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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Internal Carotid Absence
Cerebral ischemia, Dilatation of the cerebral artery, Subarachnoid hemorrhage ORPHA:981
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Mitten deformity, Keloids, Hyperkeratotic papule, Atypical scarring of skin, Localized skin lesio... ORPHA:79410
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Erythema Elevatum Diutinum
Vasculitis in the skin, Skin nodule, Skin vesicle ORPHA:90000
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia, Coloboma OMIM:251505
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb, Talipes equinovarus OMIM:613681
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Hematuria, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacit... ORPHA:1473
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A, Aplasia cutis congenita of scalp OMIM:181250
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Intracranial hemorrhage, Stroke OMIM:105150
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Bardet-Biedl Syndrome 6
Renal cyst, Syndactyly, Hypospadias, Polydactyly OMIM:605231
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly, Hypoplasia of penis ORPHA:2935
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Familial Cervical Artery Dissection
Stroke, Striae distensae, Dilatation of the cerebral artery, Transient ischemic attack, Hypertens... ORPHA:36382
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Brachydactyly, Type A1, C
Bilateral talipes equinovarus, Brachydactyly, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Dowling-Degos Disease
Epidermoid cyst, Digital pitting scar, Hypopigmented macule, Erythematous papule, Skin vesicle, P... ORPHA:79145
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Brachydactyly Type A4
Shortening of all middle phalanges of the toes, Symphalangism affecting the phalanges of the hand... ORPHA:93394
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Darier Disease
Palmoplantar keratoderma, Acrokeratosis, Plantar pits, Macule, Hypermelanotic macule, Skin vesicle ORPHA:218
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Meckel Syndrome, Type 8
Anophthalmia, Polydactyly, Microphthalmia, Postaxial hand polydactyly, Hyperechogenic kidneys, Ta... OMIM:613885
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency, Polydactyly OMIM:615987
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
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Sandal gap, Overlapping fingers, Tapered finger, Broad hallux, Metat... OMIM:618435
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Atypical scarring of skin, Polydactyly, Upper limb phocomelia, Synd... ORPHA:294975
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Phth... ORPHA:91495
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia OMIM:613618
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Familial Benign Chronic Pemphigus
Erythema, Skin vesicle, Skin erosion ORPHA:2841
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Phthisis bulbi, Uveitis, Persistent pupillary membrane, Microcornea, Ca... OMIM:221900
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Ecc... OMIM:613225
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae, Facial erythema, Erythematous plaque, Palmoplantar erythema, Erythematous papul... ORPHA:64745
Immune Thrombocytopenia
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Cerebral hemo... ORPHA:3002
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Glandular hypospadias, Short thumb, Postaxial hand polydactyly, Short 2nd toe OMIM:176305
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Talipes equinovarus, Microphthalmia OMIM:616570
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Preaxial foot polydactyly, Postaxial hand polydactyly, Renal cyst, Bilateral triphalangeal thumbs OMIM:138790
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Unilateral renal agenesis, Developmental glaucoma, Corneal opacity, ... ORPHA:1064
Peroxisome Biogenesis Disorder 10A (Zellweger)
Downslanted palpebral fissures, Death in infancy, Cataract, Epicanthus OMIM:614882
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Cataract, Ptosis, Microphthalmia, Coloboma OMIM:120433
Arthrogryposis, Distal, Type 1B
Contractures involving the joints of the feet, Rocker bottom foot, Camptodactyly, Talipes equinov... OMIM:614335
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Telecanthus, Aniridia, Developmental glaucoma OMIM:206750
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism, Purpura OMIM:614514
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Pr... OMIM:273800
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Microcornea, Cataract, Microphthalmia, Epicanthus ORPHA:2528
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Microphthalmia, Macular atrophy, Retinal dy... OMIM:212550
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Renal dysplasia, Abnormal morphology of ulna,... ORPHA:93323
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Ab... OMIM:173470
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Epistaxis, Retinal vasculitis, Retinal ... ORPHA:40923
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot poly... ORPHA:2091
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-4 finger syndactyly, 2-3 toe syndactyly, Periorbital wrinkles OMIM:227210
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Microphthalmia, Optic disc pallor, Macular atrophy, Optic atr... OMIM:616171
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... ORPHA:52056
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Occipital encephalocele, Retinal dysplasia, Ocular anterior segment dysge... ORPHA:324416
Microphthalmia With Limb Anomalies
Toe syndactyly, Anophthalmia, Single transverse palmar crease, Hand oligodactyly, Postaxial foot ... OMIM:206920
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Cataract, Corneal opacity, Ptosis, Aplasia/Hypoplasia of the iris ORPHA:1067
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Talipes equinovarus, Hip dysplasia ORPHA:238578
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Single transverse palmar crease, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Apla... OMIM:609432
Bardet-Biedl Syndrome 4
Brachydactyly, Renal cyst, Abnormality of the kidney, Polydactyly, Syndactyly OMIM:615982
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Corneal opacity, Optic nerve hypoplasia, Perip... ORPHA:137902
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Arthrogryposis, Distal, Type 7
Hammertoe, Metatarsus adductus, Cutaneous syndactyly of toes, Talipes equinovarus, Hip dislocation OMIM:158300
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Factor Vii Deficiency
Menorrhagia, Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Epistaxis OMIM:227500
Cat-Eye Syndrome
Chorioretinal coloboma, Hydronephrosis, Downslanted palpebral fissures, Abnormal localization of ... ORPHA:195
Wells Syndrome
Skin vesicle ORPHA:901
Moderate Multiminicore Disease With Hand Involvement
Hyporeflexia of upper limbs, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Re... ORPHA:178145
Papillorenal Syndrome
Orbital cyst, Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Reti... OMIM:120330
Peroxisome Biogenesis Disorder 2A (Zellweger)
Upslanted palpebral fissure, Cataract, Optic nerve dysplasia, Epicanthus, Palpebral edema, Death ... OMIM:214110
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Retinal dystrophy, Cataract OMIM:610156
Proboscis Lateralis
Unilateral renal agenesis, Optic nerve hypoplasia, Ptosis, Nasolacrimal duct obstruction, Abnorma... ORPHA:141099
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Dermoids Of Cornea
Corneal opacity OMIM:304730
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment, Death in childhood, Microphthalmia, Coloboma, Hydr... OMIM:613153
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
2Q24 Microdeletion Syndrome
Cataract, Downslanted palpebral fissures, Coloboma, Microphthalmia, Abnormality iris morphology ORPHA:1617
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy, Renal insufficiency OMIM:615995
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Optic nerve misrouting, Foveal hyperpigmentation,... OMIM:609218
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity, Hydrocephalus ORPHA:1532
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly OMIM:610140
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Holoprosencephaly... OMIM:611638
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Cerebral hemorrhage, Subarachnoid hemorrhage, Dilatation of the cerebral artery, Trans... ORPHA:284388
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Talipes equinovarus, Limb undergrowth OMIM:614209
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Subcutaneous hemorrhage ORPHA:1980
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Spastic Paraplegia 33, Autosomal Dominant
Talipes equinovarus, Ankle clonus OMIM:610244
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Talipes equinovarus, Peroneal muscle atrophy OMIM:181400
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Hyperthreoninur... OMIM:204000
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Purpura, Subarachnoid hemorrhage, Melena, Abn... ORPHA:853
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Narrow palpebral fissure, Bilateral microphthalmos, Cataract OMIM:608763
Microphthalmia, Syndromic 13
Coloboma, Microcornea, Microphthalmia, Ptosis OMIM:300915
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Choriocapillaris atrophy OMIM:613835
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigma... OMIM:152950
Nemaline Myopathy 11, Autosomal Recessive
Pes cavus, Talipes equinovarus, Scapular winging, Cardiomyopathy OMIM:617336
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Unilateral renal agenesis, Developmental cataract, Aortic regurgitation OMIM:616603
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Aplasia Cutis Congenita
Toe syndactyly, Congenital localized absence of skin, Finger syndactyly, Aplasia cutis congenita ... ORPHA:1114
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc, Keratoconus, Enceph... ORPHA:65
Dermatitis Herpetiformis
Macule, Erythema, Skin vesicle ORPHA:1656
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Erythema Of Acral Regions
Talipes equinovarus, Erythema OMIM:227000
Ventriculomegaly And Arthrogryposis
Talipes equinovarus, Hand clenching, Ulnar deviation of the wrist OMIM:619501
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Renal cyst, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndact... OMIM:236500
Pyoderma Gangrenosum
Skin ulcer, Papule, Skin vesicle, Atrophic scars ORPHA:48104
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Pemphigus Foliaceus
Annular cutaneous lesion, Erythema, Erythematous plaque, Serpiginous cutaneous lesion, Scaling sk... ORPHA:79481
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Cataract, Polycystic kidney dysplasia, Microcoria, Retinal dystrophy OMIM:263100
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Corneal opacity, Renal insufficiency ORPHA:281090
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Decreased corneal thickness, Epicanthus, Keratoconus OMIM:229200
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Pes cavus, Distal low... OMIM:619216
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Microphth... OMIM:611040
Winchester Syndrome
Corneal opacity OMIM:277950
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Umbilical hern... OMIM:614170
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Long eyelashes, Sclerocornea, Microcornea, Cataract, Microphthalmia, Coloboma, Ecto... OMIM:615877
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Micropenis, Corneal opacity, Hypertrophic cardiom... OMIM:618815
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle ORPHA:158681
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Micro... OMIM:251270
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Congenital Factor Xiii Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Spontaneous hematomas, Abnormal umbili... ORPHA:331
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Developmental cataract, Proximal tub... OMIM:231680
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Upper limb amyotrophy, Talipes equinovarus ORPHA:99940
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Microphthalmia, Retinal fold, Exudati... ORPHA:209956
Cerebral Amyloid Angiopathy, App-Related
Stroke, Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
Mmep Syndrome
Microphthalmia, Triphalangeal thumb, Split foot ORPHA:3434
Bardet-Biedl Syndrome 7
Clinodactyly, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly OMIM:615984
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Mesomelia, Syndactyly OMIM:228940
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Renal cyst, Portal hypertension, Multiple small medu... OMIM:216360
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Microphthalmia, Syndactyly OMIM:610023
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Trisomy 17P
Hydronephrosis, Cataract, Hypoplasia of penis, Ptosis, Broad eyebrow, Downslanted palpebral fissu... ORPHA:261290
Morquio Syndrome C
Corneal opacity OMIM:252300
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Postaxial foot polydactyly, Ap... ORPHA:1113
Frontofacionasal Dysplasia
Absent inner eyelashes, Microcornea, Cataract, Aplasia/Hypoplasia of the eyebrow, Telecanthus, Bl... ORPHA:1791
Hemophilia A
Gastrointestinal hemorrhage, Oral cavity bleeding, Joint hemorrhage, Bleeding with minor or no tr... ORPHA:98878
Weaver Syndrome
Finger syndactyly, Sandal gap, Hypoplasia of penis, Pes cavus, Abnormality of the metaphysis, Bro... ORPHA:3447
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Lichen Planus Pemphigoides
Skin vesicle ORPHA:254478
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Aase-Smith Syndrome
Slender finger, Abnormal hip bone morphology, Camptodactyly of finger, Talipes equinovarus, Aplas... ORPHA:916
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... ORPHA:79
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Microphthalmia, Isolated 6
Microphthalmia, Microcornea, Retinal fold OMIM:613517
Joubert Syndrome 22
Postaxial foot polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Microphthalmia, Postaxial hand ... OMIM:615665
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial hemorr... OMIM:227600
Dysequilibrium Syndrome
Cataract ORPHA:1766
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Morm Syndrome
Micropenis, Cataract, Abnormality of the kidney, Retinal atrophy, Retinal dystrophy ORPHA:75858
Oculoauricular Syndrome
Developmental cataract, Morning glory anomaly, Retinal detachment, Ocular anterior segment dysgen... OMIM:612109
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Arthrogryposis, Distal, Type 2B3
Overlapping fingers, Camptodactyly, Talipes equinovarus, Hallux valgus OMIM:618436
Nanophthalmos 2
Microphthalmia OMIM:609549
Cystathioninuria
Cystathioninuria, Talipes equinovarus, Nephrolithiasis ORPHA:212
Moderate Hemophilia A
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding after dental extraction,... ORPHA:169805
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Opacification of the corneal stroma, Absent eyelashes, Absent eyebrow,... OMIM:308205
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Fetal pyelectasis, Overlapping fingers, Externally rotated hips, Knee flexion contracture, Unilat... OMIM:616531
Camptobrachydactyly
Brachydactyly, Hand polydactyly, Short toe, Urinary incontinence, Congenital finger flexion contr... OMIM:114150
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Lacrimal punctal atresia,... ORPHA:2399
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia, Rod-cone dystrophy, Hydrocephalus, Retinal coloboma OMIM:601794
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Hypoplasia of penis, Keratoconus, Optic atrophy, A... ORPHA:791
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
Retinal Capillary Malformation
Subretinal exudate, Central fundal arteriolar microaneurysms, Retinal exudate, Vitreous hemorrhag... ORPHA:71213
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus OMIM:208100
Acquired Purpura Fulminans
Macular purpura, Macule, Intracranial hemorrhage, Pyoderma gangrenosum, Erythematous macule, Prol... ORPHA:49566
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Epicanthus, Chorioretinal coloboma, Cataract ORPHA:2489
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Papule, Nevus flammeus, Hypermelanotic macule, Skin ulcer, Intrac... ORPHA:624
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow ORPHA:3268
Macular Dystrophy, Corneal
Macular dystrophy, Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the c... OMIM:217800
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Clinodactyly of the 5th finger, Tapered finger, Hydroureter, Talipes equinovarus... OMIM:617219
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Retinal detachment, Ptosis, Ocular anterior segment dysgenesis, Microp... OMIM:615145
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... ORPHA:3250
Joubert Syndrome 20
Renal cyst, Syndactyly, Postaxial polydactyly OMIM:614970
Seckel Syndrome 2
Ectopic kidney, Clinodactyly of the 5th finger, Microphthalmia, Heart murmur, Hypospadias OMIM:606744
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Hypospadias ORPHA:141333
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Moebius Syndrome
Brachydactyly, Clinodactyly, Abnormality of pelvic girdle bone morphology, Micropenis, Pes planus... OMIM:157900
Pseudodiastrophic Dysplasia
Rhizomelia, Talipes equinovarus, Elbow dislocation, Phalangeal dislocation ORPHA:85174
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Aplasia/Hypoplasia of ... OMIM:611377
Trisomy 13
Abnormality of pelvic girdle bone morphology, Abnormality of the ureter, Anophthalmia, Hydronephr... ORPHA:3378
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Severe Hemophilia A
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... ORPHA:169802
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Microphthalmia, Death in infancy, Optic atrophy ORPHA:1466
Spastic Paraplegia 64, Autosomal Recessive
Talipes equinovarus OMIM:615683
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Achilles tendon contracture, Abnormal foot morphology, Knee flexion contracture, Talipes equinova... OMIM:615290
Bardet-Biedl Syndrome 19
Polydactyly, Renal insufficiency OMIM:615996
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... ORPHA:35909
Orofaciodigital Syndrome Xviii
Brachydactyly, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, Short distal ph... OMIM:617927
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Hypoplasia of penis, Abnormality of the upper ... ORPHA:2547
Meckel Syndrome, Type 2
Bowing of the long bones, Renal cyst, Polydactyly, Microphthalmia, Postaxial hand polydactyly, Me... OMIM:603194
Distal Tetrasomy 15Q
Horseshoe kidney, Corneal dystrophy, Hydronephrosis, Dilatation of the renal pelvis, Abnormality ... ORPHA:314588
X-Linked Intellectual Disability, Stocco Dos Santos Type
Epicanthus, Cataract ORPHA:85288
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Lambert Syndrome
Talipes equinovarus, Hypospadias OMIM:245550
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Subarachnoid hemorrhage, Transient ischemic attack, Hyperte... ORPHA:231160
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Vitreous hemorrhage, Tractional retin... ORPHA:90050
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Snakebite Envenomation
Ecchymosis, Stroke, Cardiogenic shock, Gingival bleeding, Erythema, Hypotension, Myocardial infar... ORPHA:449285
Nanophthalmos 4
Microphthalmia OMIM:615972
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal... OMIM:608470
Simpson-Golabi-Behmel Syndrome, Type 2
Clinodactyly, Single transverse palmar crease, Micropenis, Broad palm, Tapered finger, Congenital... OMIM:300209
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Occipital encephalocele, Hydronephrosis, Anencephaly, Micropenis, Retinal dysplasia, ... OMIM:615287
Porphyria Variegata
Proximal muscle weakness in upper limbs, Chronic kidney disease, Increased urinary porphobilinoge... ORPHA:79473
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy OMIM:252650
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Short finger, Short long bone, Ulnar deviation of finge... OMIM:222600
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Camptodactyly Syndrome, Guadalajara Type 2
Patellar hypoplasia, Short 3rd toe, Short 5th toe, Talipes equinovarus, Camptodactyly of finger, ... ORPHA:1326
Arthrogryposis, Distal, Type 5
Keratoglobus, Blepharophimosis, Astigmatism, Abnormality of retinal pigmentation, Ptosis, Epicant... OMIM:108145
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency OMIM:615993
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Arthrogryposis, Distal, Type 2E
Talipes equinovarus, Joint contractures involving the joints of the feet, Joint contracture of th... OMIM:121070
Summitt Syndrome
Syndactyly OMIM:272350
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Cataract, Epicanthus, Ptosis ORPHA:1373
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Pes cavus, Distal lower limb muscle weakness, T... OMIM:609311
Cockayne Syndrome Type 3
Corneal ulceration, Lentiglobus, Unilateral renal agenesis, Hydronephrosis, Subdural hemorrhage, ... ORPHA:90324
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Talipes equinovarus, Hip dislocation, Short foot, Small hand OMIM:300434
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
1Q21.1 Microduplication Syndrome
Talipes equinovarus, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Frontonasal Dysplasia 1
Cranium bifidum occultum, Cataract, Ptosis, Microphthalmia, Coloboma, Epicanthus, Anterior basal ... OMIM:136760
Maternally-Inherited Diabetes And Deafness
Retinopathy, Arrhythmia, Proteinuria, Congestive heart failure, Cataract, Hypertrophic cardiomyop... ORPHA:225
Cousin Syndrome
Hypoplastic ischia, Toe syndactyly, Hypoplastic pubic bone, 4-5 toe syndactyly, 2-3 toe syndactyl... OMIM:260660
Oculomaxillofacial Dysostosis
Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Corneal opacity, Abnormal eyelash... ORPHA:1794
Trisomy 1Q
Toe syndactyly, Long foot, Anophthalmia, Hydronephrosis, Arachnodactyly, Multicystic kidney dyspl... ORPHA:261344
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Abnormal foot morphology, Congenital hip dislocation, Hand clenching, Talipe... OMIM:618291
Meckel Syndrome 13
Occipital encephalocele, Retinopathy, Polycystic kidney dysplasia OMIM:617562
Emanuel Syndrome
Unilateral renal agenesis, Upslanted palpebral fissure, Hooded eyelid, Micropenis, Renal hypoplas... ORPHA:96170
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Spastic Paraplegia 45, Autosomal Recessive
Talipes equinovarus OMIM:613162
Iga Pemphigus
Annular cutaneous lesion, Skin plaque, Skin vesicle, Skin erosion ORPHA:555905
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Joubert Syndrome 18
Camptodactyly, Horseshoe kidney, Polydactyly OMIM:614815
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Nevus flammeus, Comedo ORPHA:64754
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Fatco Syndrome
Finger syndactyly, Abnormality of fibula morphology, Absent hand, Abnormality of tibia morphology... ORPHA:2492
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Arthrogryposis, Distal, Type 1C
Metacarpophalangeal joint contracture, Rocker bottom foot, Clinodactyly of the 5th finger, Knee f... OMIM:619110
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split hand, Split foot DECIPHER:46
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Hypoplasia of the ulna, Renal hypoplasia, Hypoplasia of the radius, Syndactyly OMIM:212780
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Corneal opacity, Antecubital pterygium, Microphthalmia, Axillary pterygium, ... OMIM:619339
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Talipes equinovarus OMIM:616486
Chromosome 15Q26-Qter Deletion Syndrome
Brachydactyly, Micropenis, Short middle phalanx of finger, Talipes equinovarus, Hypospadias OMIM:612626
Gordon Syndrome
Clinodactyly of the 5th finger, Talipes, Finger syndactyly, Camptodactyly of finger ORPHA:376
Orofaciodigital Syndrome Viii
Milia, Syndactyly, Short tibia, Polydactyly OMIM:300484
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Finger syndactyly, Postaxial foot polydactyly, Microphthalmia, Proximal placement o... ORPHA:139471
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Recurrent urinary tract infections, Vesicouretera... OMIM:244600
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Microphthalmia, Macular atrophy, Cystoid macular ... OMIM:267760
Prieto Syndrome
Clinodactyly, Coxa valga, Patellar subluxation, Patellar dislocation, Talipes equinovarus, Radial... OMIM:309610
Say Syndrome
Cystic renal dysplasia, Tapered finger, Ulnar deviation of the 3rd finger, Short distal phalanx o... OMIM:181180
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Microcornea, Hypospadias, Abnormal localization of kidney, Coloboma, Epic... ORPHA:921
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Galactosemia Iv
Cataract OMIM:618881
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polydactyly, Postaxi... ORPHA:380
Walker-Warburg Syndrome
Anophthalmia, Chorioretinal dysplasia, Optic atrophy, Abnormality of the optic nerve, Microcornea... ORPHA:899
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Developmental Delay With Variable Neurologic And Brain Abnormalities
Upslanted palpebral fissure, Sparse lateral eyebrow, Cataract, Astigmatism, Microphthalmia, Long ... OMIM:619694
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Polydactyly, Postaxi... ORPHA:65759
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Fibular duplication, Short fo... OMIM:135750
Joubert Syndrome 14
Renal cyst, Morning glory anomaly, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures,... OMIM:614424
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Sialidosis Type 2
Abnormal macular morphology, Umbilical hernia, Corneal opacity, Nephropathy ORPHA:87876
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Long toe, Pulmonary arterial hypertension, Long fingers, Hypertension, Talipes eq... OMIM:613355
Fanconi Anemia, Complementation Group O
Absent thumb, Renal cyst, Hydronephrosis, Hypoplasia of the radius, Short thumb, Stage 5 chronic ... OMIM:613390
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Congenital hip dislocation OMIM:164180
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia, Ankyloblepharon OMIM:611038
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Abnormality of retinal pigmentation, Cataract, Chronic kidney dis... ORPHA:3156
Nephronophthisis 15
Nephronophthisis, Polydactyly OMIM:614845
Adams-Oliver Syndrome 3
2-3 toe syndactyly, Aplasia cutis congenita, Short distal phalanx of finger, Absent toe, Short me... OMIM:614814
Ehlers-Danlos Syndrome, Classic Type, 2
Talipes equinovarus, Congenital hip dislocation OMIM:130010
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Abnormality of... OMIM:246570
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Temtamy Syndrome
Chorioretinal coloboma, Telecanthus, Microphthalmia, Iris coloboma ORPHA:1777
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Neuronopathy, Distal Hereditary Motor, Type Viii
Elbow flexion contracture, Proximal lower limb amyotrophy, Pes planus, Knee flexion contracture, ... OMIM:600175
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Bresek Syndrome
Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia, Renal dysplasia, Hypoplasia of the blad... ORPHA:85284
Schizophrenia 1
Renal agenesis, Ectopic kidney, Short proximal phalanx of the 4th toe, Partially duplicated kidne... OMIM:181510
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Retinal pigment epithelial atrophy, Macular degeneration... OMIM:270200
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Corneal opacity, Bilateral renal atrophy, Hypertension, Renal insufficiency, Stage 5... OMIM:166300
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Short palm, Small hand ORPHA:85172
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Upslanted palpebral fissure, Vesicoureteral reflux ORPHA:2512
Sneddon Syndrome
Stroke, Hypertension, Cerebral hemorrhage, Ischemic stroke, Atrophic scars OMIM:182410
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Upslanted palpebral fissure, Cataract, Corneal opacity, 3-Methylglutaconic aciduria, Optic nerve ... ORPHA:496790
Hennekam-Beemer Syndrome
Clinodactyly of the 5th finger, Erythema, Papule, Macule, Subcutaneous nodule, Camptodactyly of f... ORPHA:2135
Joubert Syndrome 16
Nephronophthisis, Renal cyst, Polydactyly OMIM:614465
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microphthalmia, Aplasia/Hypoplasi... ORPHA:290
Camptobrachydactyly
Brachydactyly, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulnar deviatio... ORPHA:1319
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Blepharophimosis, Cataract, Death in childhood OMIM:214150
Nescav Syndrome
Talipes equinovarus OMIM:614255
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Ptosis, Microphthalmia, Optic atrophy OMIM:600118
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Upper limb asymmetry, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Microphthalmia, Syndromic 8
Microphthalmia, Microcornea, Short palpebral fissure, Blepharophimosis OMIM:601349
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Metaphyseal irregularity, Sinus tachycardia, Irregular capital femoral epiphys... OMIM:616716
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Abnormal foot morphology, Talipes equinovarus OMIM:613710
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting... ORPHA:83461
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular atrophy, Macular coloboma OMIM:618220
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Macular atrophy, Coloboma OMIM:602499
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Exudative vitreoretinopathy, Corneal opacity, Retinal detachm... ORPHA:2788
Masa Syndrome
Pes cavus, Adducted thumb, Talipes equinovarus OMIM:303350
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Hydrocephalus, Epicanthu... OMIM:614576
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Abnorm... ORPHA:1106
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Mesomelic leg shortening, Localized skin lesion, Mesomelic arm s... OMIM:300244
Pierson Syndrome
Diffuse mesangial sclerosis, Uveal ectropion, Proteinuria, Hypopigmentation of the fundus, Retina... OMIM:609049
Nephronophthisis 14
Nephronophthisis, Retinal degeneration, Polycystic kidney dysplasia OMIM:614844
Mehmo Syndrome
Micropenis, Talipes equinovarus, Tapered finger, Hypoplasia of penis ORPHA:85282
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Joint contracture of the... OMIM:113000
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Thick eyebrow, Corneal opacity, Downslanted palpebral fissures, Long palpebral fissure, Ectropion... OMIM:602562
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Ureteral duplication, Arrhythmia, Hydronephrosis, Catara... OMIM:608836
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Ureteral atresia, Bilateral renal agenesis, Short long bone, Talipes e... OMIM:618845
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Microcornea, Cataract, Long eyelashes ORPHA:48431
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Talipes equinovarus, Upper limb amyotrophy, Knee flexion... ORPHA:496689
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Zellweger Syndrome
Upslanted palpebral fissure, Optic atrophy, Posterior embryotoxon, Hydronephrosis, Cataract, Corn... ORPHA:912
Rhyns Syndrome
Abnormality of long bone morphology, Multicystic kidney dysplasia, Abnormal acetabulum morphology... ORPHA:140976
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Familial Afibrinogenemia
Cerebral hemorrhage, Gingival bleeding, Abnormal bleeding, Epistaxis ORPHA:98880
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Finger syndactyly, Hypopigmented skin patches, Triphalangeal thumb, Sho... ORPHA:2251
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Pes cavus, Urinary bladder sphincter dysfunction, Talipes equinova... ORPHA:3115
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Retinal degeneration, Aortic regurgitation OMIM:607016
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Micropenis, Congenital stationary night blindness, Decreased corneal thickness, Highly arched eye... ORPHA:293967
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cataract, Cystic renal dysplasia, Abnormality of the kidney OMIM:613730
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Epicanthus, Ptosis, Downslanted palpebral fissures, Opacification of the... OMIM:614230
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Microgastria-Limb Reduction Defect Syndrome
Renal agenesis, Anophthalmia, Horseshoe kidney, Phocomelia, Crossed fused renal ectopia, Aplastic... ORPHA:2538
Polysyndactyly With Cardiac Malformation
Renal cyst, Duplication of phalanx of hallux, Preaxial hand polydactyly, Hepatic cysts, Syndactyly OMIM:263630
Pierpont Syndrome
Unilateral narrow palpebral fissure, Micropenis, Microcornea, Blepharophimosis, Microphthalmia, N... OMIM:602342
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Microtriplication 11Q24.1
Upslanted palpebral fissure, Long eyelashes, Thick eyebrow, Synophrys, Keratoconus ORPHA:289522
Oligomeganephronia
Branchial cyst, Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased... ORPHA:2260
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Hammertoe, Pes cavus, Talipes equinovarus, Split hand OMIM:604563
Arthrogryposis, Distal, Type 1A
Single transverse palmar crease, Absent distal interphalangeal creases, Calcaneovalgus deformity,... OMIM:108120
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle OMIM:613102
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Congenital Sialidosis Type 2
Cherry red spot of the macula, Developmental cataract, Petechiae, Hypoplasia of the fovea, Abnorm... ORPHA:93400
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Cataract, Optic atrophy ORPHA:329314
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Buphthalmos OMIM:269400
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly, Hypoplasia of penis ORPHA:66625
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy, Hydrocephalus OMIM:613154
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Portal hypertension, Pancreatic cysts, Developmental glaucoma, Polycystic kidney dysp... OMIM:610199
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract, Ptosis, Highly arched eyebrow OMIM:616154
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... ORPHA:1988
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Dermatoglyphic ridges abnormal, Small thenar eminence, Small hypothenar eminence, Camptodactyly, ... OMIM:211960
Brittle Cornea Syndrome
Bruising susceptibility, Corneal scarring, Corneal dystrophy, Keratoglobus, Retinal detachment, D... ORPHA:90354
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis