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Gene: Grip1 MGI:1921303

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

glutamate receptor interacting protein 1

Synonyms:

4931400F03Rik, eb

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Grip1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Grip1 (2 diseases)
Human diseases predicted to be associated with Grip1 (2243 diseases)

The table below shows human diseases associated to Grip1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Fraser Syndrome		Finger syndactyly, Hypoplasia of penis, Anophthalmia, Toe syndactyly, Multicystic kidney dysplasi...	ORPHA:2052
Fraser Syndrome 3		Hypoplasia of the bladder, Hypoplasia of penis, Short toe, Cutaneous syndactyly, Ureteral agenesi...	OMIM:617667

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

Disease	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
Megalocornea	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
Galactosialidosis	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
Vitreoretinochoroidopathy	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
Trichomegaly	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
Camptobrachydactyly	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
Cystathioninuria	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
Camptobrachydactyly	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
Ectrodactyly-Polydactyly	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	Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hip dis...	OMIM:613330
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Retinal detachment, Cataract, Optic nerve hypoplasia, Hydrocephalus, Opt...	ORPHA:370959
Nail-Patella Syndrome	Keratoconus, Ptosis, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Spina bifida...	OMIM:161200
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Developmental cata...	ORPHA:335
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly	OMIM:613819
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Hypospadias, Blepharophimosis, Optic atrophy, Astigmatism, Chorioretinal coloboma, Pe...	ORPHA:494344
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Hydrocephalus, Optic atrophy, Muc...	ORPHA:585
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul...	OMIM:184260
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Hydrocephalus, Bilateral renal hypoplasia, Microc...	OMIM:243605
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Dermatoglyphic ridges abnormal, Small thenar eminence, Talipes equinov...	OMIM:211960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Retinal dysplasia	OMIM:615041
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract, Retinal dystrophy	OMIM:610156
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Congenital Myopathy 24	Scapular winging, First degree atrioventricular block, Cardiomyopathy, Talipes equinovarus, Pes c...	OMIM:617336
Femoral-Facial Syndrome	Short femur, Renal hypoplasia/aplasia, Long penis, Abnormal fibula morphology, Coxa vara, Abnorma...	ORPHA:1988
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy, Cataract, Death in infancy	OMIM:616647
Burn-Mckeown Syndrome	Unilateral renal agenesis, Lower eyelid coloboma, Renal hypoplasia, Blepharophimosis, Short palpe...	OMIM:608572
Neurofaciodigitorenal Syndrome	Epicanthus, Corneal dystrophy, Unilateral renal agenesis, Downslanted palpebral fissures, Ptosis	ORPHA:2673
Microphthalmia, Syndromic 5	Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, Microcornea, Coloboma, Microph...	OMIM:610125
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Cataract	ORPHA:2278
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Opt...	ORPHA:2260
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Pierpont Syndrome	Microcornea, Narrow palpebral fissure, Telecanthus, Microphthalmia	ORPHA:487825
Mosaic Trisomy 1	Single transverse palmar crease, Renal cyst, Finger clinodactyly, Micropenis, Absent distal inter...	ORPHA:1692
Charcot-Marie-Tooth Disease, Type 4B2	Split hand, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus	OMIM:604563
Arima Syndrome	Ptosis, Proteinuria, Polyuria, Retinal dystrophy, Optic atrophy, Stage 5 chronic kidney disease, ...	OMIM:243910
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Highly arched eyebrow, Unilateral renal agenesis, Upslanted palpebra...	OMIM:618142
Renal Tubular Dysgenesis	Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis, Bilateral single...	ORPHA:3033
Sweet Syndrome	Skin nodule, Dilated cardiomyopathy, Pyoderma gangrenosum, Erythematous plaque, Skin vesicle, Sma...	ORPHA:3243
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Anophthalmia Plus Syndrome	Deviation of finger, Anophthalmia	ORPHA:1104
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Epicanthus, Unilateral renal agenesis, Renal hypoplasia, Microphthalmia, Hydronephrosis	OMIM:618494
Hyperekplexia 4	Adducted thumb, Talipes equinovarus, Camptodactyly	OMIM:618011
Joubert Syndrome 14	Encephalocele, Epicanthus, Highly arched eyebrow, Morning glory anomaly, Hydrocephalus, Meningoce...	OMIM:614424
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Calf muscle hypertrophy, Dilated cardiomyopathy, Reduced systolic function, Talipes equinovarus	OMIM:616827
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus	OMIM:601382
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Renal malrotation, Lacrimal duct stenosis, Unilateral renal ag...	OMIM:113650
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract, Ptosis	ORPHA:1875
Joubert Syndrome 24	Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus	OMIM:616654
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Developmenta...	OMIM:620185
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Epicanthus, Cataract, Retinal pigment epithelial mottling...	OMIM:614105
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Pontocerebellar Hypoplasia, Type 12	Talipes equinovarus, Overlapping fingers, Rocker bottom foot	OMIM:618266
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Coloboma, Shallow orbits, Microphthalmia	OMIM:617306
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Chopra-Amiel-Gordon Syndrome	Almond-shaped palpebral fissure, Upslanted palpebral fissure, Unilateral renal agenesis	OMIM:619504
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ...	ORPHA:166024
Juvenile Xanthogranuloma	Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis	ORPHA:158000
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Abnormality of thumb phalanx, ...	ORPHA:1553
Alagille Syndrome	Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Renal hypoplasia/aplasia, Abnormal pu...	ORPHA:52
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	Abnormal finger morphology, Bilateral talipes equinovarus	ORPHA:2560
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Cataract	OMIM:614876
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Epicanthus, Portal hypertension, Pancreatic cysts, Developmental glaucoma, Renal cyst, Buphthalmo...	OMIM:610199
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Joint con...	OMIM:618914
Inverted Duplicated Chromosome 15 Syndrome	Epicanthus, Synophrys, Downslanted palpebral fissures, Unilateral renal agenesis	ORPHA:3306
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Talipes equinovarus	OMIM:611067
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Nevus	ORPHA:398189
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Cataract, Epicanthus, Displacement of the urethral meat...	ORPHA:2377
Hajdu-Cheney Syndrome	Epicanthus, Telecanthus, Hypospadias, Hydrocephalus, Synophrys, Renal cyst, Long eyelashes, Polyc...	OMIM:102500
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma, Uraciluria, Optic atrophy	OMIM:274270
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydronephrosis, Redundant skin	ORPHA:251046
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli...	OMIM:614091
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Vesicoureteral reflux, Hypospadias, Spina bifida, Renal hypoplasia, M...	ORPHA:567
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Upslanted ...	ORPHA:401777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, R...	OMIM:236670
Cockayne Syndrome	Urinary incontinence, Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Retinal...	ORPHA:191
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Talipes equinovarus	OMIM:613710
Renal Hypoplasia	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ...	ORPHA:93101
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Preauricular pit, Syndactyly, Hyperpigmented papule, Osteolysis involving bones of the upper limb...	ORPHA:88630
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Renal hypoplasia, Short foo...	ORPHA:264200
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger...	ORPHA:959
Braddock Syndrome	Blepharophimosis, Pulmonary arterial hypertension, Epicanthus, Unilateral renal agenesis	ORPHA:52047
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Talipes equinovarus, Upper limb amyotrophy, Knee flexion...	ORPHA:496689
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Bardet-Biedl Syndrome 19	Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi...	OMIM:615996
Hogue-Janssen Syndrome 2	Hydrocephalus, Downslanted palpebral fissures, Unilateral renal agenesis	OMIM:616362
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, I...	OMIM:169550
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Hypoplasia of t...	OMIM:212780
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Lethal Congenital Contracture Syndrome 11	Flexion contracture of finger, Elbow flexion contracture, Camptodactyly, Bilateral talipes equino...	OMIM:617194
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo...	ORPHA:53719
Hypomelanosis Of Ito	Syndactyly, Macular hypopigmented whorls, streaks, and patches, Hand polydactyly, Radial deviatio...	OMIM:300337
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microp...	ORPHA:85194
Nance-Horan Syndrome	Microcornea, Microphthalmia, Retinal detachment, Cataract	ORPHA:627
Neurooculocardiogenitourinary Syndrome	Epicanthus, Tricuspid regurgitation, Coloboma, Peters anomaly, Microphthalmia	OMIM:618652
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Syndactyly, Nephroblastoma, Polydactyly	OMIM:602501
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Cataract, Narrow palpebral fissure, Astigmatism, Retinal coloboma, Horizontal eyebrow...	OMIM:618571
Multiple Synostoses Syndrome 2	Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equinovarus, Carpal syn...	OMIM:610017
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Hydrocephalus, Coloboma, Microphthalmia, Retinal degeneration	OMIM:615249
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h...	OMIM:615994
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Cerebrooculofacioskeletal Syndrome 2	Cataract, Developmental cataract, Death in childhood, Microphthalmia, Micropenis	OMIM:610756
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio...	OMIM:605432
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu...	ORPHA:1909
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopathy, Renal hypoplasia, Mi...	OMIM:616541
Microphthalmia, Lenz Type	Cataract, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Optic disc coloboma, Ankyloblepharo...	ORPHA:568
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Refsum Disease	Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Heart block, Cardiomyopathy, ...	ORPHA:773
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Split hand, Talipes equinovarus	OMIM:607831
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Cataract, Renal agenesis, Nasolacrimal duct obstruction, Microcorne...	ORPHA:1297
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Flexion contracture of finger, Bilateral talipes equinovarus, Hand clenching, Congenital knee dis...	ORPHA:319332
Linear Verrucous Nevus Syndrome	Cataract, Abnormality of the kidney, Abnormal cornea morphology, Retinopathy, Iris coloboma, Apla...	ORPHA:2611
Ophthalmoplegia, External, And Myopia	Chorioretinal degeneration, Retinal degeneration, Spina bifida, Ptosis	OMIM:311000
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Hypospadias, Unilat...	ORPHA:464311
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Joubert Syndrome 7	Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge...	OMIM:611560
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Cataract, Ptosis	ORPHA:893
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Hydrocephalus, Holoprosencephaly, M...	ORPHA:77298
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology, Sparse lateral eyebrow	ORPHA:170
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, Polycystic ovaries	ORPHA:1643
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Renal cyst	OMIM:614870
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Bardet-Biedl Syndrome 3	Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Spastic Paraplegia 55, Autosomal Recessive	Talipes equinovarus	OMIM:615035
Acute Generalized Exanthematous Pustulosis	Skin vesicle, Renal insufficiency, Scaling skin, Purpura	ORPHA:293173
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Dyskeratosis Congenita	Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Urethral stenosis, Hypopigmented s...	ORPHA:1775
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis, Multicystic kidney dysplasia	ORPHA:3270
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnorma...	OMIM:256050
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Unilateral renal agenesis	OMIM:601355
Dihydropyrimidinase Deficiency	Uraciluria, Short phalanx of finger, Talipes equinovarus	OMIM:222748
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph...	ORPHA:209956
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Posterior embryotoxon, Hydroureter, Epicanthus, Unilateral renal agenesis, Hypoplasia of the iris...	OMIM:619194
Hydrolethalus	Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Micromelia	ORPHA:2189
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
17Q12 Microduplication Syndrome	Microphthalmia, Finger syndactyly, Toe syndactyly	ORPHA:261272
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Cataract, Downslanted palpebral fissures	ORPHA:3433
Long Qt Syndrome 8	Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo...	OMIM:618447
Alg2-Cdg	Epicanthus, Cataract, Downslanted palpebral fissures, Iris coloboma	ORPHA:79326
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Cataract, Corneal opacity, Increased urinary O-...	ORPHA:812
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia	ORPHA:2470
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena...	OMIM:614175
Joubert Syndrome 9	Encephalocele, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Astigmatism	OMIM:612285
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Charcot-Marie-Tooth Disease Type 4A	Limited interphalangeal movement, Hand muscle weakness, Limited wrist movement, Abnormal foot mor...	ORPHA:99948
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Hypopigmented skin pat...	ORPHA:1825
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Bilateral talipes equinovarus, Patellar subluxation, Coxa valga	ORPHA:2958
Acrodysostosis 1 With Or Without Hormone Resistance	Epicanthus, Unilateral renal agenesis, Hydrocephalus, Optic atrophy, Blue irides	OMIM:101800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticomedullary differ...	OMIM:263200
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis	ORPHA:1259
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Elbow flexion contracture, Ulnar deviation of finger, Knee flexion ...	OMIM:277720
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformity, Camptoda...	OMIM:609128
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cataract, Septo-optic dysplasia, Hydrocephalus, Optic atrophy, Micr...	ORPHA:3301
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Primary Angiitis Of The Central Nervous System	Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis	ORPHA:140989
Myopathic Ehlers-Danlos Syndrome	Pes planus, Foot joint contracture, Shoulder flexion contracture, Ankle flexion contracture, Tape...	ORPHA:536516
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped ...	OMIM:229400
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Hip dysplasia, Areflexia of lower limbs, Tal...	OMIM:611890
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr...	ORPHA:97339
Gillessen-Kaesbach-Nishimura Syndrome	Telecanthus, Epicanthus, Polycystic kidney dysplasia	OMIM:263210
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Laurence-Moon Syndrome	Micropenis, Polydactyly, Abnormality of the hand	OMIM:245800
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthal...	OMIM:613001
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi...	OMIM:613091
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Unilateral renal agenesis	OMIM:235740
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Nanophthalmos	Microphthalmia	ORPHA:35612
Epidermal Nevus Syndrome	Astigmatism, Polycystic kidney dysplasia	ORPHA:35125
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephri...	ORPHA:91500
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Micropenis, Chorioretinal coloboma, Long palpebral fissure, Mi...	OMIM:243310
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Hip dislocation, Talipes equinovarus	OMIM:616756
Adams-Oliver Syndrome 2	Hydrocephalus, Optic atrophy, Developmental cataract, Narrow palpebral fissure, Microphthalmia	OMIM:614219
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Cataract, Corneal opacity, Ectropion, Ocular albinism, Abnormality of the urin...	ORPHA:2719
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Ulnar claw, Hammertoe, Pes cavus, Talipes equinovarus	OMIM:608340
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Portal hypertension, Renal hypoplasia, Foot oligodactyly, Br...	OMIM:616589
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Hypertrophic cardiomyopathy, Cataract, Downslanted palpebral fissures	ORPHA:3173
Campomelia, Cumming Type	Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Pancreatic cysts, Clubbing of...	ORPHA:1318
Distal Duplication 6P	Cataract, Abnormal eyelash morphology, Renal hypoplasia, Abnormality of the urinary system, Bleph...	ORPHA:1745
Bardet-Biedl Syndrome 8	Hypospadias, Postaxial polydactyly	OMIM:615985
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Hypospadias, Congestive heart failure, Microcornea, Microphthalmia, Umbilical hernia,...	ORPHA:2505
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Epicanthus, Cataract, Oligosacchariduria, Long palpebral fissure, Microphthal...	ORPHA:163649
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Microcornea, Microphthalmia,...	ORPHA:2712
Nail-Patella Syndrome	Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes calcaneovalgus...	ORPHA:2614
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Talipes equinovarus, Short palm, Clinodactyly	ORPHA:85279
Knobloch Syndrome 1	Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Renal duplication, ...	OMIM:267750
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Frontorhiny	Encephalocele, Epicanthus, Cataract, Basal encephalocele, Cranium bifidum occultum, Microphthalmi...	ORPHA:391474
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Martsolf Syndrome 1	Pes planus, Short metacarpal, Cardiac arrest, Metatarsus adductus, Slender ulna, Short toe, Osteo...	OMIM:212720
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori...	ORPHA:790
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectas...	OMIM:620157
Wildervanck Syndrome	Meningocele, Lens subluxation, Pseudopapilledema	ORPHA:3456
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypoplasia, Radioulnar sy...	ORPHA:1788
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced...	OMIM:619902
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Abnormality of the kidney, Cherry red spot of the macula, Optic atroph...	ORPHA:93399
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Highly arched eyebrow, Sparse eyebrow, Synophrys, Optic a...	OMIM:616737
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero...	OMIM:203780
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proximal phalanges, Wi...	OMIM:108721
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myoc...	ORPHA:182050
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract	OMIM:273680
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis	OMIM:602400
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Unilateral Ocular Duplication	Encephalocele, Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimo...	ORPHA:3374
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Lcat Deficiency	Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disease, Acute kidney i...	ORPHA:650
Verheij Syndrome	Renal agenesis, Optic nerve hypoplasia, Hip dislocation, Renal hypoplasia, Renal cyst, Short 5th ...	OMIM:615583
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu...	OMIM:610205
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather...	ORPHA:280679
Intermediate Uveitis	Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate...	ORPHA:279914
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Cataract, 3-Methylglutaconic aciduria, Iris hypopigmentation	ORPHA:67048
Short Syndrome	Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the...	ORPHA:3163
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Polydactyly	OMIM:607361
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Cataract, Optic atrophy	OMIM:615191
Charlie M Syndrome	Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly	ORPHA:1406
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C...	OMIM:601680
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P...	OMIM:175700
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Refsum Disease, Classic	Cataract, Congestive heart failure, Rod-cone dystrophy, Cardiomyopathy, Arrhythmia, Retinal degen...	OMIM:266500
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Telecanthus, Corneal opacity, Hypospadias, Optic nerve hypoplasia, ...	OMIM:301056
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Nevus flammeus, Polydactyly, Upper limb asymmetry	ORPHA:231140
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney, Upslanted palpeb...	OMIM:613680
Meckel Syndrome, Type 4	Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly, Renal cyst	OMIM:611134
Oculocerebrocutaneous Syndrome	Corneal opacity, Hydrocephalus, Eyelid coloboma, Iris coloboma, Ptosis	ORPHA:1647
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Shashi-Pena Syndrome	Epicanthus, Highly arched eyebrow, Unilateral renal agenesis, Synophrys, Long eyelashes, Ptosis	OMIM:617190
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Warburg Micro Syndrome 3	Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Blepharop...	OMIM:614222
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Muscle-Eye-Brain Disease	Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Warburg Micro Syndrome 4	Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Micropenis, Ptosis	OMIM:615663
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui...	ORPHA:99828
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ...	ORPHA:849
X-Linked Immunoneurologic Disorder	Cataract, Functional abnormality of the bladder	ORPHA:2571
Coloboma Of Macula With Type B Brachydactyly	Coloboma, Renal agenesis	OMIM:120400
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Hydrocephalus, Enuresis, Narrow palpebral fissure, Astigm...	ORPHA:96121
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Oligosacchariduria	ORPHA:309288
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ...	ORPHA:542306
Hurler-Scheie Syndrome	Cardiomyopathy, Corneal opacity	ORPHA:93476
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Grange Syndrome	Aortic regurgitation, Syndactyly, Hypertension, Short palm	ORPHA:79094
Cystinosis	Renal insufficiency, Corneal opacity, Proteinuria, Portal hypertension, Renal tubular dysfunction...	ORPHA:213
Anencephaly 2	Anophthalmia	OMIM:619452
Meckel Syndrome, Type 1	Occipital encephalocele, Hypoplasia of the bladder, Renal agenesis, Large placenta, Hydrocephalus...	OMIM:249000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Yellow papule, Premature occ...	OMIM:177850
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Death in childhood	OMIM:618961
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Corneal opacity, Hypospadias, Unilateral renal agenesis,...	ORPHA:464306
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Abnormal renal morph...	OMIM:609053
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Cataract, Reduced systolic function	OMIM:618805
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Epicanthus inversus, Horseshoe kidney, Blepharophimosis, ...	OMIM:248340
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Elbow...	OMIM:617468
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Heart murmur	ORPHA:1867
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ureteral stenosis, Single transverse palmar crease, Rock...	OMIM:272950
Charcot-Marie-Tooth Disease Type 4G	Abnormality of the hand, Abnormal foot morphology, Upper limb amyotrophy, Distal upper limb muscl...	ORPHA:99953
Nager Syndrome	Sparse lower eyelashes, Unilateral renal agenesis, Lower eyelid coloboma, Downslanted palpebral f...	ORPHA:245
Monosomy 5P	Preauricular skin tag, Finger syndactyly, Small hand	ORPHA:281
Galactose Epimerase Deficiency	Aminoaciduria, Cataract	ORPHA:79238
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Limited elbow movement, Broad palm, Cardiomyopathy, Mi...	OMIM:300280
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Hypopl...	OMIM:300863
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Pigmentary retinopathy, Microphthalmia, Micropenis, Downslant...	OMIM:614230
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital finger flexion con...	ORPHA:1154
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,...	ORPHA:93267
Neurooculorenal Syndrome	Iris atrophy, Hypoplasia of the bladder, Unilateral renal agenesis, Highly arched eyebrow, Aquedu...	OMIM:620305
Prune Belly Syndrome	Multicystic kidney dysplasia, Congenital hip dislocation, Renal insufficiency, Hydroureter, Recur...	ORPHA:2970
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Congenital Disorder Of Glycosylation, Type Iih	Finger clinodactyly, Talipes equinovarus, Clinodactyly of the 3rd toe, Bilateral coxa valga, Clin...	OMIM:611182
Kury-Isidor Syndrome	Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino...	OMIM:619762
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Highly arched eyebrow, Unilateral renal agenesis, Hydrocephalus, Vesicoureteral reflux, Micropeni...	OMIM:619951
Brachyolmia Type 1, Toledo Type	Increased urinary disaccharide excretion, Opacification of the corneal stroma	OMIM:271630
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Downslanted palpebral fissures, Iris coloboma	ORPHA:251038
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, 1-4 toe syndactyly, 4-5 fing...	OMIM:617201
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c...	OMIM:611773
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t...	ORPHA:94080
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Mitral...	ORPHA:1101
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Single transverse palmar crease, Renal hypoplasia, Microphthalmia, Hypertrophic cardio...	OMIM:619053
Spastic Paraplegia 47, Autosomal Recessive	Pes planus, Acetabular dysplasia, Genu recurvatum, Talipes equinovarus	OMIM:614066
Nanophthalmos 4	Microphthalmia	OMIM:615972
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ...	ORPHA:363444
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Optic atrophy, Abnormal local...	ORPHA:2510
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis, Abnormally large globe	OMIM:618504
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Baralle-Macken Syndrome	Upslanted palpebral fissure, Cataract, Urinary incontinence	OMIM:619255
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Corneal opacity, Telangiectasia of the skin, Spina bifida, Ectopia ...	ORPHA:2092
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Ecchymosis, Internal hem...	ORPHA:99827
Charcot-Marie-Tooth Disease, Type 4B3	Pes planus, Syndactyly, Distal lower limb muscle weakness, Urinary incontinence	OMIM:615284
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Hyperpigmented nevi and streak	OMIM:149000
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand muscle weakness, Split ha...	ORPHA:101097
Camptodactyly Syndrome, Guadalajara Type 1	Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, Synophrys, Microcornea, Blepharophi...	ORPHA:1327
Alpha-Mannosidosis	Cataract, Corneal opacity	ORPHA:61
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Coloboma, Cataract, Optic atrophy	OMIM:612379
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Fetal megacystis...	ORPHA:73246
Leptospirosis	Papilledema, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Retinal h...	ORPHA:509
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Abnormal foot morphology, Abnormality of the ureter, Sho...	OMIM:180860
Tempi Syndrome	Intracranial hemorrhage, Telangiectasia, Facial erythema	ORPHA:284227
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,...	ORPHA:2256
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Congestive heart failure, Glutaric aciduria, Lacticaciduria, Cardiomyopathy, 3-Methy...	ORPHA:26791
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l...	ORPHA:2363
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Sandestig-Stefanova Syndrome	Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, Microphtha...	OMIM:618804
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Areflexia of lower limbs, Talipes equinovarus	OMIM:616155
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Mesoaxial foot po...	OMIM:146510
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
Warburg-Cinotti Syndrome	Epicanthus, Retinal dystrophy, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficienc...	OMIM:618175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Retinal detachment, Cataract, Remnants of the hyaloid vascular s...	OMIM:614643
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias	ORPHA:1381
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney diseas...	OMIM:208500
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Mevalonic Aciduria	Cataract, Downslanted palpebral fissures	ORPHA:29
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Geographic atrophy, Synophrys, Ce...	OMIM:619260
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Polydactyly, Hypoplastic ischia	OMIM:616910
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Small hand, Talipes equinovarus, Camptodactyly, Clinodactyly	OMIM:619980
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Myopic astigmatism, Developmental cataract, Facial telangiectasia, Pulmonic ste...	OMIM:620141
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar deviation of t...	OMIM:618291
Triploidy	Hypoplasia of penis, Cataract, Hypospadias, Hydrocephalus, Meningocele, Holoprosencephaly, Aplasi...	ORPHA:3376
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy...	ORPHA:1345
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Talipes equinovarus	OMIM:614399
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Micro...	OMIM:278730
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Congenital posterior urethral valve, Talipes equinovarus...	OMIM:100100
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Pontocerebellar Hypoplasia, Type 16	Recurrent urinary tract infections, Cataract, Optic atrophy, Ptosis	OMIM:619527
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Cataract, Hypospadias, Microcornea, Microphthalmia, Pulmonary arterial hypertension, ...	OMIM:616449
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Pulmonary arterial hypertension	OMIM:300887
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Renal dysplasia, Absent eyebrow, Multicystic kidney dysplasia, Death in infancy, Hypospadias, Ren...	OMIM:308205
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Femoral bowing, Hypertrophic cardiomyopathy, Talipes equinovarus, Pulmonic stenosi...	OMIM:615415
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn...	OMIM:602499
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Abnormal optic chiasm morphology, Recurrent urinary tract infections, Catar...	ORPHA:268261
Familial Dysautonomia	Glomerulopathy, Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormality of the kidney,...	ORPHA:1764
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha...	OMIM:201170
Hartsfield Syndrome	Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand	ORPHA:2117
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Talipes, Postaxial polydactyly, Po...	OMIM:619879
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Flexion contracture of finger, Bilateral talipes equinovarus, Talipes equinovarus, Adducted thumb	OMIM:618484
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Arachnodactyly, Mitral regurgitation, Bilateral talipes equinovarus, Talipes equinovarus, Camptod...	OMIM:615539
Acrofrontofacionasal Dysostosis 2	Syndactyly, Sacral dimple, Redundant neck skin, Broad hallux, Hypospadias, Hand polydactyly, Broa...	OMIM:239710
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, Microphthalmia, Ptosis	OMIM:614583
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Multiple renal cysts	ORPHA:2924
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Talipes equinovarus, Toe clinodactyly, Clinodactyly of the ...	ORPHA:251019
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Ami...	ORPHA:414
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Meckel Syndrome	Ureteral duplication, Bowing of the long bones, Anophthalmia, Multicystic kidney dysplasia, Talip...	ORPHA:564
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Hypertension, Polycystic kidn...	OMIM:618061
Hec Syndrome	Communicating hydrocephalus, Abnormal retinal vascular morphology, Abnormal pupil morphology, Dev...	ORPHA:2119
Jacobsen Syndrome	Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morphology, Hydrocephalus, Optic atrophy, ...	OMIM:147791
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Cataract, Hydrocephalus, Abnormal pupil morpholo...	ORPHA:2969
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Vitamin K Antagonist Embryofetopathy	Cataract, Myelomeningocele, Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia affecting the eye	ORPHA:1914
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Meningocele, Renal cyst, Chorioretinal coloboma, Blepharophimosis, ...	ORPHA:2031
Mosaic Trisomy 9	Hypoplasia of penis, Corneal opacity, Spina bifida, Horseshoe kidney, Hydronephrosis, Upslanted p...	ORPHA:99776
Ring Chromosome 10 Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Sandal gap, Tapered finger	ORPHA:1438
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Joubert Syndrome 15	Micropenis, Preaxial polydactyly, Nephronophthisis	OMIM:614464
X-Linked Dominant Chondrodysplasia Punctata	Lower limb asymmetry, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiph...	ORPHA:35173
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Pallor	ORPHA:3226
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta...	OMIM:615184
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Congenital Myopathy 20	Scapular winging, Ulnar deviation of the hand, Toe joint contracture, Hip dislocation, Talipes eq...	OMIM:620310
Rahman Syndrome	Redundant skin, Talipes equinovarus, Camptodactyly	OMIM:617537
Myasthenic Syndrome, Congenital, 24, Presynaptic	Knee flexion contracture, Abnormal foot morphology, Talipes equinovarus, Camptodactyly	OMIM:618198
Parkinson Disease 15, Autosomal Recessive Early-Onset	Talipes equinovarus	OMIM:260300
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormal iliac wing mo...	ORPHA:3027
Fish-Eye Disease	Angina pectoris, Corneal opacity	ORPHA:79292
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,...	OMIM:615989
Retinitis Pigmentosa 51	Polydactyly, Pallor	OMIM:613464
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of...	ORPHA:96125
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Subconjunctival hemorrhage, ...	ORPHA:464329
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
Senior-Loken Syndrome 8	Global glomerulosclerosis, Stage 5 chronic kidney disease, Polydactyly, Pallor, Nephronophthisis	OMIM:616307
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Phelan-Mcdermid Syndrome	Epicanthus, Palpebral edema, Abnormality of the kidney, Long eyelashes, Polycystic kidney dysplas...	OMIM:606232
Hurler-Scheie Syndrome	Aortic regurgitation, Corneal opacity, Heparan sulfate excretion in urine, Dermatan sulfate excre...	OMIM:607015
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Epicanthus, Cataract, Hypospadi...	OMIM:270400
Lowry-Maclean Syndrome	Corneal opacity, Hypospadias, Developmental glaucoma, Hydrocephalus, Megalocornea, Downslanted pa...	ORPHA:2409
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney, Radial dysplasia, Absent thumb	OMIM:617244
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Cataract, Telangiectasia of the skin, Renal insufficiency, Epicanthus, Telec...	ORPHA:85321
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia	ORPHA:272
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Trisomy 18	Abnormality of retinal pigmentation, Epicanthus, Cataract, Spina bifida, Abnormality of the upper...	ORPHA:3380
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Corneal opacity, Proteinuria	ORPHA:1765
Autosomal Recessive Cutis Laxa Type 2A	Abnormal bleeding, Abnormal cornea morphology, Corneal opacity, Downslanted palpebral fissures	ORPHA:357058
Marden-Walker Syndrome	Arachnodactyly, Hypospadias, Renal hypoplasia, Radioulnar synostosis, Talipes equinovarus, Campto...	OMIM:248700
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Hypospadias, Hydrocephalus, Frontal encephalocele, Long penis, Horsesh...	OMIM:268300
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Postaxial hand polydactyly,...	ORPHA:110
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Talipes equinovarus	OMIM:209770
Cerebrooculofacioskeletal Syndrome 1	Blepharophimosis, Microphthalmia, Cataract, Death in childhood	OMIM:214150
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal c...	ORPHA:163966
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism	ORPHA:250984
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Vesicoureteral reflux, Short foot, Hydronephrosis, Hand pol...	ORPHA:250989
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Autosomal Recessive Spastic Paraplegia Type 59	Talipes equinovarus	ORPHA:401795
Incontinentia Pigmenti	Retinal detachment, Cataract, Corneal opacity, Telangiectasia of the skin, Abnormal chorioretinal...	ORPHA:464
Intellectual Developmental Disorder, Autosomal Recessive 61	Tapered finger, Long fingers, Talipes equinovarus, Prominent fingertip pads, Pes cavus	OMIM:617773
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Genu varum, Hip dislocation, Cutis laxa, Deep palmar crease, Clinodactyly of the 5th ...	OMIM:619451
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Hurler Syndrome	Aortic regurgitation, Corneal opacity, Heparan sulfate excretion in urine, Bilateral ptosis, Hydr...	OMIM:607014
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Talipes, Portal hypertension, Abno...	ORPHA:974
Rhizomelic Chondrodysplasia Punctata	Epicanthus, Spina bifida occulta, Cataract	ORPHA:177
Cat Eye Syndrome	Epicanthus, Renal agenesis, Microphthalmia, Horseshoe kidney, Hydronephrosis, Pulmonic stenosis, ...	OMIM:115470
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Short 5th finger, Polydactyly, Ectrodactyly, Microphallus, Clinodactyly ...	ORPHA:397590
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epit...	ORPHA:157
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus, Camptodactyly	OMIM:264180
Axenfeld-Rieger Syndrome, Type 2	Telecanthus, Hypospadias, Hydrocephalus, Microcornea, Opacification of the corneal stroma, Umbili...	OMIM:601499
Leukocyte Adhesion Deficiency Type Ii	Limb undergrowth, Skin vesicle, Overlapping toe, Broad palm	ORPHA:99843
Renal Hypodysplasia/Aplasia 1	Proteinuria, Hypertension, Bilateral renal agenesis, Talipes equinovarus, Renal dysplasia	OMIM:191830
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Isolated Atp Synthase Deficiency	Cataract, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, 3-Methylglutaconic aciduria, A...	ORPHA:254913
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti...	OMIM:258860
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Epicanthus, Cataract, Renal agenesis, Optic at...	OMIM:220500
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia...	ORPHA:363417
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, White eyebrow, Spina bifida, Synophrys, Meningocele, Heterochromia ...	ORPHA:894
Giant Axonal Neuropathy	Abnormal hand morphology, Genu valgum, Talipes equinovarus, Pes cavus, Abnormality of the Achille...	ORPHA:643
Gapo Syndrome	Keratoconus, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Optic atrophy, Nephrolithiasis, U...	ORPHA:2067
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Junctional ectopic tachycardia, Hydrocephalus, Micropenis, P...	OMIM:309801
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Aniridia-Absent Patella Syndrome	Aniridia, Cataract, Ptosis	ORPHA:1069
Freeman-Sheldon Syndrome	Camptodactyly of finger, Talipes equinovarus, Absent palmar crease, Ulnar deviation of finger	ORPHA:2053
Developmental And Epileptic Encephalopathy 91	Talipes equinovarus, Single transverse palmar crease	OMIM:617711
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia, Unilateral narrow palpebr...	OMIM:618727
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Broad distal phalanx of finger	OMIM:615761
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Tachycardia, Pericarditis, Renal insufficiency, Excessive bleeding afte...	ORPHA:99826
Waardenburg Syndrome, Type 1	Telecanthus, White eyelashes, White eyebrow, Spina bifida, Myelomeningocele, Synophrys, Blue irid...	OMIM:193500
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Hyperphosphaturia, Corneal opacity, Horseshoe kidney	OMIM:163200
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hyperten...	OMIM:613095
Spinocerebellar Ataxia, Autosomal Recessive 20	Oligosacchariduria, Talipes equinovarus, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:616354
Gapo Syndrome	Keratoconus, Epicanthus, Sparse eyelashes, Sparse eyebrow, Retinal arteriolar tortuosity, Optic a...	OMIM:230740
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral micr...	ORPHA:468631
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol...	OMIM:616629
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Talipes equinovarus	OMIM:619465
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Metaphyseal chondrodysplasia, Renal cyst, Horseshoe ...	ORPHA:166035
Chromosome 6Pter-P24 Deletion Syndrome	Epicanthus, Telecanthus, Hydrocephalus, Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly,...	OMIM:612582
Chikungunya	Abnormal bleeding, Macule, Epistaxis, Raynaud phenomenon, Erythema, Gingival bleeding, Skin vesic...	ORPHA:324625
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Coloboma	OMIM:619318
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Ptosis	ORPHA:44
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Small h...	OMIM:181405
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Femoral bowing, Abnormal shoulder morphology, ...	OMIM:274000
Renal Agenesis	Renal insufficiency, Proteinuria, Renal agenesis, Unilateral renal agenesis, Ureteral agenesis, H...	ORPHA:411709
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact...	ORPHA:3103
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney dysplasia, Hepatic cysts	OMIM:173900
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly...	OMIM:600325
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ...	ORPHA:1512
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Corneal opacity, Unilateral renal agenesis, Congestive heart failure, Devel...	ORPHA:90348
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Retinal coloboma, Polycystic kidney dysplasia, Occipital meningocele,...	OMIM:616546
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation	ORPHA:35737
Fetal Gaucher Disease	Intracranial hemorrhage, Stillbirth, Neonatal death	ORPHA:85212
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Pu...	OMIM:601186
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:234050
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Heart block, Hydrocephalus, Myoglobinuria, Red-brown ...	ORPHA:228308
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Wolfram Syndrome 1	Neurogenic bladder, Cataract, Hydroureter, Optic atrophy, Cardiomyopathy, Pigmentary retinopathy,...	OMIM:222300
Contractural Arachnodactyly, Congenital	Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, Limited elbow ext...	OMIM:121050
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Cataract, Tortuosity of conjunctival vessels, Ptosis	ORPHA:284289
Multiple Sulfatase Deficiency	Hydrocephalus, Mucopolysacchariduria, Corneal opacity, Retinal degeneration	OMIM:272200
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasti...	OMIM:604278
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Downslanted palpebral fissures	ORPHA:2643
Spondylometaphyseal Dysplasia, Sedaghatian Type	Redundant skin, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short...	OMIM:250220
Joubert Syndrome 37	Microphthalmia, Micropenis, Hydronephrosis, Postaxial polydactyly	OMIM:619185
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Abnormality of the upper urinary tract, Abnormality of the urethra...	ORPHA:2145
Spastic Paraplegia 86, Autosomal Recessive	Talipes equinovalgus, Bilateral talipes equinovarus	OMIM:619735
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Dystonia, Dopa-Responsive	Pes cavus, Talipes equinovarus	OMIM:128230
Holt-Oram Syndrome	Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent...	ORPHA:392
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Numerous congenital melanocytic nevi, Melanocytic nevus	ORPHA:2481
Gracile Bone Dysplasia	Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Micropenis, Brachydactyly	OMIM:602361
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Epicanthus, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absen...	OMIM:617641
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Gastrointestinal hemorrhage, Ptosis, Epicanthus, Retinal detachment, Congestive hear...	OMIM:225400
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Epispadias, Vitr...	ORPHA:2556
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Anemic pallor, Renal agenesis, Absent thumb, Absent radius, Short t...	OMIM:227650
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Erythematous plaque, Oral cavity...	ORPHA:324636
Oculodentodigital Dysplasia, Autosomal Recessive	Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Microcornea, Persistent pupillary membrane, ...	OMIM:257850
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Arterial Tortuosity Syndrome	Keratoconus, Aortic regurgitation, Hypertension, Astigmatism, Ischemic stroke, Downslanted palpeb...	OMIM:208050
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Anemic pallor, Renal agenesis, Absent thumb, Absent radius, Short t...	OMIM:600901
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus	OMIM:619972
Vogt-Koyanagi-Harada Disease	Abnormal eyelash morphology, Abnormal eyebrow morphology, Retinal detachment, Cataract	ORPHA:3437
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Palpebral edema, Lacrimal duct stenosis, Unilateral renal age...	ORPHA:221139
Diamond-Blackfan Anemia 11	Eyelid coloboma, Unilateral renal agenesis	OMIM:614900
Warburg Micro Syndrome 2	Cataract, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Micropenis	OMIM:614225
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Epicanthus, Hypospadias, Renal atrophy, Upslanted palpebral fissure, Coloboma, Astigmatism, Vesic...	OMIM:618659
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Epic...	OMIM:614527
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Hypospadias, Tapered finger, Short thumb, Penos...	OMIM:619148
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Bowing of the long bones, Congenital hip dislocation, Pes planus, Shoulder flexi...	OMIM:255800
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Neph...	ORPHA:324
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metata...	OMIM:305600
Atelosteogenesis Type I	Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu...	ORPHA:1190
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tricuspid regurgitation, Highly arched eyebrow, Trichiasis, Epiblepharon, R...	OMIM:618460
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Sparse eyebrow, Cataract, Sparse eyelashes	OMIM:615704
Monilethrix	Abnormal eyelash morphology, Abnormal eyebrow morphology, Cataract	ORPHA:573
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi...	ORPHA:280921
Gorlin Syndrome	Epicanthus, Cataract, Telecanthus, Hydrocephalus, Iris coloboma	ORPHA:377
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin...	ORPHA:97362
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:93929
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Hydroc...	ORPHA:3412
Kapur-Toriello Syndrome	Cataract, Abnormality of the urinary system, Retinal coloboma, Microphthalmia, Micropenis, Iris c...	OMIM:244300
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly	OMIM:607131
Hurler Syndrome	Death in infancy, Corneal opacity, Angina pectoris, Hydrocephalus, Cardiomyopathy, Hypertension, ...	ORPHA:93473
Joubert Syndrome 23	Polydactyly	OMIM:616490
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Excessive bleeding after a venipuncture, Myocarditis, Oliguria, Subco...	ORPHA:319213
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Distal lower limb muscle weakness, Talipes equinovarus	ORPHA:466794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia	OMIM:616538
Meckel Syndrome, Type 6	Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Postaxial foot polydactyly, Aplasia of ...	OMIM:612284
Alkuraya-Kucinskas Syndrome	Overlapping toe, Abnormal foot morphology, Cutaneous syndactyly, Micropenis, Talipes equinovarus,...	OMIM:617822
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Cataract, Proteinuria, Ptosis, Ectropion, Cor...	ORPHA:33001
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Retinal astrocytic hamartoma, Retinal hamartoma, ...	ORPHA:805
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cataract, Highly arched eyebrow, Synophrys, Urinary urgency, Long eyelashes	OMIM:619286
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hip dislocation, Bladder dive...	OMIM:617821
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Rod-cone dystrophy	ORPHA:324737
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Menkes Disease	Intracranial hemorrhage, Cutis laxa	OMIM:309400
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Abnormal hip bone morphology, Renal hypoplasia/aplasia	ORPHA:1166
Central Core Disease	Pes planus, Rectus femoris muscle atrophy, Congenital hip dislocation, Talipes equinovarus	ORPHA:597
Autosomal Recessive Spastic Paraplegia Type 66	Talipes equinovarus	ORPHA:401815
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Trichothiodystrophy 3, Photosensitive	Ectropion, Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Cataract, Corneal opacity, Epicanthus, Holopr...	ORPHA:1052
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Forearm undergrowth, Talipes eq...	OMIM:251230
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Ectopic kidney, Blepharophimosis, Abnormal pupil mo...	ORPHA:233
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Upper eyelid coloboma, Astigmatism, Umbilical hernia	ORPHA:2095
Lathosterolosis	Hypoplasia of penis, Cataract, Epicanthus, Meningocele, Horseshoe kidney, Microcornea, Opacificat...	ORPHA:46059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Retinal dysplasia	OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Cataract, Ptosis	OMIM:615351
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephalus, Polycoria, Re...	OMIM:175780
Perrault Syndrome 1	Pes cavus, Talipes equinovarus	OMIM:233400
Caroli Syndrome	Abnormal bleeding, Abnormality of the kidney, Portal hypertension, Hematemesis, Conjunctival icte...	ORPHA:480520
Congenital Disorder Of Glycosylation, Type Id	Long fingers, Talipes equinovarus, Clinodactyly, Joint contracture of the hand, Clinodactyly of t...	OMIM:601110
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Telecanthus, Highly arched eyeb...	OMIM:618161
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Absent phalangeal crease, Tarsal synostosis	OMIM:618469
Aniridia 3	Aniridia, Cataract	OMIM:617142
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ...	OMIM:610758
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Pes planus, Tapered finger, Elbow flexion contracture, Talipes equinovarus, Radial de...	OMIM:272430
Bruck Syndrome 1	Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Elbow flexion contracture, Coxa ...	OMIM:259450
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Pellagra-Like Syndrome	Cataract	OMIM:260650
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Abnormal pupil morphology, Microcornea, Vesicoureteral reflux, Webbed penis...	ORPHA:261552
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Ocular albinism, Menorrhagia, Impaire...	OMIM:614076
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Microcornea, Blepharophimosis, Microphthalmia, Epicanthus inv...	OMIM:110100
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia	OMIM:211890
Lymphedema-Hypoparathyroidism Syndrome	Renal insufficiency, Cataract, Telecanthus, Nephropathy, Ptosis	OMIM:247410
Bruck Syndrome 2	Elbow flexion contracture, Knee flexion contracture, Femoral bowing, Talipes equinovarus, Hydroxy...	OMIM:609220
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, ...	ORPHA:1454
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Hypospadias, Metatarsus adductus, Short thumb, Abnormal finger m...	ORPHA:436003
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Joubert Syndrome 10	Postaxial polydactyly	OMIM:300804
Cataract 48	Cataract	OMIM:618415
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Scheie Syndrome	Aortic regurgitation, Mucopolysacchariduria, Corneal opacity	ORPHA:93474
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Optic nerve hypoplasia, Pulm...	OMIM:615280
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension...	OMIM:300845
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Downslanted palpebral fissures, Peters anomaly	OMIM:614526
Chromosome 6Q11-Q14 Deletion Syndrome	Talipes equinovarus, Pes planus, Pes cavus, Single transverse palmar crease	OMIM:613544
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Cataract, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy...	OMIM:253800
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Proteinuria, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Hyperten...	OMIM:311200
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Retinal coloboma, Iris coloboma	ORPHA:2328
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, Hypospadias, 2-3 toe cutaneous syndactyly, Phthisis bulbi...	OMIM:300166
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Hydrocephalus, Abnormality of the ureter, Renal cyst, Abnormal localiza...	ORPHA:1834
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Cervical myelopathy, Mitral regurgitation, Opacification of the corneal stroma, ...	OMIM:253010
8Q24.3 Microdeletion Syndrome	Branchial cyst, Gastrointestinal hemorrhage, Epicanthus, Abnormality of the kidney, Unilateral re...	ORPHA:508488
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ...	ORPHA:3258
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Transient ischemic attack, Proteinuria, Minimal change glomerulonephritis, Conge...	ORPHA:1830
Caroli Disease	Conjunctival icterus, Polycystic kidney dysplasia, Portal hypertension	ORPHA:53035
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Blue nevus, Polydactyly, Preauricular skin tag, Clinodactyly, Hy...	OMIM:618950
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp...	ORPHA:2473
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Epicanthus, Tricuspid regurgitation, Palpebral edema, Unilateral renal agenesi...	ORPHA:261337
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Lacrimal duct atre...	OMIM:300952
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Knobloch Syndrome	Occipital encephalocele, Epicanthus, Cataract, Retinal detachment, Ectopia lentis, Hydrocephalus,...	ORPHA:1571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Cataract, Peters anomaly, Hydrocephalus, Buphthalmos, Persistent...	OMIM:613150
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Abnormality iris morphology, Holoprosencephaly	ORPHA:250999
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Diaphanospondylodysostosis	Narrow pelvis bone, Multiple renal cysts	ORPHA:66637
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Proteinuria, Retinal dystrophy, Non-acidotic proximal tubulopathy, ...	OMIM:222448
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma	OMIM:613576
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,...	ORPHA:42775
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Renal hypoplasia, Mic...	OMIM:603467
Aarskog-Scott Syndrome	Finger syndactyly, Pes planus, Genu recurvatum, Single transverse palmar crease, Camptodactyly of...	ORPHA:915
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Epicanthus, Optic atroph...	OMIM:251300
Weill-Marchesani Syndrome	Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis	ORPHA:3449
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Thick eyebrow, Developmental cataract	ORPHA:436174
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Horseshoe kidney, Microphthalmia, Pulmonary arterial hypertension, Downsla...	ORPHA:65286
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch...	OMIM:614099
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Hydrocephalus, Eyelid coloboma, Chorioretinal coloboma, Microphthalmia, Iris colo...	ORPHA:268249
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder, Cataract	OMIM:617370
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal localization of kidney,...	ORPHA:3429
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Pes cavus, Overlapping toe, Single transverse palmar crease, Hypospadias, Devi...	ORPHA:464738
Costello Syndrome	Keratoconus, Epicanthus, Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:3071
20Q13.33 Microdeletion Syndrome	Hallux valgus, Pes planus, Hypospadias, Tapered finger, Abnormal limb bone morphology, Hip disloc...	ORPHA:261311
Chromosome Xq13 Duplication Syndrome	Pes planus, Metatarsus adductus, Hip dysplasia, Talipes equinovarus, Finger joint hypermobility, ...	OMIM:301069
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Upslanted palpebral fissure, Micropht...	OMIM:614083
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat...	OMIM:615349
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Al-Gazali Syndrome	Corneal opacity, Hydronephrosis, Sclerocornea	OMIM:609465
Tangier Disease	Ectropion, Myocardial infarction, Opacification of the corneal stroma, Cicatricial ectropion	OMIM:205400
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Spina bifida occulta, Renal agenesis, Unilateral renal agenesis	OMIM:619227
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Uveitis, Renal cyst, Conjunctivitis	ORPHA:488618
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Renal hypoplasia, F...	OMIM:616300
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Hypophosphatasia, Infantile	Intracranial hemorrhage, Stillbirth, Skin dimple over apex of long bone angulation	OMIM:241500
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Hip d...	OMIM:602471
Tetrasomy 5P	Redundant neck skin, Overlapping toe, Short hallux, Long fingers, Congestive heart failure, Heart...	ORPHA:3309
Ring Chromosome 21 Syndrome	Syndactyly, Small hand, Narrow palm, Multiple cafe-au-lait spots, Clinodactyly	ORPHA:1445
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Microphthalmia	ORPHA:1528
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Posterior Column Ataxia With Retinitis Pigmentosa	Recurrent urinary tract infections, Cataract, Bone spicule pigmentation of the retina, Urinary in...	OMIM:609033
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Narrow pelvis bone, Hammertoe, Talipes e...	OMIM:608022
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Microcornea, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia, Short pal...	OMIM:156610
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Overlapping toe, Single transverse palmar crease, Tapered finger, Hip dysplasia, Bilateral talipe...	OMIM:617807
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Mucopolysaccharidosis, Type Vii	Epicanthus, Corneal opacity, Heparan sulfate excretion in urine, Hydrocephalus, Dermatan sulfate ...	OMIM:253220
Stickler Syndrome Type 1	Retinal detachment, Cataract, Abnormal vitreous humor morphology	ORPHA:90653
49,Xxxxy Syndrome	Pes planus, Hypoplasia of penis, Down-sloping shoulders, Coxa valga, Elbow dislocation, Pulmonary...	ORPHA:96264
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Talipes cavus equinovarus	ORPHA:139485
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Hypospadias, Optic nerve hypoplasia, Sparse eyebrow, Synophry...	ORPHA:495875
Spinocerebellar Ataxia, Autosomal Recessive 21	Talipes equinovarus	OMIM:616719
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Short palpebral fissure	ORPHA:364577
48,Xxxy Syndrome	Pes planus, Hypoplasia of penis, Down-sloping shoulders, Coxa valga, Elbow dislocation, Pulmonary...	ORPHA:96263
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Conjunctivitis	OMIM:242150
Monosomy 13Q14	Epicanthus, Cataract, Retinoblastoma, Holoprosencephaly, Microphthalmia, Iris coloboma, Ptosis	ORPHA:1587
Blepharophimosis-Impaired Intellectual Development Syndrome	Pes planus, Recurrent urinary tract infections, Hypospadias, Tapered finger, Enuresis, Hip dyspla...	OMIM:619293
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Abnormally large globe, Knee dislocation, Shoulder dislocation, Dislocated radial head, Rhizomeli...	OMIM:245600
Silver-Russell Syndrome 3	Syndactyly, Small hand, Melanocytic nevus, Clinodactyly of the 5th finger, Penoscrotal hypospadias	OMIM:616489
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggreg...	OMIM:614074
Vici Syndrome	Death in infancy, Abnormality of retinal pigmentation, Cataract, Optic atrophy, Ureteral atresia,...	ORPHA:1493
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Down-sloping shoulders, Tapered finger, Renal cyst, Clinodactyly	OMIM:615560
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Arrhythmia, Bilateral single transverse palmar creases, Synostosis of carpal bones	ORPHA:3191
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Calf muscle hypertrophy, Scapular muscle atrophy, Peroneal muscle weakness, Talipes equinovarus	OMIM:611588
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Rhizomelia, Single transverse palmar crease, Hypospadias, Hemolytic-uremic s...	OMIM:611209
Charcot-Marie-Tooth Disease, Type 4C	Hammertoe, Pes cavus, Talipes equinovarus	OMIM:601596
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Patellar aplasia, Knee flexion c...	ORPHA:85201
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly, Premature skin wrinkling	ORPHA:1942
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia	ORPHA:2714
Angelman Syndrome	Keratoconus, Optic disc pallor, Iris hypopigmentation, Optic atrophy, Astigmatism, Ptosis	ORPHA:72
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Highly arched eyebrow, Unilateral renal agenesis, Sparse eyebrow, Synophrys, Optic a...	ORPHA:487796
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Tapered...	ORPHA:505237
Noonan Syndrome 13	Duplicated collecting system, Pes planus, Overlapping toe, Tapered finger, Metatarsus adductus, L...	OMIM:619087
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Epicanthus, Bull's eye maculopathy, Highly arched eyebrow, Unilateral renal agenesis, Synophrys, ...	OMIM:213980
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Pes cavus, Split hand, Genu recurvatum, Talipes equinovarus	OMIM:604168
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyelashes, Keratitis, Sparse eyebrow, Conjunctivitis, Blepharitis	OMIM:612843
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Portal hypertension, Pancreatic cysts, Stage 5 chronic kidney...	OMIM:208540
Rabin-Pappas Syndrome	Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectas...	OMIM:620155
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Cataract, Hypospadias, Nephroblastoma, Epicanthus, Hydrocephalus, R...	OMIM:257300
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ...	OMIM:302960
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, 2-3 finger syndactyly, Clubbing of toes, Urete...	ORPHA:2437
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,...	OMIM:614075
Sanjad-Sakati Syndrome	Hypoplasia of penis, Astigmatism, Corneal opacity, Aplasia/Hypoplasia affecting the eye	ORPHA:2323
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Pallor	OMIM:615631
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Synophrys, Holoprosencephaly, Chorioretinal coloboma, Iris col...	ORPHA:2162
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Cataract, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic a...	ORPHA:445038
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Pes cavus, Syndactyly, Clinodactyly, Arachnodactyly	OMIM:619092
Achondrogenesis Type 1B	Short foot, Talipes equinovarus, Micromelia	ORPHA:93298
Slc35A2-Cdg	Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal renal...	ORPHA:356961
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Plantar flexion contracture, Talipes equinovarus, Absent Achilles reflex	OMIM:620011
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Bruising susceptibility, Unilateral renal agenesis	OMIM:606408
C Syndrome	Short metacarpal, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hip dislocation, Renal ...	OMIM:211750
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing, Knee flexion...	OMIM:600920
Giant Axonal Neuropathy 1, Autosomal Recessive	Pes planus, Areflexia of lower limbs, Talipes equinovarus, Hyporeflexia of lower limbs, Pes cavus	OMIM:256850
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Curry-Jones Syndrome	Lipomyelomeningocele, Blepharophimosis, Occipital meningocele, Microphthalmia, Iris coloboma	OMIM:601707
49,Xxxyy Syndrome	Finger clinodactyly, Micropenis, Bilateral talipes equinovarus, Abnormal plantar dermatoglyphics	ORPHA:261534
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Unilateral ptosis, Hypospadias, Renal agenesis, Spina bifida, Optic nerve h...	ORPHA:508498
Neuroocular Syndrome	Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Hypoplasia of the fove...	OMIM:619539
Coach Syndrome 2	Hydrocephalus, Hypertension, Coloboma, Chorioretinal coloboma, Hyperechogenic kidneys	OMIM:619111
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pes planus, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 fing...	OMIM:620029
Spina Bifida-Hypospadias Syndrome	Hypospadias, Spina bifida, Spinal dysraphism	ORPHA:3176
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ...	ORPHA:1515
Arthrogryposis Multiplex Congenita 5	Rocker bottom foot, Cardiac arrest, Hip dislocation, Elbow flexion contracture, Hammertoe, Talipe...	OMIM:618947
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Epicanthus, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior ch...	ORPHA:2479
Fraser Syndrome 1	Encephalocele, Absent eyebrow, Anophthalmia, Corneal opacity, Hypospadias, Renal hypoplasia/aplas...	OMIM:219000
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Hip contracture, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion contracture, Knee f...	OMIM:616266
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey...	ORPHA:2396
Mohr Syndrome	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysis, Postaxial f...	OMIM:252100
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Anophthalmia, ...	ORPHA:2526
Pontocerebellar Hypoplasia, Type 1A	Abnormal foot morphology, Talipes equinovarus	OMIM:607596
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Monosomy 9Q22.3	Epicanthus, Cataract, Retinopathy, Hydrocephalus, Microphthalmia, Umbilical hernia, Nephroblastom...	ORPHA:77301
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Corneal erosion, Thic...	OMIM:301050
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Epicanthus, Bilateral microphthalmos, Upslanted palpebral fissure, Horizontal eyebrow, Umbilical ...	ORPHA:369891
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus	OMIM:618174
Intellectual Developmental Disorder, Autosomal Dominant 51	Long toe, Long foot, Talipes equinovarus	OMIM:617788
Ellis-Van Creveld Syndrome	Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Genu valgum, Postaxi...	OMIM:225500
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly, Hypospadias	OMIM:619736
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Vesicoureteral reflux, Abnormality of the wrist, Micropenis, Elbow ankylosis, Sho...	ORPHA:95699
Autosomal Recessive Dopa-Responsive Dystonia	Pes cavus, Talipes equinovarus	ORPHA:101150
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Glandular hypospadias, Ulnar deviation of finger, Talipes...	ORPHA:1358
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma	OMIM:256540
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Epidermoid cyst	ORPHA:1997
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Cataract, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chro...	OMIM:614376
Myopathy, Centronuclear, 2	Scapular winging, Pes cavus, Talipes equinovarus	OMIM:255200
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Transient ischemic attack, Stage 5 chronic kidney disease, Neph...	OMIM:242900
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Hypoplasia of...	ORPHA:3015
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ...	OMIM:613684
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hydrocephalus, Hypoplasia of the iris, Anterior synechiae of...	OMIM:614195
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Toe syndactyly, Hydroureter, Single transverse palmar crease, Valvular...	OMIM:300707
Mucolipidosis Iii Gamma	Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma	OMIM:252605
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Aspergillosis	Intracranial hemorrhage, Localized skin lesion, Stroke	ORPHA:1163
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro...	OMIM:268315
Mucopolysaccharidosis Type 1	Corneal opacity, Congestive heart failure, Hydrocephalus, Optic atrophy, Mucopolysacchariduria, H...	ORPHA:579
Leopard Syndrome 1	Bundle branch block, Epicanthus, Hypospadias, Unilateral renal agenesis, Micropenis, Third degree...	OMIM:151100
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Thickened g...	OMIM:308940
Joubert Syndrome 1	Optic disc pallor, Epicanthus, Retinal dystrophy, Highly arched eyebrow, Optic disc coloboma, Ren...	OMIM:213300
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Talipes equinovarus	OMIM:617481
Joubert Syndrome 2	Renal insufficiency, Abnormal foot morphology, Postaxial hand polydactyly, Renal cyst, Postaxial ...	OMIM:608091
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Metaphyseal chondrodysplasia, Renal cyst, Horseshoe kidn...	OMIM:250410
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R...	OMIM:613550
Spastic Paraplegia 50, Autosomal Recessive	Talipes equinovarus, Adducted thumb	OMIM:612936
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Opacification of the corneal stroma	OMIM:215250
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Short metat...	OMIM:618150
Hallermann-Streiff Syndrome	Cataract, Sparse eyelashes, Spina bifida, Sparse eyebrow, Optic disc coloboma, Telangiectasia, Hy...	OMIM:234100
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Arrhythmia, ...	OMIM:153400
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Pes cavus, Talipes equinovarus, Intrinsic hand muscle atrophy, Knee flexion contracture	OMIM:615490
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Epicanthus, Bifid ureter, Astigmatism,...	ORPHA:500095
Limb Body Wall Complex	Encephalocele, Corneal opacity, Abnormality of the kidney, Spina bifida, Myelomeningocele, Hydroc...	ORPHA:2369
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short toe, Hypospadias, Talipes equinovarus	ORPHA:98791
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Rocker bottom foot, Urinary incontinence, Achilles...	OMIM:301041
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Pes planus, Sandal gap, Arachnodactyly, Hip dysplasia, Talipes equinovarus, Camptodactyly	OMIM:617146
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormal metacarpal morphology, Pes...	ORPHA:3224
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Short distal pha...	ORPHA:2994
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Myoectodermal Gonadal Dysgenesis Syndrome	Epicanthus, Highly arched eyebrow, Unilateral renal agenesis, Sparse eyebrow, Hypoplasia of the l...	OMIM:618419
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha...	OMIM:617914
Pontocerebellar Hypoplasia, Type 11	Pes planus, Talipes equinovarus	OMIM:617695
Fryns Syndrome	Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Vesicoureteral reflux, Microphthalmia...	ORPHA:2059
Atelosteogenesis, Type I	Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem...	OMIM:108720
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Cockayne Syndrome Type 1	Renal insufficiency, Anophthalmia, Foot joint contracture, Proteinuria, Hypertension	ORPHA:90321
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Dubowitz Syndrome	Epicanthus, Telecanthus, Hypospadias, Hypoplasia of the iris, Blepharophimosis, Sparse lateral ey...	OMIM:223370
Laryngeal Abductor Paralysis	Talipes equinovarus	OMIM:150260
Pseudo-Torch Syndrome 1	Renal insufficiency, Cataract, Opacification of the corneal stroma, Umbilical hernia, Petechiae	OMIM:251290
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormal eyelid morphology, Abnorma...	ORPHA:193
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Hip dysplasia, Camptodactyly, Microphthalmia, Joint contractu...	OMIM:611961
Hereditary Mucoepithelial Dysplasia	Hematuria, Cataract, Corneal dystrophy, Abnormality of the bladder	ORPHA:1839
Steinfeld Syndrome	Retinal coloboma, Holoprosencephaly, Microphthalmia, Unilateral renal dysplasia, Iris coloboma	OMIM:184705
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Neurogenic bladder, Cataract	OMIM:619780
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Ogden Syndrome	Global glomerulosclerosis, Epicanthus, Abnormal eyelid morphology, Sparse eyebrow, Bilateral ptos...	OMIM:300855
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Urinary incontinence, Achilles tendon contracture, Elbow flexion co...	OMIM:617114
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Long fingers, Talipes equinovarus, Pes cavus	ORPHA:169186
Agel Amyloidosis	Cataract, Proteinuria, Bilateral ptosis, Bruising susceptibility, Stage 5 chronic kidney disease,...	ORPHA:85448
Chime Syndrome	Epicanthus, Corneal opacity, Abnormality of the kidney, Upslanted palpebral fissure, Retinal colo...	ORPHA:3474
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Anemic pallor, Renal agenesis, Absent thumb, Absent radius, Short t...	OMIM:227645
Joubert Syndrome 33	Syndactyly	OMIM:617767
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hypermelanotic macule, Hand polydactyly, Foot polydactyly, Nev...	ORPHA:60040
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Rod-cone dystrophy, Subcapsular cataract, Optic atrophy, Cataract	OMIM:612674
Carpenter Syndrome 1	Epicanthus, Hydroureter, Telecanthus, Optic atrophy, Microcornea, Pulmonic stenosis, Opacificatio...	OMIM:201000
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Radial club hand, Intracrani...	OMIM:617053
Larsen-Like Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Radial deviation of the 4th finger, Bipartit...	OMIM:608545
Pseudo-Torch Syndrome 2	Patent ductus arteriosus, Bradycardia, Petechiae, Cerebral hemorrhage	OMIM:617397
Mucopolysaccharidosis Type 7	Umbilical hernia, Mucopolysacchariduria, Corneal opacity	ORPHA:584
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Micropht...	OMIM:201180
Joubert Syndrome 27	Polydactyly	OMIM:617120
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Anemic pallor, Renal agenesis, Absent thumb, Absent radius, Preaxia...	OMIM:227646
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Hypospadias, Anophthalmia, Sclerocornea, Optic nerve hypoplasia, C...	OMIM:206900
Farber Disease	Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn...	ORPHA:333
Alg8-Cdg	Cutis laxa, Talipes equinovarus, Camptodactyly, Premature skin wrinkling, Brachydactyly	ORPHA:79325
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Sclerocornea, Ovarian cyst, Blep...	OMIM:188400
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Abnormal shoulder morphology, Abnormal...	ORPHA:2115
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Talipes equinovarus	OMIM:618917
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Hypospadias, Thin skin, Toe clinod...	ORPHA:217346
Joubert Syndrome 39	Occipital encephalocele, Retinal dystrophy, Polycystic kidney dysplasia	OMIM:619562
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Heparan sulfate excretion in urine, Hydrocephalus, Synophrys, Optic at...	ORPHA:581
Aase-Smith Syndrome I	Slender finger, Talipes equinovarus	OMIM:147800
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Abnormal palmar dermatoglyphics, Heart murmur, Multiple bladder diverticula, Microph...	ORPHA:2728
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact...	OMIM:613573
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Talipes cavus equinovarus, Dilated ...	ORPHA:59135
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Pes planus, Sandal gap, Abnormal foot morphology, Decreased/absent ankle reflexes, Abnormal renal...	ORPHA:477817
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Ankle clonus,...	OMIM:615398
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Limited knee flexion, Calcaneovalgus deformit...	OMIM:615065
Neuhauser Syndrome	Iridodonesis, Epicanthus, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures	OMIM:249310
Peroxisome Biogenesis Disorder 7A (Zellweger)	Epiphyseal stippling, Talipes equinovarus	OMIM:614872
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Cataract, Telecanthus	ORPHA:1563
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Hypospadias, Sparse eyebrow, Unilateral microphthalmos, Iris coloboma	OMIM:618874
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Mitral regurgitation, Arachnodactyly, Talipes equinovarus, Camptodactyly	OMIM:301039
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Cranium bifidum occultum...	ORPHA:306542
Arterial Tortuosity Syndrome	Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart ...	ORPHA:3342
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t...	ORPHA:276621
Hereditary Leiomyomatosis And Renal Cell Cancer	Papillary renal cell carcinoma type 2, Cataract	ORPHA:523
Moebius Syndrome	Death in infancy, Epicanthus, Corneal opacity, Blepharitis, Ptosis	ORPHA:570
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Hip dislocation, Cutis laxa, Talipes equinovarus, Adducted thumb	OMIM:219150
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Telangiectasia of the skin, Abno...	ORPHA:1556
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis...	ORPHA:887
Fraser Syndrome	Finger syndactyly, Hypoplasia of penis, Anophthalmia, Toe syndactyly, Multicystic kidney dysplasi...	ORPHA:2052
Chromosome 1Q41-Q42 Deletion Syndrome	3-4 finger cutaneous syndactyly, Microphthalmia, Sandal gap, Talipes equinovarus	OMIM:612530
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Filippi Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly	OMIM:272440
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena...	ORPHA:2044
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, Short phalanx of finger, ...	OMIM:143095
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Van Maldergem Syndrome 1	Short fourth metatarsal, Hypospadias, Abnormal foot morphology, Renal hypoplasia, Cutaneous finge...	OMIM:601390
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Epicanthus, Cataract, Hypospadias, Brushfield spots, Upslanted palpebral fissu...	OMIM:214100
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short metatarsal, Renal cyst, Nephronophthisis, Clinodactyly of the 5th fin...	OMIM:266920
Gm1 Gangliosidosis	Corneal opacity, Abnormal retinal vascular morphology, Congestive heart failure, Optic atrophy, R...	ORPHA:354
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Cataract, Rod-cone dystrophy	OMIM:614879
De Barsy Syndrome	Epicanthus, Cataract, Corneal opacity, Umbilical hernia, Downslanted palpebral fissures, Abnormal...	ORPHA:2962
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Proximal placement of thumb	OMIM:617883
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Unilateral renal agenesis, Ovarian cyst, Umbilical hernia, Enlarged ...	OMIM:618188
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Rocker bottom foot,...	OMIM:193700
Fucosidosis	Mucopolysacchariduria, Corneal opacity	ORPHA:349
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Renal...	ORPHA:709
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Cataract, Abnormal left ventricular function, Con...	ORPHA:36913
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Arachnodactyly, Small hand, Elbow flexion contracture, Knee flexion contracture,...	ORPHA:371364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the...	OMIM:253280
Trichothiodystrophy 1, Photosensitive	Death in infancy, Cataract, Telangiectasia, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	OMIM:601675
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoac...	ORPHA:534
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Occipital encephalocele, Pterygium, Cataract	OMIM:224410
Jacobsen Syndrome	Death in infancy, Multicystic kidney dysplasia, Cataract, Epicanthus, Ectropion, Spina bifida, Mi...	ORPHA:2308
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Abnormality of the upper urinary ...	ORPHA:636
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Clinodactyly of the 5th finger, Short tibia, Short phalanx of finger...	OMIM:268305
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosis	OMIM:220210
Alg3-Cdg	Neural tube defect, Cataract, Cardiomyopathy	ORPHA:79321
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Hypospadias, Renal hypoplasia, Micropenis, ...	OMIM:615546
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Joint Laxity, Short Stature, And Myopia	Talipes equinovarus	OMIM:617662
Monosomy 18P	Microphthalmia, Hypertension, Brachydactyly	ORPHA:1598
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ...	OMIM:602088
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Urinary incontinence, Talipes equinovarus	OMIM:604320
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Aortic regurgitation, Recurrent urinary tract infections, Cataract, ...	ORPHA:309282
Cerebrofacioarticular Syndrome	Syndactyly, Hypospadias, Renal hypoplasia, Talipes equinovarus, Pulmonic stenosis, Camptodactyly,...	ORPHA:314679
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Harlequin Ichthyosis	Cataract, Sudden cardiac death, Ectropion	ORPHA:457
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Ureteral stenosis, Coxa valga, Flared metaphysis...	OMIM:309350
Familial Isolated Hypoparathyroidism	Nephropathy, Arrhythmia, Cataract	ORPHA:2238
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93260
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Lower limb asymmetry, 2-3 toe syndactyly, Postaxial foot polydactyly, Broa...	ORPHA:404440
Intellectual Developmental Disorder, Autosomal Dominant 39	Bilateral talipes equinovarus	OMIM:616521
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Pes planus, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of fing...	ORPHA:261349
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy, Bilateral talipes equinovarus	ORPHA:544469
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Hypoplastic iliac wing, Small hand, Horseshoe kidney, Short foot, Cutaneous finge...	OMIM:235510
Nabais Sa-De Vries Syndrome, Type 2	Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Tapered finger	OMIM:618829
Apolipoprotein A-I Deficiency	Xanthelasma, Angina pectoris, Opacification of the corneal stroma	ORPHA:425
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Upslanted palpebral fissure, Microphthalmia, Ocular albinism, Blepharophimosis	ORPHA:1352
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Epicanthus, Hypospadias, Blepharophimosis, Optic atrophy, Renal cyst, Upslanted palpebral fissure...	OMIM:616975
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge...	OMIM:619721
Neu-Laxova Syndrome 2	Ablepharon, Cataract, Spina bifida	OMIM:616038
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Curly eyelashes, Ectopic kidney, Highly arched eyebrow, Synophrys, Opti...	OMIM:122470
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Subcutaneous nodule, Telangiectasia, Intracranial hemorrhage, Arteriovenous malf...	ORPHA:109
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Overlapping toe, Down-sloping shoulders, Tapered finger, Talipes equinovarus, Broad thumb	OMIM:617452
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Upper eyelid entropion, Hydrocephalus, Optic nerve hypoplasia, Unilateral renal agenesis	ORPHA:457284
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Cataract, Telangiectasia of the skin, Myocardial infarction, Ischemi...	ORPHA:679
Trisomy 20P	Finger syndactyly, Hypospadias, Camptodactyly of finger, Talipes, Abnormality of the kidney, Prea...	ORPHA:261318
Blepharocheilodontic Syndrome 1	Aplasia cutis congenita over the scalp vertex, Clinodactyly, Cutaneous syndactyly	OMIM:119580
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy...	OMIM:617895
Pseudotrisomy 13 Syndrome	Renal agenesis, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot ...	OMIM:264480
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Lateral Meningocele Syndrome	Epicanthus, Meningocele, Umbilical hernia, Downslanted palpebral fissures, Iris coloboma, Ptosis	ORPHA:2789
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Abnormality of retinal pigmentation	ORPHA:858
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly	OMIM:605627
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Corneal opacity, Hydrocephalus, Dermatan sulfate excretion in urine, Cer...	OMIM:253200
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o...	OMIM:615789
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Pes planus, Single transverse palmar crease, Monkey wrenc...	OMIM:615777
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Hip dislocation, Stage 5 chronic kidney...	OMIM:617729
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse...	OMIM:619135
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Cataract	OMIM:146200
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Postaxial hand p...	OMIM:236700
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Abnormality of retinal pigmentation, ...	ORPHA:2715
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Clinodactyly, Talipes equinovarus	OMIM:616789
Acrorenal-Mandibular Syndrome	Epicanthus, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidney ...	OMIM:200980
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short foot, Talipes calcaneovarus, Large hands, Talipes equinovarus, Cubitus valgus, Micropenis, ...	OMIM:300534
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Card...	OMIM:614922
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Long fingers, Bilateral talipes equinovarus, Talipes equinovarus, Pulmonic stenosis, Camptodactyl...	OMIM:618343
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility	OMIM:185070
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Methylmalonic aciduria, Unilateral renal agenesis	ORPHA:79284
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly	ORPHA:544254
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of the knee, Broad hallux, Small hand, Tibial bowing, Short foot, Broad thumb, Talipe...	ORPHA:251028
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Opto-chiasmatic atrophy, Optic atrophy, Cardiomyopathy, Elevated urine acetoacetic acid...	OMIM:620089
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail...	OMIM:264800
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn...	DECIPHER:81
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Corneal crystal...	OMIM:219900
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Un...	OMIM:154400
Oculodentodigital Dysplasia	Neurogenic bladder, Cataract, Epicanthus, Uveitis, Microcornea, Blepharophimosis, Microphthalmia,...	OMIM:164200
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Hypospadias, Single transverse palmar crease, Ankle flexion contracture, Taper...	ORPHA:435938
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Calf muscle hypertrophy, Multiple renal cysts, Talipes equinovarus, Red...	OMIM:618733
Grange Syndrome	Syndactyly, Renovascular hypertension, Finger clinodactyly, Renal artery stenosis, Brachydactyly	OMIM:602531
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Pili Torti-Onychodysplasia Syndrome	Keloids, Palmoplantar keratoderma, Dry skin, Cutaneous syndactyly	ORPHA:2890
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, M...	OMIM:104200
Fanconi Anemia	Abnormal eyelid morphology, Hypospadias, Spina bifida, Aplasia/Hypoplasia of the iris, Astigmatis...	ORPHA:84
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypospadias, Hypoplasia of the radius, Talipe...	OMIM:607143
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Camptodactyly, Uln...	ORPHA:562528
Spastic Paraplegia 52, Autosomal Recessive	Talipes equinovarus	OMIM:614067
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Retinoblastoma, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia, Umbilical ...	OMIM:613884
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Hypermyelinated retinal nerve fibers, Corneal stromal edema, Shallow orbits, Mic...	OMIM:601812
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Campomelic Dysplasia	Bowing of the long bones, Small abnormally formed scapulae, Hip dislocation, Fibular hypoplasia, ...	ORPHA:140
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Epicanthus, Corneal opacity, Synophrys, Upslanted palpebral fissure, Pulmonic...	ORPHA:488632
Orofaciodigital Syndrome Type 1	Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto...	ORPHA:2750
Intellectual Disability-Strabismus Syndrome	Hypospadias, Rocker bottom foot, Achilles tendon contracture, Talipes equinovarus, Congenital fin...	ORPHA:363528
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Ablepharon, Corneal opacity, Absent eyelashes, Corneal erosi...	ORPHA:920
Chronic Graft Versus Host Disease	Phimosis, Urinary bladder inflammation, Erythema, Intermittent generalized erythematous papular r...	ORPHA:99921
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Keratitis, Retinal vascular proliferation,...	OMIM:308300
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Recurrent urinary tract infections, Toe syndactyly, Bilateral camptodactyly, Talipes equinovarus,...	OMIM:619234
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Iris hypopigmentation, Hydrocephalus, Ocular albinism, Abnormal renal tubule morphology	ORPHA:2720
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Telangi...	OMIM:268400
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metaca...	OMIM:169400
Gomez-Lopez-Hernandez Syndrome	Downslanted palpebral fissures, Opacification of the corneal stroma	OMIM:601853
Kleefstra Syndrome 1	Hypospadias, Single transverse palmar crease, Abnormal renal morphology, Talipes equinovarus, Mic...	OMIM:610253
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Talipes equinovarus, Camptodactyly	OMIM:617333
Clouston Syndrome	Cataract, Sparse eyelashes, Sparse eyebrow, Conjunctivitis, Blepharitis	OMIM:129500
Chromosome 18Q Deletion Syndrome	Pes planus, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal placement of thumb, Hyp...	OMIM:601808
Mucolipidosis Ii Alpha/Beta	Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Aortic regurgitation, ...	OMIM:252500
Zttk Syndrome	Aortic regurgitation, Epicanthus, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Optic atro...	OMIM:617140
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, Micropenis	OMIM:610829
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Basal Cell Nevus Syndrome 1	Cataract, Spina bifida, Hydrocephalus, Orbital cyst, Microphthalmia, Iris coloboma	OMIM:109400
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hypoplastic pubic bone, Clubb...	ORPHA:1865
Spondylodysplastic Ehlers-Danlos Syndrome	Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Slender long b...	ORPHA:536471
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Cataract, Epistaxis, Ocular ...	ORPHA:79430
Kniest Dysplasia	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ...	ORPHA:485
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S...	OMIM:267010
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi...	ORPHA:1112
Charge Syndrome	Anophthalmia, Talipes, Abnormal tibia morphology, Vesicoureteral reflux, Bifid femur, Horseshoe k...	ORPHA:138
Bifid Nose With Or Without Anorectal And Renal Anomalies	Thick eyebrow, Renal agenesis, Unilateral renal agenesis	OMIM:608980
Wieacker-Wolff Syndrome	Proximal placement of thumb, Hip dislocation, Talipes equinovarus, Camptodactyly, Palmar hyperker...	OMIM:314580
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Ifap Syndrome 2	Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Small hand, Short foot, Short palm, Microphthalmia, Micropenis	OMIM:241410
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Abnormal foot morphology, Bilateral talipes equinovarus, 2-3 toe syndactyly	OMIM:618186
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Re...	OMIM:252600
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Bosma Arhinia Microphthalmia Syndrome	Cataract, Hypospadias, Synophrys, Lacrimal duct atresia, Coloboma, Microphthalmia, Micropenis	OMIM:603457
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Mucoepithelial Dysplasia, Hereditary	Cataract, Keratoconjunctivitis, Melena, Hematuria, Opacification of the corneal stroma, Corneal n...	OMIM:158310
Distal Deletion 12Q	Telecanthus, Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Down...	ORPHA:96149
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Redundant neck skin, Hypospadias, Proximal placement of thumb, Glandular hypospadias, Deep palmar...	OMIM:604314
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Abnormality of the ...	OMIM:155100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Bruck Syndrome	Bowing of the long bones, Talipes equinovarus	ORPHA:2771
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Short foot, Optic nerve hypoplasia, Bilateral microphthalmos, Broad proximal phalanges of the hand	OMIM:607597
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon	ORPHA:401986
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ...	OMIM:620076
Oculoectodermal Syndrome	Epicanthus, Transient ischemic attack, Chorioretinal atrophy, Microcornea, Eyelid coloboma, Astig...	OMIM:600268
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Single transverse palmar crease, Enuresis, Renal Fanconi syndrome...	OMIM:619743
Frank-Ter Haar Syndrome	Bowing of the long bones, Redundant neck skin, Abnormally large globe, Metatarsus adductus, Flare...	OMIM:249420
Charcot-Marie-Tooth Disease, Type 4D	Pes cavus, Talipes cavus equinovarus, Claw hand deformity, Hammertoe	OMIM:601455
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Bundle branch block, Clino...	ORPHA:373
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Cataract, Multicystic kidney dysplasia, Hypospadias, Sclerocornea, Renal hyp...	ORPHA:818
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Talipes equinovarus, Arrhythmi...	ORPHA:261494
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Chromosome 3Pter-P25 Deletion Syndrome	Preauricular pit, Sacral dimple, Overlapping toe, Postaxial polydactyly, Tapered finger	OMIM:613792
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow...	OMIM:211350
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Pes planus, Renal cyst, Talipes equinovarus, Mitral stenosis, Renal dysplasia	OMIM:617260
Charge Syndrome	Hypoplasia of the ulna, Anophthalmia, Renal agenesis, Abnormal palmar dermatoglyphics, Down-slopi...	OMIM:214800
9Q21.13 Microdeletion Syndrome	Hip dysplasia, Polydactyly, Hydronephrosis	ORPHA:531151
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Cutis laxa, Br...	OMIM:614800
Alagille Syndrome 1	Duplicated collecting system, Cataract, Band keratopathy, Multiple small medullary renal cysts, A...	OMIM:118450
Genitopalatocardiac Syndrome	Postaxial hand polydactyly, Multicystic kidney dysplasia, Hypospadias, Brachydactyly	ORPHA:2075
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus...	ORPHA:2215
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac wing, Disloca...	OMIM:271640
Trichinellosis	Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Abnormal uvea m...	ORPHA:863
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
Mosaic Trisomy 8	Vesicoureteral reflux, Corneal opacity, Hydronephrosis	ORPHA:96061
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Hypospadias, Synophrys, Microcornea, Upslanted palpebral fissure, Ureterocele, Blepha...	OMIM:616734
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Renal hypoplasia, Renal cyst, ...	OMIM:210710
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr...	ORPHA:99901
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage	OMIM:606054
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Pes planus, Renal malrotation, Bowing of the legs, Pedal edema, Renal cyst, Bifi...	OMIM:617107
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Hypoplasia of penis, Cataract, Absent eyelashes, Blepharospasm,...	ORPHA:861
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Ho...	ORPHA:2886
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Oculodentodigital Dysplasia	Neurogenic bladder, Cataract, Epicanthus, Optic atrophy, Abnormality iris morphology, Microcornea...	ORPHA:2710
Mucopolysaccharidosis Type 4	Mucopolysacchariduria, Corneal opacity	ORPHA:582
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Overlapping toe, Genu recurvatum, Hip dislocation, Elbow flexion contracture, Ta...	OMIM:617301
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypospadias, Talipes equinovarus	OMIM:177980
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Oligosacchariduria, Talipes equinovarus, Camptodactyly, Clinodactyly, Brachydactyly	ORPHA:397709
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, Microphthalmia, Iris coloboma	ORPHA:2250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Pes planus, Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th fin...	OMIM:620098
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Tapered finger, Talipes equinovarus, Triphalan...	OMIM:618580
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Multicystic ...	OMIM:107480
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Joubert Syndrome 21	Hyperechogenic kidneys, Anophthalmia, Renal cyst	OMIM:615636
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Vesicoureteral reflux, Clinodactyly of ...	ORPHA:857
Meier-Gorlin Syndrome 1	Genu recurvatum, Coxa valga, Elbow dislocation, Aplasia/Hypoplasia of the patella, Flat glenoid f...	OMIM:224690
Constricting Bands, Congenital	Syndactyly, Hand polydactyly, Bladder exstrophy, Talipes equinovarus	OMIM:217100
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea...	OMIM:256800
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Aortic regurgitation, Sandal gap, Hypospadias, Deep plantar crease...	ORPHA:254346
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
9Q33.3Q34.11 Microdeletion Syndrome	Single transverse palmar crease, Epistaxis, Abnormality of the kidney, Patellar aplasia, Patellar...	ORPHA:495818
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Postaxial polydactyly, Tubular luminal dilatation, Renal corticomedullary cy...	OMIM:219730
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Pes planus, Single transverse palmar crease,...	OMIM:305400
Ophthalmoplegia, Familial Static	Anisocoria, Ptosis	OMIM:165000
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, High...	ORPHA:2322
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Redundant neck skin, Hypospadias, Proximal placement of thumb, Cardiomyopathy, Short ...	OMIM:217980
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Vesicoureter...	OMIM:619869
Schwartz-Jampel Syndrome	Micromelia, Coxa vara, Wrist flexion contracture, Abnormal metaphysis morphology, Hip contracture...	ORPHA:800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus...	OMIM:615287
Adult Syndrome	Finger syndactyly, Toe syndactyly, Skin ulcer, Melanocytic nevus, Split foot, Thin skin, Dry skin	ORPHA:978
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin, Blepharitis	OMIM:617718
Phosphoribosylaminoimidazole Carboxylase Deficiency	Clinodactyly of the 5th finger, Coronal hypospadias, Talipes equinovarus	OMIM:619859
Aicardi Syndrome	Retinal detachment, Cataract, Spina bifida, Chorioretinal lacunae, Optic disc coloboma, Optic atr...	OMIM:304050
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o...	ORPHA:783
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Bilateral talipes equinovarus, Ankle flexion contracture, Knee flexion contracture	ORPHA:284417
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Renal insufficiency, Epistaxis, Ocular albinism, Hematochezia, Cardiomyo...	OMIM:203300
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Renpenning Syndrome 1	Epicanthus, Cataract, Hypospadias, Telecanthus, Phimosis, Renal hypoplasia, Upslanted palpebral f...	OMIM:309500
Multiple Pterygium Syndrome, Escobar Variant	Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Hypospadias, Dysplastic p...	OMIM:265000
Methylcobalamin Deficiency Type Cble	Syndactyly, Glomerulopathy, Hemolytic-uremic syndrome, Hypertension, Clinodactyly	ORPHA:2169
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pulmonary hemorrhage, Uveit...	OMIM:608710
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Overlapping toe, Systolic heart murmur, Renal cyst	OMIM:617478
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Subarachnoid hemorrhage	OMIM:243700
Linear Nevus Sebaceus Syndrome	Microphthalmia, Telecanthus, Iris coloboma	ORPHA:2612
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Short femur, Glandular hypospadias, Talipes equinovarus, Short tibia	OMIM:620306
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr...	OMIM:277170
Wilson Disease	Kayser-Fleischer ring, Bruising susceptibility	ORPHA:905
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Synophrys, Bilateral microphthalmos, Lobar holoprosencep...	OMIM:610828
Acrofacial Dysostosis, Catania Type	Preauricular pit, Finger syndactyly, Brachydactyly, Hypospadias, Small hand, Short palm, Clinodac...	ORPHA:1786
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Optic atrophy, Developmental cataract, Microcornea, Hypoplasia ...	OMIM:133540
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke	ORPHA:447788
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Sacral dimple, Fetal intraventricular hemorrhage	OMIM:618480
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Single transverse palmar crease, Mitral stenosis, 2-3 ...	ORPHA:1596
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki...	OMIM:608328
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Holoprosencephaly, Microphthalmia, Cyc...	ORPHA:3186
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Arrhythmia	ORPHA:2151
Trisomy 9P	Abnormal pupil morphology, Downslanted palpebral fissures	ORPHA:236
Monosomy 18Q	Pes planus, Left-to-right shunt, Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger,...	ORPHA:1600
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Arachnodac...	ORPHA:2461
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Abnormal renal morphology, Polydactyly, Complete duplic...	ORPHA:59315
Ullrich Congenital Muscular Dystrophy 1	Increased laxity of ankles, Hip dislocation, Talipes equinovarus, Increased laxity of fingers	OMIM:254090
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Long toe, Pes planus, Bowing of the long bones, Arachnodactyly, Single transverse palmar crease, ...	OMIM:130070
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Aplasia/Hypoplasia of the skin, Small hand, Dermal atrophy, Short 4th metacarpal	ORPHA:1787
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t...	ORPHA:29072
Lathosterolosis	Epicanthus, Cataract, Myelomeningocele, Horseshoe kidney, Opacification of the corneal stroma, Do...	OMIM:607330
Microhydranencephaly	Talipes equinovarus	OMIM:605013
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Microphthalmia, Short palpebral fissure	OMIM:608670
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Telecanthus, Iris coloboma	ORPHA:1236
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Hypospadias, Abnormal palmar dermatoglyphics, Down-sloping shoulders, H...	OMIM:309800
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f...	OMIM:600987
Neu-Laxova Syndrome 1	Ablepharon, Cataract, Renal agenesis, Spina bifida, Absent eyelashes, Stillbirth, Short umbilical...	OMIM:256520
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Heparan sulfate excretion in u...	ORPHA:217085
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Entropion, Keratitis, Optic at...	ORPHA:910
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Unilateral renal agenesis	OMIM:620024
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ...	OMIM:614201
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Mend Syndrome	Sacral dimple, Redundant neck skin, Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndacty...	OMIM:300960
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Retinal dystrophy	ORPHA:370997
Pontocerebellar Hypoplasia, Type 8	Talipes valgus, Pes cavus, Talipes equinovarus	OMIM:614961
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Abn...	OMIM:200600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Coxa valga, Tapered finger, Micropenis, Talipes equinovarus, Radial ...	OMIM:301040
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Pes planus, Hypospadias, Single transverse palmar crease, Abnormali...	OMIM:123450
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Narrow palpebral fissure, Stillbir...	OMIM:229850
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Short foot, Mi...	OMIM:618454
Acromelic Frontonasal Dysostosis	Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hyp...	OMIM:603671
Congenital Fibrosis Of Extraocular Muscles	Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anisocoria, Congenital fi...	ORPHA:45358
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Bohring-Opitz Syndrome	Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l...	OMIM:605039
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Heparan sulfate excretion in u...	ORPHA:217093
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype...	ORPHA:731
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Redundant skin	ORPHA:1252
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Myelomen...	ORPHA:1756
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Cataract, Telecanthus, Abnormality of t...	ORPHA:2036
Mend Syndrome	Telecanthus, Cataract, Hydrocephalus, Upslanted palpebral fissure, Microphthalmia, Aortic valve s...	ORPHA:401973
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Atypical scarring of skin, ...	ORPHA:565
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage	OMIM:251000
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Lack of skin elasticity, Skin dimple	ORPHA:178303
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Renal hypoplasia, Short foot, Sh...	OMIM:269860
Adams-Oliver Syndrome 5	Cutis marmorata telangiectatica congenita, Syndactyly, Aplasia cutis congenita, Brachydactyly	OMIM:616028
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly	ORPHA:1514
Gaucher Disease	Abnormal bleeding, Death in infancy, Corneal opacity, Proteinuria, Hydrocephalus, Cherry red spot...	ORPHA:355
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra...	OMIM:601005
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Tricuspid regurgitation, Retinal dystrophy, Polycystic kidney dysplasia	OMIM:263520
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Micropenis, Hip dysplasia, Microphthal...	OMIM:300895
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Williams Syndrome	Hypoplasia of penis, Myocardial infarction, Abnormal tubulointerstitial morphology, Nephrocalcino...	ORPHA:904
Mednik Syndrome	Death in infancy, Cataract, Upslanted palpebral fissure, Death in childhood, Neonatal death	OMIM:609313
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pes planus, Broad hallux, Tapered finger, Short thumb, Hip dysplasia, Bilateral talipes equinovar...	OMIM:620224
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage	OMIM:618886
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar creases, Th...	OMIM:612394
Congenital Disorder Of Glycosylation, Type Ih	Talipes equinovarus, Camptodactyly	OMIM:608104
Oligoarticular Juvenile Idiopathic Arthritis	Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Dent Disease	Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,...	ORPHA:1652
Alg12-Cdg	Ulnar deviation of the wrist, Sandal gap, Proximal placement of thumb, Hypospadias, Redundant ski...	ORPHA:79324
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Myelomeningocele, Synophrys, Heterochromia iridis, Ptosis	ORPHA:3440
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Camptodactyly of finger	OMIM:616920
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Hydroureter, Corneal opacity, Abnormality of the kidney, Abnormality of the upper...	ORPHA:2273
Lethal Acantholytic Erosive Disorder	4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hypovolemic shoc...	ORPHA:158687
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Telecanthus, Upslanted palpebral fissure	ORPHA:228390
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ...	ORPHA:90652
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Erythema, Retinal hemorrhage, Hypertension, Bradycardia, Talipes equinovarus, Hand c...	OMIM:614653
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge...	OMIM:300963
Axial Osteomalacia	Renal cyst	OMIM:109130
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Nephrocalcinosis, Upslanted palpebral fissure, Astigmatism, Congenita...	ORPHA:369837
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Hypospadias, Long fingers, Cutaneous syndactyly, Overlapping fingers	OMIM:618316
Wolf-Hirschhorn Syndrome	Epicanthus, Hypospadias, Abnormality of the kidney, Sclerocornea, Highly arched eyebrow, Optic at...	ORPHA:280
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis	OMIM:301018
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas...	ORPHA:1507
Marfan Syndrome	Retinal detachment, Flat cornea, Lens luxation, Ectopia lentis, Congestive heart failure, Meningo...	ORPHA:558
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Short ...	OMIM:263750
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Hypospadias, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, An...	OMIM:180500
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Redundant skin, Premature skin wrinkling, Cutaneous finger synd...	OMIM:200110
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Renal cyst	OMIM:614862
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma	OMIM:613456
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting r...	ORPHA:47159
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Cutis Laxa, Autosomal Recessive, Type Iid	Redundant skin, Congestive heart failure, Hip dislocation, Cutis laxa, Right bundle branch block,...	OMIM:617403
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93259
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Pes planus, Single transver...	ORPHA:93932
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R...	OMIM:192315
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Iridocyclitis, Keratoconjunctivitis, Nephrocalcinosis, Perifoveal ring of hyperautofluo...	OMIM:240300
Collagenoma, Familial Cutaneous	Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con...	OMIM:115250
Mayer-Rokitansky-Küster-Hauser Syndrome	Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney	ORPHA:3109
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:2475
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abno...	ORPHA:107
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Corneal opacity, A...	ORPHA:580
Loeys-Dietz Syndrome 4	Pes planus, Arachnodactyly, Protrusio acetabuli, Talipes equinovarus, Striae distensae	OMIM:614816
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Meningocele, Nuclear cataract	ORPHA:1010
Trisomy 10P	Thumb contracture, Abnormality of the kidney, Abnormality of the hand, Abnormal foot morphology, ...	ORPHA:171929
Schisis Association	Encephalocele, Renal agenesis, Anencephaly, Spina bifida	ORPHA:63862
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hallux valgus, Dermal translucency, Bowing of the long bones, Renal neoplasm, Arachnodactyly, Pha...	ORPHA:536467
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete...	ORPHA:2911
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly	OMIM:618087
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Hip dislocation, Flattened epiphysis, Coxa vara, Talipes equinovarus, Del...	OMIM:183900
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Hypercalciuria, Nephrocalcinosis, Talipes equinovarus, Broad di...	OMIM:300990
Tangier Disease	Corneal opacity, Ectropion	ORPHA:31150
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot...	OMIM:619471
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Pericarditis, Proteinuria, Almond-shaped palpebral fissure, Renal cyst, Cardiom...	OMIM:212065
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Urinary incontinence, Urinary urgency, Ptosis	OMIM:146500
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Paresis of extensor muscles of the big toe, Pes cavus, Talipes equinovarus	ORPHA:98808
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Epiphyseal stippling, Short metacarpal, Talipes equinovarus, Short distal phalanx of finger	ORPHA:86822
Adams-Oliver Syndrome 1	Toe syndactyly, Hypertension, Pulmonary arterial hypertension, Talipes equinovarus, Pulmonic sten...	OMIM:100300
Congenital Disorder Of Deglycosylation 1	Corneal opacity, Heparan sulfate excretion in urine, 3-Methylglutaconic aciduria, Chondroitin sul...	OMIM:615273
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Hypospadias	ORPHA:66629
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Single transverse palmar crease, Proximal placement of thumb, Renal ag...	OMIM:113620
Marcus-Gunn Syndrome	Unilateral ptosis, Coloboma, Nephrolithiasis, Morning glory anomaly	ORPHA:91412
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Cubitus valgus, Ureteral triplication, Hydronephrosis	OMIM:104350
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C...	ORPHA:3260
Mucopolysaccharidosis, Type Iva	Keratan sulfate excretion in urine, Cervical myelopathy, Chondroitin sulfate excretion in urine, ...	OMIM:253000
Tetraamelia Syndrome 1	Cataract, Renal agenesis, Hydrocephalus, Urethral atresia, Microphthalmia	OMIM:273395
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin...	OMIM:259770
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Trichothiodystrophy	Epicanthus, Bilateral microphthalmos, Developmental cataract, Microcornea, Cardiomyopathy, Kerato...	ORPHA:33364
Syndromic Diarrhea	Aortic regurgitation, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Epicanthus, Transient ischemic attack, Optic nerve hypoplasia, Unilateral renal agenesis, Bilater...	ORPHA:500150
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Recurrent urinary tract infections, Abnormality of the kidney, Talipes equin...	ORPHA:847
Infantile Liver Failure Syndrome 3	Talipes equinovarus, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral ...	OMIM:618641
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Myocardial infarction, Pancreatic cysts, Myocarditis, Abnor...	ORPHA:892
Kindler Epidermolysis Bullosa	Urethral stricture, Corneal opacity, Phimosis, Neoplasm of the urethra, Conjunctivitis, Ectropion	ORPHA:2908
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Telecanthus, Unilateral renal agenesis, Developmental cataract, D-2-hydroxyglutaric aciduria, Dow...	ORPHA:99646
Neu-Laxova Syndrome	Cataract, Abnormal nasolacrimal system morphology, Spina bifida, Abnormal eyelid morphology, Abno...	ORPHA:2671
Optic Atrophy 11	Bilateral talipes equinovarus, Optic nerve hypoplasia	OMIM:617302
Degcags Syndrome	Bilateral renal hypoplasia, Pallor, Syndactyly, Hypospadias, Short thumb, Abnormal renal cortex m...	OMIM:619488
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Pes planus, Tricuspid regurgitation, Overlapping toe, Knee flexion contract...	OMIM:617402
Lethal Congenital Contracture Syndrome 10	Femoral bowing, Short long bone, Talipes equinovarus, Overlapping fingers, Adducted thumb	OMIM:617022
Kyphoscoliotic Ehlers-Danlos Syndrome	Pes planus, Congenital hip dislocation, Arachnodactyly, Abnormality of the hand, Cerebral hemorrh...	ORPHA:536545
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly ...	OMIM:620025
X Small Rings	Toe syndactyly, Tapered finger, Fetal pyelectasis, 2-3 toe syndactyly, Upper limb undergrowth, Cu...	ORPHA:96201
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Xanthelasma	OMIM:213700
Bardet-Biedl Syndrome 1	Syndactyly, Abnormality of the kidney, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi...	OMIM:209900
Hajdu-Cheney Syndrome	Telecanthus, Cataract, Mitral stenosis, Hypospadias, Hydrocephalus, Synophrys, Multiple renal cys...	ORPHA:955
Cystinosis, Adult Nonnephropathic	Abnormal retinal morphology, Corneal crystals	OMIM:219750
Phakomatosis Pigmentokeratotica	Nephroblastoma, Spina bifida, Raynaud phenomenon, Renal transitional cell carcinoma, Unilateral r...	ORPHA:2874
Larsen Syndrome	Spina bifida occulta, Corneal opacity, Shallow orbits	OMIM:150250
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Epicanthus, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosen...	ORPHA:1908
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Neuro...	OMIM:617137
Ring Chromosome 12 Syndrome	Syndactyly, Abnormal 5th finger morphology, Glandular hypospadias, Symphalangism of the thumb, Cl...	ORPHA:1439
Congenital Tufting Enteropathy	Optic disc coloboma, Corneal erosion, Cataract, Punctate keratitis	ORPHA:92050
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Long fingers, Bilateral talipes equinovar...	OMIM:617746
Apert Syndrome	Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys...	OMIM:101200
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Hypospadias, Hand polydactyly, Abnormal hip bone morpholo...	ORPHA:7
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Congenital Horner syndrome, Telecanthus, Unilateral renal agenesis...	OMIM:619503
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Portal hypertension, Renal hypoplasia, Blepharophimosis, Pulmonary arterial hypertensio...	OMIM:620005
Hallermann-Streiff Syndrome	Telecanthus, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Uveitis, Developmental c...	ORPHA:2108
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Hypertension, Leukocoria, Telangiectasia	OMIM:219250
Opitz-Kaveggia Syndrome	Skin tags, Syndactyly, Sacral dimple, Broad hallux, Single transverse palmar crease, Hypospadias,...	OMIM:305450
Pallister-Hall Syndrome	Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Holoprosencepha...	ORPHA:672
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Increased density of long bones, Single transverse palmar crease, Hypospadias,...	OMIM:269150
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, Hydrocephalus, ST...	OMIM:261740
Cataract 16, Multiple Types	Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract	OMIM:613763
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Papilledema, Corneal opacity, Hydrocephalus, Pulmonary arterial...	ORPHA:2072
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius	ORPHA:246
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Talipes, Renal hypoplasia/aplasia, Postaxial hand polydactyly, ...	ORPHA:2166
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Microphthalmia, Papilledema, Developmental cataract	OMIM:127000
Alg9-Cdg	Hypoplasia of the bladder, Ulnar deviation of the hand, Rhizomelia, Ureteral hypoplasia, Tricuspi...	ORPHA:79328
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal dysplasia, Renal insufficiency, Abnormal acetabulum morphology, Hypospadias, Redundant neck...	ORPHA:397715
D-Bifunctional Protein Deficiency	Hammertoe, Split hand, Talipes equinovarus, Renal cyst	OMIM:261515
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Renal agenesis, Renal hypoplasia/aplasia, Central Y-shaped met...	ORPHA:2754
Carpenter Syndrome 2	Short digit, Tricuspid regurgitation, Single transverse palmar crease, Postaxial polydactyly, Pre...	OMIM:614976
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Aminoaciduria, Ketonuria	OMIM:614520
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Syndactyly, Hypermelanotic macule, Broad palm, Clinodactyly of the 5th finger, Cafe-au-lait spot	OMIM:618505
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Tapered finger, Talipes equinovarus, Short palm, Aortic valve stenosis, Broad thumb	OMIM:614501
Cranioectodermal Dysplasia 2	Syndactyly, Renal insufficiency, Rhizomelia, Postaxial hand polydactyly, Renal cyst, Cutis laxa, ...	OMIM:613610
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell c...	ORPHA:2869
Fountain Syndrome	Epicanthus, Spina bifida, Synophrys, Spina bifida occulta, Thick eyebrow, Ptosis	ORPHA:3219
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Papule, Hypermelanotic macule, Raynaud phenomenon...	ORPHA:740
Split Cord Malformation	Pes planus, Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia...	ORPHA:573278
Kbg Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly	ORPHA:2332
Meier-Gorlin Syndrome 3	Hypospadias, Aplasia/Hypoplasia of the patella, Patellar aplasia, Coxa vara, Patellar hypoplasia,...	OMIM:613803
Isolated Klippel-Feil Syndrome	Spina bifida, Renal hypoplasia/aplasia	ORPHA:2345
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis...	OMIM:614701
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Frontonasal Dysplasia 2	Encephalocele, Telecanthus, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure, Blepha...	OMIM:613451
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Genu recurvatum, Bilateral talipes equinovarus, Broad thumb	OMIM:619775
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Mucopolysaccharidosis Type 6	Mucopolysacchariduria, Opacification of the corneal stroma	ORPHA:583
Mowat-Wilson Syndrome	Cataract, Hypospadias, Abnormality of the kidney, Microcornea, Ectopia pupillae, Pulmonic stenosi...	OMIM:235730
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Talipes equinovarus	OMIM:619752
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
X-Linked Intellectual Disability, Nascimento Type	Overlapping toe, Hypospadias, Mitral stenosis, Clubbing of toes, Short foot, Bilateral talipes eq...	ORPHA:163956
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Renal hypoplasia/aplasia, Split ...	ORPHA:958
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to...	ORPHA:3255
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Pearson Syndrome	Renal insufficiency, Cataract, Proteinuria, Cardiac conduction abnormality, Lacticaciduria, Renal...	ORPHA:699
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Mitral regurgitation, Pulm...	OMIM:277600
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Arachnodactyly, Osteopathia striata, Fibular hypoplasia, Talipes eq...	OMIM:300373
Jaberi-Elahi Syndrome	Hand clenching, Talipes equinovarus	OMIM:617988
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Postaxial hand polydactyly, Cystic renal dysplasia, Micromelia	OMIM:200995
Shprintzen-Goldberg Craniosynostosis Syndrome	Pes planus, Arachnodactyly, Genu recurvatum, Metatarsus adductus, Metaphyseal widening, Genu valg...	OMIM:182212
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Renal cyst	OMIM:602579
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Pes planus, Tricuspid regurgitation, Cutis laxa, Bladder diverticulum, Mitral regurgitation, Tali...	OMIM:614557
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Hyper...	OMIM:613159
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones	ORPHA:1323
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal a...	OMIM:617913
Miller-Dieker Lissencephaly Syndrome	Sacral dimple, Single transverse palmar crease, Deep palmar crease, Polydactyly, Pelvic kidney, C...	OMIM:247200
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure...	ORPHA:2907
Synaptic Congenital Myasthenic Syndromes	Abnormality of the knee, Scapular winging, Limited wrist extension, Hand muscle weakness, Talipes...	ORPHA:98915
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Long palm, Single transverse palmar crease, Long fingers...	OMIM:309583
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Portal hypertension, Pancreatic cysts, Renal cyst, Pedal edema, ...	ORPHA:284
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Talipes equinovarus	OMIM:617865
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli...	ORPHA:1005
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
C Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Talipes, Micromelia, Redundant skin, Renal hypoplas...	ORPHA:1308
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Highly arched eyebrow, Heart murmur, Anisocoria, Narrow palpebral fissure, Vesicouret...	OMIM:618653
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Proximal placeme...	ORPHA:1896
Loeys-Dietz Syndrome 5	Pes planus, Scapular winging, Arachnodactyly, Increased arm span, Mitral regurgitation, Talipes e...	OMIM:615582
Hydrolethalus Syndrome 1	Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hal...	OMIM:236680
Neonatal Marfan Syndrome	Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Mitral regurgitation, Megalo...	ORPHA:284979
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Proximal renal tubular acidosis, Postaxial polydactyly	OMIM:615824
Larsen Syndrome	Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of...	ORPHA:503
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Pes planus, Congestive heart failure, Hip dislocation, Elbow flexion contracture, Arterial ruptur...	ORPHA:1900
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hi...	OMIM:300968
Rift Valley Fever	Abnormal bleeding, Miscarriage, Retinitis, Hematemesis, Retinal hemorrhage, Uveitis, Macular edem...	ORPHA:319251
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Hypovolemia, Stage 5 chronic kidney dis...	ORPHA:411634
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Hypospadias, Short greater sciatic notch, C...	OMIM:312870
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Koolen-De Vries Syndrome Due To A Point Mutation	Ptosis, Recurrent urinary tract infections, Epicanthus, Hypospadias, Spina bifida, Blepharophimos...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ptosis, Recurrent urinary tract infections, Epicanthus, Hypospadias, Spina bifida, Blepharophimos...	ORPHA:363958
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Band keratopathy, Uveitis, Hypertension, Iritis...	OMIM:186580
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Hand polydactyly	ORPHA:261197
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Lower limb asymmetry, Horseshoe kidney...	ORPHA:96182
Hamamy Syndrome	Long toe, Syndactyly, Prolonged QRS complex, Down-sloping shoulders, Tapered finger, Long fingers...	OMIM:611174
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Long foot, Broad 2nd toe, Palmo...	OMIM:280000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo...	OMIM:617925
Nelson Syndrome	Intracranial hemorrhage, Hypertension, Striae distensae	ORPHA:199244
Orofaciodigital Syndrome V	Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kidney, Postaxial foot p...	OMIM:174300
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Talipes equinovarus	ORPHA:171695
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Aplasia/Hypoplasia of the middl...	OMIM:151050
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Deep plantar creases, Hypertro...	ORPHA:1517
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninuria, Homocystinuria, Talipes equinovarus, Methylmalonic aciduria	OMIM:277380
Glass Syndrome	Talipes equinovarus, Arachnodactyly, Anterior tibial bowing, Camptodactyly	OMIM:612313
Joubert Syndrome 5	Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re...	OMIM:610188
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Gaucher Disease, Type Iiic	Hydrocephalus, Mitral stenosis, Opacification of the corneal stroma	OMIM:231005
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myocarditis, Nephropathy, Ker...	ORPHA:809
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Subdural hemorrhage, Cerebral hemorrhage	OMIM:620278
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Cataract, Sudden cardiac death, Pulmo...	ORPHA:744
Oeis Complex	Duplicated collecting system, Congenital hip dislocation, Hydroureter, Renal agenesis, Epispadias...	OMIM:258040
Myhre Syndrome	Overlapping toe, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Hypertension, Short long b...	OMIM:139210
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Tricuspid regurgitation, Micropenis, Mesomelia, Camptodactyly, Vesicoureteral reflux,...	OMIM:616894
Barber-Say Syndrome	Brachydactyly, Redundant skin, Talipes equinovarus, Clinodactyly of the 5th finger, Premature ski...	OMIM:209885
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fingers, Achilles tendon con...	OMIM:616263
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Cataract, Corneal opacity, Hypospadias, Entropion, Lagophthal...	ORPHA:3455
Momo Syndrome	Epicanthus, Bilateral microphthalmos, Eyelid coloboma, Chorioretinal coloboma, Downslanted palpeb...	ORPHA:2563
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Epicanthus, Sparse eyebrow, Optic disc coloboma, Lacrimal duct aplasia, Microphth...	OMIM:620186
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Short toe, Cutaneous syndactyly, Ureteral agenesi...	OMIM:617667
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia o...	ORPHA:3404
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage, Talipes equinovarus, Tapered finger	OMIM:613603
Hellp Syndrome	Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Kinsship Syndrome	Sacral dimple, Single transverse palmar crease, Coxa valga, Hip dislocation, Renal hypoplasia, Fi...	OMIM:619297
Cockayne Syndrome A	Renal insufficiency, Cataract, Proteinuria, Retinal atrophy, Retinal pigment epithelial mottling,...	OMIM:216400
Mosaic Trisomy 16	Syndactyly, Hypospadias, Single transverse palmar crease, Short thumb, Horseshoe kidney, Short fe...	ORPHA:1708
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Long fingers, Talipes equinovarus, Chalazion, Pulmonary arterial hypertensi...	OMIM:613355
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia	OMIM:619774
Miller Fisher Syndrome	Anisocoria, Ptosis, Mydriasis	ORPHA:98919
Fetal Alcohol Syndrome	Microphthalmia, Epicanthus, Telecanthus, Ptosis	ORPHA:1915
Chromosome 17P13.1 Deletion Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, Hydrocephalus, Synophrys, Narrow pa...	OMIM:613776
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Short toe, Genu va...	OMIM:616145
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Limited wrist ...	ORPHA:576
Culler-Jones Syndrome	Micropenis, Postaxial polydactyly	OMIM:615849
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Arachnodactyly, Talipes equinovarus	OMIM:619036
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of the ureter, Palmoplantar hyperkeratosis, Bilate...	ORPHA:3253
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormality of the ureter, Hypospadias, Camptodactyly of finger	ORPHA:2311
Robinow Syndrome	Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Bifid distal phalanx of the thumb, Mesom...	ORPHA:97360
Spastic Paraplegia 51, Autosomal Recessive	Talipes equinovarus	OMIM:613744
Vater/Vacterl Association	Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th...	OMIM:192350
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Talipes equinovarus, Bro...	OMIM:301066
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Partial duplication o...	OMIM:164210
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Hypospadias, P...	ORPHA:2211
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Enuresis	ORPHA:289483
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Cystocele, Keratoconjunctivitis sicca, Umbilical hernia, Arrhythmia, Ptosis	ORPHA:285
Rapp-Hodgkin Syndrome	Syndactyly, Hypospadias, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Dry skin	OMIM:129400
Congenital Disorder Of Glycosylation, Type If	Dry skin, Scaling skin, Renal cortical cysts	OMIM:609180
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb...	ORPHA:989
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Chondrodysplasia Punctata, Autosomal Dominant	Knee flexion contracture, Hip contracture, Talipes equinovarus, Epiphyseal stippling	OMIM:118650
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Cataract, Recurrent urinary tract infections, Congestive h...	ORPHA:90349
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Corneal ...	OMIM:309000
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the kidne...	ORPHA:1606
Seckel Syndrome 9	Recurrent urinary tract infections, Talipes equinovarus	OMIM:616777
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Congenital Disorder Of Glycosylation, Type 2V	Talipes equinovarus	OMIM:619493
Trichohepatoneurodevelopmental Syndrome	Overlapping toe, Hip dislocation, Absent Achilles reflex, Short foot, Fibular bowing, Hip dysplas...	OMIM:618268
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Erythema, Telangiectasia, Scaling skin	ORPHA:420741
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Abnormal retinal vascular morphology...	ORPHA:33226
Peroxisome Biogenesis Disorder 1B	Epiphyseal stippling, Hyperoxaluria, Renal cyst	OMIM:601539
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity	ORPHA:79396
Classical Ehlers-Danlos Syndrome	Pes planus, Orthostatic hypotension, Phalangeal dislocation, Abnormal foot morphology, Hip disloc...	ORPHA:287
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal bleeding, Telecanthus, Hypoplastic lacrimal duct, Telangiectasia of the ski...	ORPHA:286
Kbg Syndrome	Syndactyly, Single transverse palmar crease, Epispadias, Cutaneous syndactyly, Radial deviation o...	OMIM:148050
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Single transverse palmar crease, Hypoplastic iliac ...	OMIM:180849
Carey-Fineman-Ziter Syndrome 1	Pulmonary arterial hypertension, Pectoralis hypoplasia, Talipes equinovarus, Tapered finger	OMIM:254940
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Vesicoureteral reflux, Clinodactyly...	ORPHA:199
Wilson Disease	Hyperphosphaturia, Proteinuria, Nephrolithiasis, Hypercalciuria, Renal tubular dysfunction, Kayse...	OMIM:277900
16P13.11 Microdeletion Syndrome	Metatarsus valgus, Camptodactyly of finger, Talipes equinovarus	ORPHA:261236
Prader-Willi Syndrome	Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Micropenis, Hip dysplas...	OMIM:176270
Relapsing Polychondritis	Glomerulopathy, Pericarditis, Cataract, Renal insufficiency, Proteinuria, Keratitis, Myocarditis,...	ORPHA:728
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Holoprosencephaly, Chorioretin...	OMIM:157170
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Urinary incontinence, Abnormal toe mor...	ORPHA:404448
Cystic Echinococcosis	Membranous nephropathy, Hepatic cysts, Renal cyst, Ovarian cyst	ORPHA:400
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Cataract, Keratitis, Iridocyclitis, Nephropathy, R...	ORPHA:90340
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage	OMIM:616430
Schinzel-Giedion Syndrome	Overlapping toe, Hypospadias, Nephroblastoma, Hypoplastic pubic bone, Abnormality of the ureter, ...	ORPHA:798
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po...	ORPHA:2751
Superficial Siderosis	Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m...	ORPHA:247245
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio...	OMIM:613795
Acrocallosal Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Duplication of thumb phalanx, Tapered finger, Bif...	OMIM:200990
Tetrasomy 9P	Renal dysplasia, Pericarditis, Hypoplastic scapulae, Recurrent urinary tract infections, Raynaud ...	ORPHA:3310
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Aplasia/Hypoplasia of the skin, Hypospadias, Redund...	ORPHA:2658
Prader-Willi Syndrome Due To Translocation	Pes planus, Overlapping toe, Abnormality of the kidney, Small hand, Short foot, Bilateral talipes...	ORPHA:177907
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Branchial fistula, Epicanthus, Cataract, Hypospadias, Phimosis, An...	OMIM:613406
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Stroke, Pulmonary arterial hyper...	ORPHA:79282
Amish Lethal Microcephaly	Death in infancy, Organic aciduria, Optic atrophy, Spina bifida	ORPHA:99742
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Arachnodactyly, Nephrotic syndrome, Mitral regurgi...	OMIM:601776
Cerebrocostomandibular Syndrome	Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Ectopic kidney, Elbow ...	OMIM:117650
Cree Mental Retardation Syndrome	Downslanted palpebral fissures, Coloboma, Hypospadias, Ptosis	OMIM:606851
Sclerosteosis 1	Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C...	OMIM:269500
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Intracranial hemorrhage, Patent ductus arteriosus, Heart murmur, Interrupted aortic arch	ORPHA:163979
Lateral Meningocele Syndrome	Neurogenic bladder, Telecanthus, Hydrocephalus, Meningocele, Umbilical hernia, Downslanted palpeb...	OMIM:130720
Choanal Atresia	Polydactyly	ORPHA:137914
Autosomal Recessive Spastic Paraplegia Type 55	Talipes equinovarus, Tibialis muscle weakness	ORPHA:320375
Rabson-Mendenhall Syndrome	Long penis, Nephrocalcinosis, Polydactyly, Dry skin, Lichenoid skin lesion	ORPHA:769
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Patellar aplasia, Infe...	OMIM:606170
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Pollakisuria, Ca...	OMIM:227330
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand, Lip pit	ORPHA:1300
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Sudden cardiac death, Spina bifida...	ORPHA:991
8P11.2 Deletion Syndrome	Hypoplasia of penis, Talipes equinovarus	ORPHA:251066
Osteogenesis Imperfecta	Aortic regurgitation, Corneal opacity, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydro...	ORPHA:666
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca...	ORPHA:99880
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Monosomy 9P	Hypospadias, Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydac...	ORPHA:261112
Dpagt1-Cdg	Intracranial hemorrhage, Skin dimple, Prolonged QT interval, Stroke-like episode	ORPHA:86309
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio...	ORPHA:3206
Legius Syndrome	Nephrolithiasis, Multiple cafe-au-lait spots, Diaphyseal dysplasia, Xanthelasma, Polydactyly, Mal...	ORPHA:137605
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Pes planus, Optic nerve hypoplasia, Postaxial polydactyly, Hip dysplasia, Talipes equinovarus, Ve...	ORPHA:453504
Revesz Syndrome	Exudative retinopathy, Megalocornea, Leukocoria	OMIM:268130
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Pes planus, Optic nerve hypoplasia, Postaxial polydactyly, Hip dysplasia, Talipes equinovarus, Ve...	ORPHA:352665
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor...	ORPHA:50
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Retinal pigment epithelial mottlin...	OMIM:219800
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dilatation of the renal pelvis, Overlapping fingers, Bilateral talipes equinovarus, Knee flexion ...	OMIM:619708
Ehlers-Danlos Syndrome, Vascular Type	Dermal translucency, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cystocele,...	OMIM:130050
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca...	ORPHA:143
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Multiple cafe-au-lait spots, Clinoda...	ORPHA:69085
Retinal Arteries, Tortuosity Of	Retinal arteriolar tortuosity, Retinal hemorrhage	OMIM:180000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelv...	ORPHA:93271
Medulloblastoma	Cerebellar hemorrhage	ORPHA:616
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly	OMIM:603387
Bloom Syndrome	Syndactyly, Spotty hypopigmentation, Facial erythema, Hand polydactyly, Clinodactyly of the 5th f...	OMIM:210900
Loeys-Dietz Syndrome 2	Syndactyly, Pes planus, Dermal translucency, Arachnodactyly, Protrusio acetabuli, Postaxial polyd...	OMIM:610168
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t...	ORPHA:794
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Finger syndactyly, Melanocytic nevus, Genu varum	ORPHA:1969
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Synophrys, N...	OMIM:612474
Developmental And Epileptic Encephalopathy 89	Limb undergrowth, Talipes equinovarus	OMIM:619124
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Short palpebral fissure, Opacification of the corneal stroma, De...	OMIM:601559
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:187900
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Spina bifida, Abnormality of the kidn...	ORPHA:322
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension, Ptosis	OMIM:615510
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Pes planus, Hypospadias, Tapered finger, Renal hypoplasia, Talipes calcaneovalgus, Genu valgum, M...	OMIM:309580
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Orthostatic hypotension, Optic atrophy	OMIM:231550
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Mpdu1-Cdg	Scaling skin, Renal cortical cysts	ORPHA:79323
Hydranencephaly	Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr...	ORPHA:2177
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Wolf-Hirschhorn Syndrome	Rieger anomaly, Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hallux...	OMIM:194190
Rett Syndrome, Congenital Variant	Pes planus, Talipes equinovarus	OMIM:613454
Helsmoortel-Van Der Aa Syndrome	Broad hallux, Sandal gap, Tapered finger, Small hand, Genu valgum, Enuresis nocturna, Polydactyly...	OMIM:615873
Au-Kline Syndrome	Sacral dimple, Overlapping toe, Postaxial polydactyly, Coxa valga, Chronic kidney disease, Vesico...	OMIM:616580
Costello Syndrome	Hyperextensibility of the finger joints, Renal insufficiency, Redundant neck skin, Limited elbow ...	OMIM:218040
Halperin-Birk Syndrome	Hip dislocation, Talipes equinovarus	OMIM:618651
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hypertension, Bro...	ORPHA:87
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Progeroid Short Stature With Pigmented Nevi	Cataract, Hypospadias, Allergic conjunctivitis, Chordee, Aortic valve stenosis	OMIM:176690
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Spina bifida, Myelomeningocele, Meningocele, Hydr...	ORPHA:1393
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Popliteal Pterygium Syndrome	Cutaneous finger syndactyly, Talipes equinovarus	OMIM:119500
Fontaine Progeroid Syndrome	Syndactyly, Dermal translucency, Tricuspid regurgitation, Redundant skin, Pulmonary arterial hype...	OMIM:612289
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Von Hippel-Lindau Syndrome	Pancreatic cysts, Hypertension, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Facial Spasm	Anisocoria	OMIM:134300
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Tricuspid regurgitation, Spina bifida	ORPHA:1120
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Renal agenesis, Coronal hypospad...	OMIM:149730
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Renal cyst, Re...	OMIM:613254
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage	ORPHA:91350
Japanese Encephalitis	Genu recurvatum, Elbow flexion contracture, Distal upper limb muscle weakness, Talipes equinovaru...	ORPHA:79139
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis, Lisch nodules	OMIM:162200
Lumbar Syndrome	Renal agenesis, Hypospadias, Spina bifida, Myelomeningocele, Vesicoureteral reflux, Micropenis, B...	ORPHA:83628
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, ...	ORPHA:2990
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypospadias, Hypoplastic ilia, Long fingers, Long penis, Dr...	OMIM:264090
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro...	ORPHA:90062
Lethal Congenital Contracture Syndrome 9	Ulnar deviation of the hand, Talipes equinovarus, Joint contracture of the hand, Wrist flexion co...	OMIM:616503
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Finger syndactyly, Hypoplasia of penis, Sacral dimple, Hypospadias, Ca...	ORPHA:3107
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Arachnoid Cyst	Subarachnoid hemorrhage	ORPHA:2356
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Bilateral talipes equinovarus, 2-3 toe syndactyly, Pes valgus, Equinus calcaneus	ORPHA:522077
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ...	ORPHA:79280
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Talipes cavus equinovarus, Prominent protruding coccyx, Hip dysplasia, Prominent coccyx, Short digit	OMIM:300966
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Coxa valga, Congestive heart failure, Hip dislocation, Osteo...	OMIM:182250
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Clubbing, Clinodactyly of the 5th finger, Mic...	ORPHA:96123
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Hydroceph...	ORPHA:538
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Congenital hip dislocation, Ankle flexion contracture, Elbow flexion contracture...	ORPHA:2020
Otopalatodigital Syndrome, Type Ii	Cataract, Hypospadias, Spina bifida, Hydrocephalus, Stillbirth, Umbilical hernia, Downslanted pal...	OMIM:304120
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl...	OMIM:617527
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, Iris colobo...	ORPHA:261537
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Bilateral Polymicrogyria	Talipes equinovarus	ORPHA:268940
Loeys-Dietz Syndrome 1	Arachnodactyly, Postaxial hand polydactyly, Talipes equinovarus, Camptodactyly, Dermal translucency	OMIM:609192
Yunis-Varon Syndrome	Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Short metatarsa...	OMIM:216340
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kidney, Cone-shaped epiphysis, Short...	OMIM:617088
Wrinkly Skin Syndrome	Pes planus, Scapular winging, Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin ...	OMIM:278250
Refractory Anemia With Excess Blasts	Abnormal bleeding, Palpitations, Retinal hemorrhage	ORPHA:86839
Idiopathic Aplastic Anemia	Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding	ORPHA:88
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Long fingers, Fetal pyelectasis, Bilateral talipes equinovarus, Clino...	OMIM:619512
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Abetalipoproteinemia	Congestive heart failure, Distal lower limb muscle weakness, Pes cavus, Talipes equinovarus	ORPHA:14
Isolated Cleft Lip	Talipes equinovarus	ORPHA:199302
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Hypospadias, Methylmalonic aciduria, 3-Methylglutaconic aciduria, Pol...	ORPHA:17
Mowat-Wilson Syndrome	Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, Iris colobo...	ORPHA:2152
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ectopic kidney, Short toe, Clinodactyly of the 5th finger, Arrhythmia, Brachyd...	ORPHA:1519
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, L...	OMIM:619472
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Preauricular skin tag, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:616682
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Slende...	OMIM:208150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Hypospadias, Single transverse palmar crease, Congestive heart failure, Hea...	OMIM:619475
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Renal agenesis, Horseshoe kidney, Short long bone, Bilateral talipes ...	OMIM:306955
Sirenomelia	Renal hypoplasia/aplasia, Abnormality of the urinary system, Spina bifida, Sirenomelia	ORPHA:3169
Iniencephaly	Rocker bottom foot, Renal agenesis, Rhizomelia, Talipes equinovarus	ORPHA:63259
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Myocardial infar...	OMIM:150230
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Vesicoureteral reflux, Syndactyly, Broad hallux, Hypospadias, Abnormality of the kidney, Widened ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Vesicoureteral reflux, Syndactyly, Broad hallux, Hypospadias, Abnormality of the kidney, Widened ...	ORPHA:353277
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Downslanted palpebral fissures, Subretinal pigment epithelium hemorrhage	ORPHA:357074
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Native American Myopathy	Talipes equinovarus, Camptodactyly	ORPHA:168572
Peters-Plus Syndrome	Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement...	OMIM:261540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Cog1-Cdg	Rhizomelia, Coxa valga, Flat acetabular roof, Short long bone, Talipes equinovarus, Pulmonary art...	ORPHA:263508
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Cataract, Hypospadias, Cardiac conduction abnormality, Nephro...	ORPHA:353281
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Desmosterolosis	Joint contracture of the hand, Rhizomelia, Bilateral talipes equinovarus	OMIM:602398
Sotos Syndrome	Hip contracture, Pes planus, Ureteral duplication, Hypospadias, Renal insufficiency, Ankle flexio...	ORPHA:821
Meningioma	Syncope, Cerebral hemorrhage	ORPHA:2495
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Preauricular skin tag, Preauricular pit, Polydactyly	OMIM:301022
Sacral Defect With Anterior Meningocele	Urinary retention, Bilateral talipes equinovarus, Neurogenic bladder	OMIM:600145
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Occipital meningo...	ORPHA:268810
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Polyuria, Hematochezia, Coloboma, Renal dysplasia	OMIM:618183
Hartsfield Syndrome	Syndactyly, Micropenis, Ectrodactyly, Hypospadias	OMIM:615465
Intellectual Developmental Disorder, Autosomal Dominant 38	Talipes equinovarus	OMIM:616393
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Ectopic kidney, Abnormal foot morphology, Horseshoe k...	ORPHA:2136
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1974
Beckwith-Wiedemann Syndrome	Ureteral duplication, Redundant skin, Nephroblastoma, Nephrolithiasis, Hypercalciuria, Congenital...	ORPHA:116
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature	ORPHA:1521
Acute Transverse Myelitis	Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage	ORPHA:139417
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Aplasia/Hypoplasia of the phalanges of the 2nd...	ORPHA:79500
Faciocardiomelic Syndrome	Slender long bone, Polydactyly, Hypoplastic pelvis	OMIM:612731
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Syndactyly, Renal insufficiency, Tricuspid regurgitation, Aortic regurgitation, Cardi...	OMIM:619534
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Orofaciodigital Syndrome Type 4	Finger syndactyly, Renal agenesis, Camptodactyly of finger, Micromelia, Renal hypoplasia/aplasia,...	ORPHA:2753
Okamoto Syndrome	Redundant neck skin, Urinary incontinence, Unilateral renal hypoplasia, Hip dysplasia, Polydactyl...	ORPHA:2729
Holoprosencephaly 1	Alobar holoprosencephaly, Micropenis, Microphthalmia, Cyclopia, Ethmocephaly	OMIM:236100
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Sacral dimple, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly,...	ORPHA:480880
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus	OMIM:601374
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Hypospadias, Chordee, Micropenis, Urogenital sinus anomaly	OMIM:618820
Pallister-Killian Syndrome	Telecanthus, Cataract, Hypospadias, Sparse eyelashes, Epicanthus, Sparse eyebrow, Renal cyst, Ups...	OMIM:601803
Coffin-Siris Syndrome 12	Hypospadias, Short thumb, Slender finger, Horseshoe kidney, Cutaneous syndactyly, Heart murmur, R...	OMIM:619325
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Bilateral microphthalmos, Lower eyelid coloboma, ...	OMIM:154500
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Cardiomyopathy, Vesicoureteral reflux, N...	OMIM:130650
Pmm2-Cdg	Pericarditis, Cataract, Angina pectoris, Proteinuria, Epicanthus, Intracranial hemorrhage, Nephro...	ORPHA:79318
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Transient ischemic attack, Choroidal neovascularization, Abnormal retinal arte...	ORPHA:51608
Congenital Myopathy 13	Bilateral talipes equinovarus	OMIM:255995
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Optic nerve hypoplasia, Long fingers, Cutaneous syndactyly, Toe clinodactyly, Hydrone...	OMIM:620330
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma	ORPHA:1071
Orofaciodigital Syndrome Xiv	Broad hallux, Epispadias, Postaxial hand polydactyly, Preaxial polydactyly, Unilateral renal hypo...	OMIM:615948
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Epicanthus, Downslanted palpebral fissures, Spina bifida	OMIM:619480
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Phocomelia, Schinzel Type	Hypoplasia of penis, Meningocele	ORPHA:2879
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Abnormal digit morphology	ORPHA:95494
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, Epicanthus, Hypospadias	OMIM:276820

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Grip1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Grip1.

No publications found that use IMPC mice or data for Grip1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Grip1^{tm79363(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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