dysplasia 1
Cranium bifidum occultum, Cataract, Anterior basal encephalocele, Epicanthus, Ptosis, Coloboma, M... OMIM:136760
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Unilateral renal agenesis, Developmental cataract, Corneal opacity OMIM:616603
Walker-Warburg Syndrome
Cataract, Microcornea, Retinal dysplasia, Optic atrophy, Abnormal optic nerve morphology, Anophth... ORPHA:899
Sialidosis Type 2
Nephropathy, Umbilical hernia, Abnormal macular morphology, Corneal opacity ORPHA:87876
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Comedo, Preaxial polydactyly, Nevus flammeus ORPHA:64754
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Microphthalmia, Corneal opacity, Antecu... OMIM:619339
Gordon Syndrome
Talipes, Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Seckel Syndrome 2
Clinodactyly of the 5th finger, Ectopic kidney, Microphthalmia, Heart murmur, Hypospadias OMIM:606744
Cockayne Syndrome Type 3
Lentiglobus, Microphthalmia, Optic disc pallor, Corneal ulceration, Retinal dystrophy, Cataract, ... ORPHA:90324
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot DECIPHER:46
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Distal lower limb muscle we... OMIM:600175
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Chromosome 15Q26-Qter Deletion Syndrome
Talipes equinovarus, Brachydactyly, Micropenis, Hypospadias, Short middle phalanx of finger OMIM:612626
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Say Syndrome
Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Proximal renal tubular acidosi... OMIM:181180
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Talipes equinovarus, Short 3rd toe, ... ORPHA:1326
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Microphthalmia OMIM:164180
Temtamy Syndrome
Telecanthus, Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1777
Orofaciodigital Syndrome Viii
Milia, Syndactyly, Short tibia, Polydactyly OMIM:300484
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Multicystic kidney dysplasia, Elbow dislocation, Short thumb, Ectrodactyly, Ho... ORPHA:2538
Senior-Loken Syndrome
Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o... ORPHA:3156
Abruzzo-Erickson Syndrome
Iris coloboma, Microcornea, Chorioretinal coloboma, Epicanthus, Coloboma, Coronal hypospadias, Ab... ORPHA:921
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon, Anophthalmia, Microphthalmia OMIM:611038
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Hooded eyelid, Astigmatism, U... ORPHA:96170
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Polydactyly OMIM:614465
Sneddon Syndrome
Atrophic scars, Ischemic stroke, Stroke, Cerebral hemorrhage, Hypertension OMIM:182410
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Schizophrenia 1
Renal agenesis, Short proximal phalanx of the 4th toe, Partially duplicated kidney, Ectopic kidne... OMIM:181510
Ehlers-Danlos Syndrome, Classic Type, 2
Congenital hip dislocation, Talipes equinovarus OMIM:130010
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Anophthalmia, Epicanthu... OMIM:615877
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyporeflexia of lower limbs, Pes cavus, Hip contracture, Knee flexion contracture, Distal lower l... OMIM:615290
Spastic Paraplegia 45, Autosomal Recessive
Talipes equinovarus OMIM:613162
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Prieto Syndrome
Clinodactyly, Radial deviation of finger, Talipes equinovarus, Patellar subluxation, Patellar dis... OMIM:309610
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux, Upslanted palpebral fissure ORPHA:2512
Hennekam-Beemer Syndrome
Erythema, Camptodactyly of finger, Skin vesicle, Macule, Clinodactyly of the 5th finger, Subcutan... ORPHA:2135
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Cornea... OMIM:166300
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Hydrocephalus... ORPHA:85284
Microphthalmia, Syndromic 8
Microcornea, Short palpebral fissure, Blepharophimosis, Microphthalmia OMIM:601349
Warburg Micro Syndrome 1
Optic atrophy, Microcornea, Ptosis, Developmental cataract, Microphthalmia OMIM:600118
Camptobrachydactyly
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... ORPHA:1319
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration OMIM:614844
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opac... ORPHA:2788
Congenital Rubella Syndrome
Cataract, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, M... ORPHA:290
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Talipes equinovarus, Short... OMIM:618845
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Downslanted palpebral fissures, Thick eyebrow, Long palpebral fissure, Corneal opacity... OMIM:602562
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Skin ulcer, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, V... ORPHA:743
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... OMIM:615382
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Sinus tachycardia, Short femoral neck, Pes cavus, Short humerus, Talipes equ... OMIM:616716
Arthrogryposis, Distal, Type 1A
Hand clenching, Joint contracture of the hand, Congenital hip dislocation, Elbow flexion contract... OMIM:108120
Ectrodactyly-Polydactyly
Split hand, Split foot, Postaxial hand polydactyly OMIM:225290
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Dilated cardiomyopathy, Renal insufficiency, Death in infancy, Hydronephrosis, Arrhythm... OMIM:608836
Pierpont Syndrome
Microcornea, Unilateral narrow palpebral fissure, Telecanthus, Blepharophimosis, Narrow palpebral... OMIM:602342
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Atrophic scars, Milia, Syndactyly OMIM:226700
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly OMIM:605231
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Facial Clefting, Oblique, 1
Talipes calcaneovalgus, Deep palmar crease, Microphthalmia OMIM:600251
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Small then... OMIM:613390
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun... OMIM:167730
Masa Syndrome
Talipes equinovarus, Pes cavus, Adducted thumb OMIM:303350
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Hypopigmented ... ORPHA:2251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Lissencephaly 8
Optic atrophy, Cataract, Occipital encephalocele, Microphthalmia OMIM:617255
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Zellweger Syndrome
Cataract, Multicystic kidney dysplasia, Optic atrophy, Upslanted palpebral fissure, Death in infa... ORPHA:912
Pierson Syndrome
Retinal vascular tortuosity, Death in childhood, Hypoplasia of the ciliary body, Diffuse mesangia... OMIM:609049
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Congenital Sialidosis Type 2
Cataract, Optic atrophy, Umbilical hernia, Abnormal EKG, Cherry red spot of the macula, Petechiae... ORPHA:93400
Multiple Epiphyseal Dysplasia Type 4
Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Broad foot... ORPHA:93307
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Skin vesicle, Papule, Skin ulcer, Vascular dilatation ORPHA:2314
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Bilateral talipes equinovarus OMIM:616486
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ca... OMIM:113000
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
2-3 toe syndactyly, Dry skin, 3-4 finger syndactyly, Aplasia cutis congenita of scalp OMIM:600906
Temtamy Syndrome
Aortic regurgitation, Highly arched eyebrow, Ectopia lentis, Chorioretinal coloboma, Downslanted ... OMIM:218340
Brittle Cornea Syndrome
Bruising susceptibility, Corneal scarring, Pulmonic stenosis, Decreased corneal thickness, Retina... ORPHA:90354
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Hepatic cysts, Renal cyst, Duplication of phalanx of hallux, Syndactyly OMIM:263630
Mehmo Syndrome
Micropenis, Talipes equinovarus, Hypoplasia of penis, Tapered finger ORPHA:85282
Meckel Syndrome, Type 2
Polydactyly, Bowing of the long bones, Renal cyst, Microphthalmia, Postaxial hand polydactyly OMIM:603194
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Abnormal optic disc morphology, Micropenis, Congenital stationary night bl... ORPHA:293967
Terminal Osseous Dysplasia
Toe clinodactyly, Localized skin lesion, Short toe, Clinodactyly, Camptodactyly of finger, Mesome... OMIM:300244
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Preaxial hand polydactyly, Urinary bladder wall hypertrop... OMIM:601389
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Opacification of the corneal e... OMIM:270200
Epidermolysis Bullosa, Lethal Acantholytic
Skin erosion, Sandal gap, Widely spaced toes, Mitten deformity, Aplasia cutis congenita, Clinodac... OMIM:609638
Scalp-Ear-Nipple Syndrome
Cataract, Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephritis, ... OMIM:181270
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Talipes equinovarus, Proximal muscle weakness in upper limbs, Knee flexion contracture, Upper lim... ORPHA:496689
Diastrophic Dysplasia
Ulnar deviation of finger, Short finger, Irregular epiphyses, Genu valgum, Hip contracture, Talip... OMIM:222600
Nescav Syndrome
Talipes equinovarus OMIM:614255
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly ORPHA:66625
Bartsocas-Papas Syndrome
Popliteal pterygium, Ankyloblepharon, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelash... ORPHA:1234
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Talipes equinovarus, Small hand, Cone-shaped epiphyses of the phalanges of the hand, Short palm ORPHA:85172
Microtriplication 11Q24.1
Keratoconus, Long eyelashes, Thick eyebrow, Upslanted palpebral fissure, Synophrys ORPHA:289522
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Bilateral ptosis ORPHA:329314
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Thick eyebrow, Abnormality of retinal pigmentation, Mucopolysacchariduri... ORPHA:585
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Renal insufficiency, Polydactyly, Postaxial polydactyly, Brachydactyl... OMIM:615986
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract, Ptosis, Highly arched eyebrow OMIM:616154
Humero-Radial Synostosis
Meningocele, Aplasia/Hypoplasia affecting the eye, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Optic atrophy, Proximal tubulopathy, Abnormal bleeding, Hyperechogenic... OMIM:614576
Nievergelt Syndrome
Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal s... OMIM:163400
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic atrophy, Abnormality iris morphology, Occipital encephalocele, Cardiomyopathy, Me... ORPHA:370959
Galactosemia Iv
Cataract OMIM:618881
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemorrhagic ovarian cyst, Subcutan... ORPHA:335
Wagro Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Nephroblastoma, Proteinuria, Ptosis, Corneal ... OMIM:612469
Congenital Myopathy 24
Cardiomyopathy, Pes cavus, Talipes equinovarus, First degree atrioventricular block, Scapular win... OMIM:617336
Odontochondrodysplasia 1
Mesomelia, Genu recurvatum, Metaphyseal cupping, Nephronophthisis, Micromelia, Irregular epiphyse... OMIM:184260
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of th... OMIM:617926
Ceroid Lipofuscinosis, Neuronal, 3