Not currently registered for phenotyping at IMPC

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

Gene Summary

glutamate receptor interacting protein 1
4931400F03Rik,  eb

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 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.

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

Disease Similarity of
Matching phenotypes Source
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule, Vasculitis in the skin ORPHA:90000
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Gombo Syndrome
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma, Microphthalmia, 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
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... ORPHA:1473
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly ORPHA:2935
Familial Cervical Artery Dissection
Carotid artery tortuosity, Carotid artery dissection, Transient ischemic attack, Subarachnoid hem... ORPHA:36382
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis OMIM:620086
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Penile freckling, Abnormality of th... ORPHA:79145
Darier Disease
Macule, Acrokeratosis, Hypermelanotic macule, Plantar pits, Palmoplantar keratoderma, Skin vesicle ORPHA:218
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... ORPHA:93394
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A OMIM:618498
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Meckel Syndrome, Type 8
Anophthalmia, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Microphthalmia, Hype... OMIM:613885
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly OMIM:615991
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Bardet-Biedl Syndrome 5
Syndactyly, Micropenis, Polydactyly, Brachydactyly OMIM:615983
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Atypical scarring of skin, Polydactyly, Abnormal hip bone morp... ORPHA:294975
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... OMIM:618435
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia OMIM:613618
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, Skin vesicle... ORPHA:79410
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplantar erythema, Ery... ORPHA:64745
Wells Syndrome
Skin vesicle, Vasculitis ORPHA:901
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Leuk... OMIM:221900
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short thumb, Postaxial hand polydactyly, Glandular hypospadias, Short 2nd toe, Short 5th finger OMIM:176305
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Peroxisome Biogenesis Disorder 10A (Zellweger)
Death in infancy, Epicanthus, Cataract, Downslanted palpebral fissures OMIM:614882
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Cherry red spot of the macula, Corneal opacity ORPHA:351
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Telecanthus, Corneal opacity, Unilateral renal agenesis, Development... ORPHA:1064
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis OMIM:620009
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Telecanthus, Developmental glaucoma, Unilateral renal agenesis OMIM:206750
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Cataract, Microcornea, Upslanted palpebral fissure, Microphthalmia ORPHA:2528
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Arthrogryposis, Distal, Type 1B
Foot joint contracture, Rocker bottom foot, Talipes equinovarus, Camptodactyly, Joint contracture... OMIM:614335
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a... ORPHA:93323
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Capillary Malformation-Arteriovenous Malformation 2
Vein of Galen aneurysmal malformation, Capillary malformation, Telangiectasia OMIM:618196
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... ORPHA:2091
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Eales Disease
Peripheral retinal neovascularization, Anterior uveitis, Rhegmatogenous retinal detachment, Trans... ORPHA:40923
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr... ORPHA:324416
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly OMIM:615982
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion... OMIM:206920
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis OMIM:300915
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Hip dysplasia, Talipes equinovarus ORPHA:238578
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:120433
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Arthrogryposis, Distal, Type 7
Metatarsus adductus, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Talipes equinovarus OMIM:158300
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Chorioretinal coloboma, Microphthalmia... ORPHA:195
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:615995
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Gómez-López-Hernández Syndrome
Hydrocephalus, Corneal opacity, Telecanthus ORPHA:1532
Moderate Multiminicore Disease With Hand Involvement
Recurrent patellar dislocation, Intrinsic hand muscle atrophy, Knee dislocation, Distal upper lim... ORPHA:178145
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Coloboma, Microphthalmia, Downslanted palpebral fissures ORPHA:1617
Dermoids Of Cornea
Corneal opacity OMIM:304730
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Umbilical hern... OMIM:614170
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Rocker bottom foot OMIM:616570
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren... OMIM:615993
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Optic nerve dysplasia, Upslanted palpebr... OMIM:214110
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract, Long eyelashes OMIM:190330
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Proboscis Lateralis
Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormali... ORPHA:141099
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninur... OMIM:204000
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... OMIM:611638
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Subcutaneous hemorrhage ORPHA:1980
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... OMIM:152950
Leber Congenital Amaurosis
Encephalocele, Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormal optic disc mo... ORPHA:65
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Meckel Syndrome, Type 9
Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus OMIM:614209
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Spastic Paraplegia 33, Autosomal Dominant
Ankle clonus, Talipes equinovarus OMIM:610244
Pemphigus Foliaceus
Erythema, Erythematous plaque, Serpiginous cutaneous lesion, Annular cutaneous lesion, Scaling sk... ORPHA:79481
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Dermatitis Herpetiformis
Macule, Skin vesicle, Erythema ORPHA:1656
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Ventriculomegaly And Arthrogryposis
Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus OMIM:619501
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Skin ulcer, Congenital localized absence of skin, Aplasia cuti... ORPHA:1114
Erythema Of Acral Regions
Erythema, Talipes equinovarus OMIM:227000
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Optic disc pallor, Cataract, Ectopic kidney, Neonatal death, Microphthalmia, Cy... OMIM:613730
Pyoderma Gangrenosum
Skin vesicle, Atrophic scars, Papule, Skin ulcer ORPHA:48104
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Distal upper limb muscle weakness, Tal... OMIM:619216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Coloboma, Death in childhood, Micro... OMIM:613153
Brittle Cornea Syndrome 1
Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... OMIM:604393
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Trisomy 17P
Hypoplasia of penis, Cataract, Urethral valve, Hydrocephalus, Urethral stenosis, Polycystic kidne... ORPHA:261290
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Corneal opacity, Hypospadias, Dilated cardiomyopathy, Developmental cataract, M... OMIM:618815
Winchester Syndrome
Corneal opacity OMIM:277950
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Corneal opacity, Unilateral renal agenesis ORPHA:281090
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
Familial Multiple Nevi Flammei
Hypermelanotic macule, Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrh... ORPHA:624
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... OMIM:616171
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Arthrogryposis, Distal, Type 2B3
Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Camptodactyly, Overlapping finge... OMIM:618436
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Talipes equinovarus, Upper limb amyotrophy ORPHA:99940
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans, Palmoplantar hyperkeratosis ORPHA:158681
Cataract 42
Cataract, Developmental cataract OMIM:115900
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous s... OMIM:236500
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Optic disc pallor, Portal hypertension, Unilateral renal ... OMIM:216360
Lichen Planus Pemphigoides
Skin vesicle ORPHA:254478
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Mic... OMIM:615665
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... OMIM:312700
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Mmep Syndrome
Microphthalmia, Split foot, Triphalangeal thumb ORPHA:3434
Multiple Acyl-Coa Dehydrogenase Deficiency
Telecanthus, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Developmental ca... OMIM:231680
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract OMIM:619813
Frontofacionasal Dysplasia
Encephalocele, Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, ... ORPHA:1791
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Weaver Syndrome
Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Redundant skin, Larg... ORPHA:3447
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Talipes equinovarus, Peroneal muscle atrophy OMIM:181400
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Nanophthalmos 2
Microphthalmia OMIM:609549
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Joubert Syndrome 20
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Aase-Smith Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal hip bone... ORPHA:916
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... OMIM:114150
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi... OMIM:615297
Acquired Purpura Fulminans
Macule, Erythematous macule, Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prot... ORPHA:49566
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Nephrolithiasis, Cystathioninuria, Talipes equinovarus ORPHA:212
Arthrogryposis, Distal, Type 1C
Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of finger, Elbow... OMIM:619110
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp... OMIM:615145
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Femoral retroversion, Fetal pyelectasis, Knee flexion contr... OMIM:616531
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Retinal Capillary Malformation
Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr... ORPHA:71213
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Heart murmur, Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Distal Triplication 15Q
Telecanthus, Corneal dystrophy, Abnormality of the kidney, Hydrocephalus, Dilatation of the renal... ORPHA:314588
Spastic Paraplegia 64, Autosomal Recessive
Talipes equinovarus OMIM:615683
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow ORPHA:3268
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Epicanthus, Cataract, Chorioretinal coloboma ORPHA:2489
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cofs Syndrome
Abnormality of retinal pigmentation, Death in infancy, Cataract, Optic atrophy, Microphthalmia ORPHA:1466
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Tapered finger, Nephrolithiasis, Vesicoureteral reflux, Hip dysplasia, Talipes equin... OMIM:617219
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Postaxial hand polydactyly, Abnormality of the... ORPHA:3378
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... ORPHA:2633
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Hypospadias ORPHA:141333
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
X-Linked Intellectual Disability, Stocco Dos Santos Type
Epicanthus, Cataract ORPHA:85288
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Moebius Syndrome
Syndactyly, Brachydactyly, Pes planus, Microphthalmia, Split hand, Micropenis, Abnormal pelvic gi... OMIM:157900
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Aplasia cutis congenita, Short dist... OMIM:614814
Porphyria Variegata
Proximal muscle weakness in upper limbs, Neurogenic bladder, Localized skin lesion, Chronic kidne... ORPHA:79473
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus OMIM:208100
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia... OMIM:617927
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Meckel Syndrome, Type 5
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Mic... OMIM:611561
1Q21.1 Microduplication Syndrome
Hip dysplasia, Hip dislocation, Talipes equinovarus, Hypospadias ORPHA:250994
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... OMIM:617610
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Localized sk... ORPHA:449285
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short foot, Small hand, Talipes equinovarus, Hip dislocation OMIM:300434
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Pseudodiastrophic Dysplasia
Elbow dislocation, Talipes equinovarus, Rhizomelia, Phalangeal dislocation ORPHA:85174
Charcot-Marie-Tooth Disease, Type 4H
Small hypothenar eminence, Small thenar eminence, Talipes equinovarus, Distal lower limb muscle w... OMIM:609311
Lambert Syndrome
Hypospadias, Talipes equinovarus OMIM:245550
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Nephronophthisis 15
Polydactyly, Nephronophthisis OMIM:614845
Iga Pemphigus
Skin vesicle, Skin erosion, Skin plaque, Annular cutaneous lesion ORPHA:555905
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Pes cavus, Talipes equinovarus, Upper limb amyotrophy OMIM:617087
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Epicanthus, Keratoglobus, Astigmatism, Blepharo... OMIM:108145
Morm Syndrome
Cataract, Retinal dystrophy, Abnormality of the kidney, Retinal atrophy, Micropenis ORPHA:75858
Arthrogryposis, Distal, Type 2E
Joint contracture of the hand, Foot joint contracture, Talipes equinovarus OMIM:121070
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Epicanthus, Cataract, Ptosis ORPHA:1373
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... OMIM:608470
Emanuel Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, M... OMIM:609029
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Renal cyst, Horseshoe kidney, Ta... OMIM:614815
Meckel Syndrome 13
Occipital encephalocele, Retinopathy, Polycystic kidney dysplasia OMIM:617562
Oculomaxillofacial Dysostosis
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... ORPHA:1794
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Death in infancy, Epicanthus, Tricuspid regurgitation, Cataract, Hypospadia... OMIM:614866
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axi... OMIM:619339
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Summitt Syndrome
Syndactyly OMIM:272350
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Trisomy 1Q
Multicystic kidney dysplasia, Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of fing... ORPHA:261344
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Abnormal chorioretinal morphology, Co... ORPHA:225
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Harel-Yoon Syndrome
Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral fissure, Hypertrophic... OMIM:617183
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Vesicoureteral reflux, Recurrent urinary tract in... OMIM:244600
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... ORPHA:139471
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Upslanted palpebral fissure, Astigmatism, Long palpebral fissure, Microphthalmia, Spars... OMIM:619694
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Frontonasal Dysplasia 1
Epicanthus, Cataract, Anterior basal encephalocele, Coloboma, Cranium bifidum occultum, Microphth... OMIM:136760
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Corneal opacity, Unilateral renal agenesis, Developmental cataract OMIM:616603
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... ORPHA:65759
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Upslanted palpebral fissure, 3-... ORPHA:496790
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Hydrocephalus, Developmental cataract, Abnormal left ventricular function, Car... OMIM:613155
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Nevus flammeus, Comedo ORPHA:64754
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Sialidosis Type 2
Umbilical hernia, Nephropathy, Corneal opacity, Abnormal macular morphology ORPHA:87876
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger, Talipes ORPHA:376
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Pes planus, Elbow flexion contracture, Knee flexion contracture, Talipes equinov... OMIM:600175
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Diastrophic Dysplasia
Hip contracture, Flattened epiphysis, Ulnar deviation of finger, Genu valgum, Irregular epiphyses... OMIM:222600
Cockayne Syndrome Type 3
Microcornea, Lentiglobus, Retinal degeneration, Retinal atrophy, Renal hypoplasia, Cardiomyopathy... ORPHA:90324
Camptodactyly Syndrome, Guadalajara Type 2
Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia, Short 2nd toe, Tali... ORPHA:1326
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Anophthalmia, Chorioretinal d... ORPHA:899
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Say Syndrome
Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cystic renal ... OMIM:181180
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly, Milia OMIM:300484
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Congenital hip dislocation OMIM:164180
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Short middle phalanx of finger, Talipes equinovarus, Micropenis, Brachydactyly OMIM:612626
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Emanuel Syndrome
Hooded eyelid, Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Micropenis, Upslanted ... ORPHA:96170
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia, Ankyloblepharon, Sclerocornea OMIM:611038
Abruzzo-Erickson Syndrome
Epicanthus, Hypospadias, Coronal hypospadias, Abnormal localization of kidney, Microcornea, Colob... ORPHA:921
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chronic kidney disease, Stage 5... ORPHA:3156
Joubert Syndrome 16
Polydactyly, Renal cyst, Nephronophthisis OMIM:614465
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Atrophic scars, Stroke, Ischemic stroke OMIM:182410
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
Temtamy Syndrome
Microphthalmia, Telecanthus, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Ehlers-Danlos Syndrome, Classic Type, 2
Congenital hip dislocation, Talipes equinovarus OMIM:130010
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Schizophrenia 1
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o... OMIM:181510
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Hypospadias, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pup... OMIM:615877
Galactosemia Iv
Cataract OMIM:618881
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Spastic Paraplegia 45, Autosomal Recessive
Talipes equinovarus OMIM:613162
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ap... ORPHA:2538
Prieto Syndrome
Coxa valga, Patellar subluxation, Talipes equinovarus, Radial deviation of finger, Patellar dislo... OMIM:309610
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Upslanted palpebral fissure, Unilateral renal agenesis ORPHA:2512
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Retinal coloboma, Rod-cone dystrophy ORPHA:363741
Hennekam-Beemer Syndrome
Macule, Camptodactyly of finger, Subcutaneous nodule, Erythema, Skin vesicle, Clinodactyly of the... ORPHA:2135
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disease, Hypertension, ... OMIM:166300
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Optic nerve hypoplasia, Hydrocephalus, Renal hypoplas... ORPHA:85284
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Pes planus, Achilles tendon contracture, Decreased patellar re... OMIM:615290
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Warburg Micro Syndrome 1
Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Ptosis OMIM:600118
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... ORPHA:290
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Short palpebral fissure, Blepharophimosis OMIM:601349
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease, Talipes calcaneovalgus OMIM:600251
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration OMIM:607016
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... ORPHA:2788
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Cataract, Optic atrophy OMIM:617255
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb... OMIM:602562
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract, Long eyelashes ORPHA:48431
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Nephronophthisis 14
Retinal degeneration, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous... ORPHA:743
Rhyns Syndrome
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... ORPHA:140976
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Ureteral atresia, Short long bone, Bilateral renal agenesis, Talipes e... OMIM:618845
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Cataract, Death in infancy, Long-chai... OMIM:608836
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Atrophic scars, Milia, Congenital localized absence of skin OMIM:226700
Bardet-Biedl Syndrome 6
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly OMIM:605231
Masa Syndrome
Pes cavus, Talipes equinovarus, Adducted thumb OMIM:303350
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic... OMIM:613390
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Pierson Syndrome
Diffuse mesangial sclerosis, Hypoplasia of the iris, Death in childhood, Hypopigmentation of the ... OMIM:609049
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Pulmonic stenosis, Po... OMIM:615382
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Irregular capital femoral ep... OMIM:616716
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle OMIM:613102
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Short thumb, Hypopigmented skin patches, Palmoplantar... ORPHA:2251
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Abnormality of the kidney, Hydr... ORPHA:93400
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... OMIM:113000
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... OMIM:167730
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Multiple Epiphyseal Dysplasia Type 4
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double-layered patel... ORPHA:93307
Pierpont Syndrome
Telecanthus, Unilateral narrow palpebral fissure, Microcornea, Narrow palpebral fissure, Blepharo... OMIM:602342
Zellweger Syndrome
Death in infancy, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Epicanthu... ORPHA:912
Arthrogryposis, Distal, Type 1A
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... OMIM:108120
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Trisomy X
Clinodactyly of the 5th finger, Hip dysplasia, Multicystic kidney dysplasia, Renal hypoplasia/apl... ORPHA:3375
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Bilateral talipes equinovarus OMIM:616486
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Aplasia cutis congenita of scalp, Dry skin, 3-4 finger syndactyly, 2-3 toe syndactyly OMIM:600906
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia OMIM:615181
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Polysyndactyly With Cardiac Malformation
Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Hepatic cysts OMIM:263630
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Meckel Syndrome, Type 2
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Polydactyly, Microphthalmia OMIM:603194
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased... ORPHA:90354
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Localized skin l... OMIM:300244
Mehmo Syndrome
Hypoplasia of penis, Micropenis, Talipes equinovarus, Tapered finger ORPHA:85282
Autosomal Dominant Hyper-Ige Syndrome
Skin vesicle, Skin ulcer, Papule, Vascular dilatation ORPHA:2314
Temtamy Syndrome
Aortic regurgitation, Highly arched eyebrow, Ectopia lentis, Lens luxation, Chorioretinal colobom... OMIM:218340
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Cataract, Epicanthus, Telecanthus, Unilateral renal agenesis, Palpebral edem... OMIM:181270
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Abnormal optic disc morphology, Decreased corneal thickness, Congenital st... ORPHA:293967
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d... OMIM:204200
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc... OMIM:601389
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia, Hypoplasia of penis ORPHA:66625
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Cataract, Optic atrophy ORPHA:329314
Humero-Radial Synostosis
Aplasia/Hypoplasia affecting the eye, Meningocele, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Death in infancy, Epicanthus, Unilateral renal agenesis, Hydrocephalus, Optic ... OMIM:614576
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Nescav Syndrome
Talipes equinovarus OMIM:614255
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Bartsocas-Papas Syndrome
Corneal opacity, Renal hypoplasia/aplasia, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma,... ORPHA:1234
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Aplasia cutis congenita, Widely spaced toes, Mitten deformity, Clinodacty... OMIM:609638
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Small hand, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Short palm ORPHA:85172
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Genu valgum, Talipes equinovarus, Urinary bladder sphincter dysfun... ORPHA:3115
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... OMIM:615986
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract, Highly arched eyebrow, Ptosis OMIM:616154
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microtriplication 11Q24.1
Keratoconus, Synophrys, Upslanted palpebral fissure, Long eyelashes, Thick eyebrow ORPHA:289522
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydrocephalus, Long eyelashes, Horizontal eyebrow, Hydronephrosis OMIM:609757
8Q21.11 Microdeletion Syndrome
Ptosis, Hypoplasia of penis, Cataract, Corneal opacity, Epicanthus, Sclerocornea, Blepharophimosi... ORPHA:284160
Wagro Syndrome
Cataract, Corneal opacity, Proteinuria, Hypertension, Aniridia, Nephroblastoma, Downslanted palpe... OMIM:612469
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia