Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Orbital Margin, Hypoplasia Of |
|
Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia |
OMIM:165600 |
Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Ankyloblepharon, Cryptophthalmos |
OMIM:123570 |
Polydactyly, Preaxial Iv |
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1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... |
ORPHA:2334 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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2-3 toe syndactyly, Cryptophthalmos, Anophthalmia, Epicanthus, Long eyelashes, Microcornea, Catar... |
OMIM:615877 |
Polydactyly, Postaxial, Type A1 |
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Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Anterior Segment Dysgenesis 3 |
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Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypoplasia of penis, Postaxial hand polydacty... |
ORPHA:2935 |
Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Optic atrophy, Epicanthus, Iris cyst, Ptosis, Hypoplasia of the fovea, Upslanted palpebral fissure |
OMIM:620086 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Absent lacrimal punctum, Widow's pe... |
OMIM:167730 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis, Developmental glaucoma, Telecanthus, Aniridia |
OMIM:206750 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:616428 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Dermochondrocorneal Dystrophy |
|
Corneal dystrophy, Large hands, Abnormality of the hand |
ORPHA:79149 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Vesicoureteral reflux, Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, ... |
ORPHA:137902 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Oculotrichoanal Syndrome |
|
Cryptophthalmos, Anophthalmia, Upper eyelid coloboma, Microphthalmia, Abnormal hair pattern, Naso... |
ORPHA:2717 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Fraser Syndrome 2 |
|
Aplasia of the bladder, Renal agenesis, Renal hypoplasia, Cryptophthalmos |
OMIM:617666 |
Aniridia 1 |
|
Corneal erosion, Bilateral ptosis, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal n... |
OMIM:106210 |
Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... |
OMIM:174400 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly, Long palpebral fissure |
ORPHA:1527 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, 2-3 toe syndactyly, Choanal stenosis, Hypoplasia of the brainstem, Narrow nasa... |
OMIM:236500 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, Coarse metaphyseal trabecularization, Abnormal pelvic girdle b... |
ORPHA:2779 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Downslanted palpebral fissures, Conductive hearing impairment, Finger sy... |
ORPHA:246 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Cataract, Chorioretinal coloboma |
OMIM:274205 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Stage 5 chronic kidney disease, Retinal dystrophy, Cataract, Brachydactyly, R... |
OMIM:615995 |
Edict Syndrome |
|
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Microphthalmia, Brachydactyly |
OMIM:233270 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Gms Syndrome |
|
Downslanted palpebral fissures, Rieger anomaly, Tricuspid regurgitation, Epicanthus |
ORPHA:2090 |
Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Congenital diaphragmatic hernia, Anophthalmia |
OMIM:615524 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618219 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Hyperpigmented nevi, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral micr... |
OMIM:607597 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... |
ORPHA:163934 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Displacement of the urethral meatus |
ORPHA:893 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
Waardenburg Syndrome, Type 2A |
|
Synophrys, White eyelashes, White eyebrow, Hypoplastic iris stroma, Heterochromia iridis |
OMIM:193510 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Bartsocas-Papas Syndrome |
|
Absent thumb, Aplasia/Hypoplasia of the eyebrow, Finger syndactyly, Ankyloblepharon, Renal hypopl... |
ORPHA:1234 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Renal agenesis, Broad thumb, Chorioretinal coloboma, Type B brachydactyl... |
ORPHA:1471 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Epicanthus, Synophrys, Radioulnar synostosis, Clinod... |
ORPHA:3268 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Short phalanx of finger, Short metacarpal, Blepharophimosis, Hypoplasia of the iris, Abnormal pel... |
ORPHA:1422 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly, Renal insufficiency |
OMIM:615991 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
2-3 toe syndactyly, Horizontal eyebrow, Short 5th finger, Long eyelashes, Clinodactyly of the 5th... |
OMIM:618608 |
Short Tarsus With Absence Of Lower Eyelashes |
|
Absent lower eyelashes, Hypoplasia of the lower eyelids |
OMIM:600269 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis |
ORPHA:1068 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Intermediate Uveitis |
|
Tubulointerstitial nephritis, Macular edema, Vitreous haze, Posterior synechiae of the anterior c... |
ORPHA:279914 |
Cryptorchidism, Unilateral Or Bilateral |
|
Renal agenesis |
OMIM:219050 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Acrofacial Dysostosis, Cincinnati Type |
|
Flared lower limb metaphysis, Downslanted palpebral fissures, Macrotia, Anotia, Microtia, Acetabu... |
OMIM:616462 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Thick corpus callosum, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial han... |
OMIM:615938 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... |
OMIM:186350 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
Frontonasal Dysplasia 3 |
|
Upper eyelid coloboma, Absent eyebrow, Microphthalmia, Low-set ears, Sparse eyelashes, Posteriorl... |
OMIM:613456 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Nephrotic syndrom... |
OMIM:609049 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short 2nd toe, Brachydactyly, Postaxial hand polydactyly, Short thumb, Glandular hypospadias |
OMIM:176305 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology, Sparse lateral eyebrow |
ORPHA:170 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... |
ORPHA:3163 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Ablepharon-Macrostomia Syndrome |
|
Cryptophthalmos, Microtia, third degree, Short metacarpal, Cutaneous finger syndactyly, Absent ey... |
OMIM:200110 |
Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Alopecia totalis, Cupped ear, Talipes equinovarus, Hypopla... |
OMIM:263650 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Coxa valga, Abnormally prominent line of Schwalbe, Hip dislocation, Absent extrao... |
OMIM:109120 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Joint contracture of the hand, 2-3 finger syndactyly, 2-4 fing... |
OMIM:225280 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Triphalangeal thumb, Absent thumb, 3-4 finger cutaneous syndactyly, Short thumb, Talipes equinovarus |
OMIM:613681 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia |
ORPHA:2440 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal cardiac septum morphology, Upper limb phocomelia, Syndactyly, Abnormal hear... |
ORPHA:294975 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Anophthalmia, Congenital hip dislocation, Eyelid coloboma, Microphthalmia, Orbital cyst |
OMIM:164180 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
15Q11Q13 Microduplication Syndrome |
|
Downslanted palpebral fissures, Clinodactyly of the 5th finger, Finger syndactyly, Epicanthus |
ORPHA:238446 |
Aniridia And Absent Patella |
|
Cataract, Aplasia/Hypoplasia of the patella, Aniridia |
OMIM:106220 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Hand clenching, Toe syndactyly, Bullet-s... |
ORPHA:1617 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Unilateral renal agenesis, Corneal opacity, Telecanthus, Aniridia |
ORPHA:1064 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Iris coloboma, Peters anomaly, Micr... |
OMIM:610023 |
Distal Monosomy 6P |
|
Downslanted palpebral fissures, Posterior embryotoxon, Short foot, Epicanthus, Hypoplasia of the ... |
ORPHA:96125 |
Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot polydacty... |
OMIM:614120 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Aniridia-Absent Patella Syndrome |
|
Ptosis, Cataract, Aplasia/Hypoplasia of the patella, Aniridia |
ORPHA:1069 |
Megalocornea-Intellectual Disability Syndrome |
|
Metatarsus valgus, Downslanted palpebral fissures, Genu varum, Megalocornea, Tapered finger, Epic... |
ORPHA:2479 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Ulnar deviation of the hand, Anencephaly, Campto... |
OMIM:614175 |
Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Alopecia, Triphalangeal thumb, Finger syndactyly, Short thumb, Fingernai... |
ORPHA:2251 |
Biemond Syndrome Type 2 |
|
Hypospadias, Hydrocephalus, Coloboma, Preaxial polydactyly |
ORPHA:141333 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... |
OMIM:221900 |
Cutis Laxa, Autosomal Dominant 3 |
|
Hip dislocation, Unilateral renal agenesis, Developmental cataract, Aortic regurgitation, Adducte... |
OMIM:616603 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, White eyebrow, Accumulation of melanosomes in mela... |
OMIM:214450 |
Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Ablepharon, Hearing impairment, Ectropion, Abn... |
ORPHA:1231 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos, Ptosis, Hearing impairment, Stenosis of the external auditory canal, T... |
OMIM:301018 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Aplasia/Hypoplasia of the earlobes, Blepharophimosis, Eyelid coloboma, Low-set, pos... |
ORPHA:1104 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Short metacarpal, Hypoplasia of the iris, Brachydactyly, Upslanted palpe... |
OMIM:600092 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Hidrotic Ectodermal Dysplasia |
|
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of fingers, Absent ... |
ORPHA:189 |
Frontofacionasal Dysplasia |
|
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Blepharophimosis, Limbal dermoid, Microcorne... |
ORPHA:1791 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Cryptophthalmos, Abnormality of skin pigmentation, Microtia, Absent eyel... |
ORPHA:920 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Downslanted palpebral fissures, Brushfield spots, Aplasia/Hypoplasia of ... |
ORPHA:1784 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Polydactyly, Renal insufficiency |
OMIM:615987 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity, M... |
ORPHA:290 |
D-Lactic Aciduria With Gout |
|
Downslanted palpebral fissures, Aniridia, Lacticaciduria |
OMIM:245450 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Wide nasal bridge, Toe syndactyly, Preaxial foot po... |
ORPHA:380 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Telangiectasia, Entropion, Keratoconjunctivitis sicca, Corneal neovascularization... |
OMIM:278730 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Oculoauricular Syndrome |
|
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... |
OMIM:612109 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Fraser Syndrome 3 |
|
Short toe, Cryptophthalmos, Simple ear, Low-set ears, Cutaneous syndactyly |
OMIM:617667 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Toenail dysplasia, Hypoplastic toenails, Short toe, ... |
OMIM:615297 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Hematuria, Ptosis, Cataract, Iris coloboma, Corneal opacity... |
ORPHA:1473 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
WAGR 11p13 deletion syndrome |
|
Renal neoplasm, Aniridia |
DECIPHER:35 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly |
OMIM:610140 |
Idiopathic Panuveitis |
|
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... |
ORPHA:280921 |
Orofaciodigital Syndrome Xviii |
|
Urinary incontinence, Genu valgum, Wide nasal bridge, Single transverse palmar crease, Preaxial p... |
OMIM:617927 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... |
ORPHA:209959 |
Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
Bartsocas-Papas Syndrome 2 |
|
Small hand, 2-5 finger cutaneous syndactyly, Ankyloblepharon, Axillary pterygium, Antecubital pte... |
OMIM:619339 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Eyelid coloboma, Microphthalmia, Nasolacrimal duct obstruction, Abnormal hair morph... |
OMIM:248450 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... |
OMIM:217800 |
Treacher Collins Syndrome 4 |
|
Downslanted palpebral fissures, Lower eyelid coloboma, Conductive hearing impairment, Preauricula... |
OMIM:618939 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Trisomy 13 |
|
Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology... |
ORPHA:3378 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
Donnai-Barrow Syndrome |
|
Short sternum, Downslanted palpebral fissures, Non-acidotic proximal tubulopathy, Hypoplasia of t... |
OMIM:222448 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Abnormal ey... |
OMIM:206920 |
Nager Syndrome |
|
Triphalangeal thumb, Downslanted palpebral fissures, Aplasia/Hypoplasia of the thumb, Aplasia/Hyp... |
ORPHA:245 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Ablepharon, Cataract, Rocker bottom foot |
OMIM:616038 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Megalocornea-Mental Retardation Syndrome |
|
Downslanted palpebral fissures, Genu valgum, Megalocornea, Epicanthus, Hypoplasia of the iris, Ar... |
OMIM:249310 |
Greig Cephalopolysyndactyly Syndrome |
|
Ventriculomegaly, Wide nasal bridge, Broad hallux, Postaxial hand polydactyly, Scaphocephaly, Pre... |
OMIM:175700 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Progressive microcephaly, M... |
OMIM:616486 |
Tietz Syndrome |
|
Hypopigmentation of the skin, Abnormality of skin pigmentation, White eyebrow, Hypopigmentation o... |
ORPHA:42665 |
Duane Retraction Syndrome |
|
Blepharospasm, Camptodactyly, Hypoplastic iris stroma, Iris coloboma, Talipes equinovarus, Short ... |
ORPHA:233 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Pelvic kidney, Microphthalmia, Sclerocor... |
OMIM:613001 |
Autosomal Recessive Primary Microcephaly |
|
Upslanted palpebral fissure, Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Lattice Type I |
|
Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Lacrimal duct aplasia, Split foo... |
DECIPHER:46 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hemimegalencephaly, Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly, Hypoplasia of th... |
OMIM:615937 |
Hypotrichosis 1 |
|
Sparse body hair, Sparse eyebrow, Sparse axillary hair, Sparse pubic hair, Sparse eyelashes, Spar... |
OMIM:605389 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis, 2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of th... |
OMIM:309630 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... |
OMIM:617642 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Cone/cone-rod dystrophy, Retinal atrophy, Narrow greater sciatic notch, ... |
ORPHA:85167 |
Zechi-Ceide Syndrome |
|
Short metatarsal, Conductive hearing impairment, Thick hair, Small nail, Microtia, Atrial septal ... |
ORPHA:217017 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia, Low-set ears, Occ... |
OMIM:613885 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Toe syndactyly, Ectopia lentis, Upper limb asymmetry, Iris coloboma, Mul... |
ORPHA:2092 |
Fibular Hemimelia |
|
Hip subluxation, Short tibia, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones |
OMIM:600384 |
Albinism-Deafness Syndrome |
|
Patchy hypo- and hyperpigmentation, Piebaldism, Albinism, Congenital sensorineural hearing impair... |
OMIM:300700 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Joubert Syndrome 18 |
|
Arrhinencephaly, Talipes equinovarus, Camptodactyly, Renal cyst, Horseshoe kidney, Occipital ence... |
OMIM:614815 |
Fraser Syndrome 1 |
|
Cryptophthalmos, Conductive hearing impairment, Malformed lacrimal duct, Extension of hair growth... |
OMIM:219000 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... |
ORPHA:54 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Brachycephaly, Crossed fused renal ectopia, Unilateral renal agenesis, Lissencephaly, Overlapping... |
OMIM:618142 |
Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Ptosis, Syndactyly, Upper eyelid coloboma, Thick eyebrow, Hearing... |
OMIM:619736 |
White Forelock With Malformations |
|
White forelock, Poliosis, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Redundant neck skin, Hydranencephaly, Hol... |
OMIM:617967 |
Axenfeld-Rieger Syndrome |
|
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Hypospadias, Abnormal anterior chamber mor... |
ORPHA:782 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Palmoplantar keratoderma, Limbal stem cell deficiency, Corneal neovascularization, Finger joint h... |
OMIM:615225 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin pat... |
ORPHA:998 |
Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... |
ORPHA:39044 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Sensorineural hearing impairment, Premature gray... |
OMIM:619947 |
Trisomy 12P |
|
Aplasia/Hypoplasia affecting the eye, Large hands, Epicanthus, Aplasia/Hypoplasia of the iris, Cl... |
ORPHA:1699 |
Congenital Microcoria |
|
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... |
ORPHA:566 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Distal Monosomy 17Q |
|
Aplasia/Hypoplasia of the thumb, Melanocytic nevus, Small hand, Abnormal cardiac septum morpholog... |
ORPHA:1597 |
Ventriculomegaly And Arthrogryposis |
|
Hand clenching, Ventriculomegaly, Cerebellar hypoplasia, Ulnar deviation of the wrist, Agenesis o... |
OMIM:619501 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, A... |
OMIM:615986 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Anence... |
ORPHA:1590 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Aniridia |
OMIM:206700 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Cerebellar hypoplasia, Craniosynostosis, Arrhinencephaly, Hydrocephalus, L... |
ORPHA:1528 |
Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Renal insufficiency, Corneal opacity |
ORPHA:281090 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... |
ORPHA:2722 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Brachycephaly, Ventriculomegaly, Wide nasal bridge, Optic nerve hypopla... |
OMIM:603671 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm |
ORPHA:261102 |
Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Rieger anomaly, Tapered finger, Abnormality of the kidney, Primary congenital glaucoma, Buphthalm... |
ORPHA:521445 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Sclerosteosis |
|
Sensorineural hearing impairment, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalang... |
ORPHA:3152 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand poly... |
ORPHA:2091 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Galloway-Mowat Syndrome 1 |
|
Hand clenching, Renal insufficiency, Optic atrophy, Epicanthus, Nephrotic syndrome, Hypoplasia of... |
OMIM:251300 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, Abnormality of the ear, White forelock, Het... |
OMIM:172800 |
Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Microhydranencephaly |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Talipes equinovarus, Hydran... |
OMIM:605013 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Weakness of the intrinsic hand muscles |
OMIM:160565 |
Hypomelanosis Of Ito |
|
Epicanthus, Clinodactyly, Hand polydactyly, Syndactyly, Iris coloboma, Radial deviation of finger... |
OMIM:300337 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Epicanthus, Hypoplasia of penis, Hand polydactyly, Brachydactyly, Iris colobom... |
ORPHA:2377 |
Idiopathic Anterior Uveitis |
|
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... |
ORPHA:280914 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Renal cyst, Bilateral triphalangeal thumbs |
OMIM:138790 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia, Leukocoria, Short lower limbs, Hypertension, Bowing of the legs, Retinal detachment |
OMIM:219250 |
Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Macrotia, Pili torti, Trichorrhexis nodosa, Abnormal finger mo... |
ORPHA:113 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap... |
ORPHA:1908 |
Immunodeficiency 10 |
|
Hypoplasia of the iris |
OMIM:612783 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane, Brachydactyly |
ORPHA:79414 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Congenital Heart Defects, Multiple Types, 7 |
|
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Right aortic arch, Aortopulmon... |
OMIM:618780 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Optic atrophy, Developmental cataract |
ORPHA:2572 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short palpebral fissure, Short toe, Hypoplastic toenails, Curved distal phalanx of the thumb, Tri... |
ORPHA:370010 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
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Short metacarpal, Epicanthus, Cataract, Chorioretinal coloboma, Short thumb |
ORPHA:2489 |
Brachydactyly, Type A1, C |
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Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... |
OMIM:615072 |
Vesicoureteral Reflux 2 |
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Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Chromosome 11P13 Deletion Syndrome, Distal |
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Aniridia |
OMIM:616902 |
Terminal Osseous Dysplasia |
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Camptodactyly of finger, Short toe, Abnormality of skin pigmentation, Epicanthus, Camptodactyly o... |
OMIM:300244 |
Fetal Encasement Syndrome |
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Congenital diaphragmatic hernia, Omphalocele, Tetralogy of Fallot |
OMIM:613630 |
Richieri-Costa/Guion-Almeida Syndrome |
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Downslanted palpebral fissures, Palmoplantar cutis laxa, Ptosis, Iris coloboma, Eyelid coloboma, ... |
OMIM:268850 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
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Retinopathy, Hand monodactyly, Split foot, Cataract, Split hand |
OMIM:183800 |
Insulin-Like Growth Factor I, Resistance To |
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Rieger anomaly, Short foot, Small hand, Synophrys, Short finger, Clinodactyly, Radial deviation o... |
OMIM:270450 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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Short tibia, Triphalangeal thumb, Absent forearm, Talipes equinovarus, Clinodactyly, Deep-set nai... |
OMIM:201170 |
Hec Syndrome |
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Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract, Arrhythm... |
ORPHA:2119 |
Nevus Comedonicus Syndrome |
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Finger syndactyly, Spina bifida, Abnormal foot morphology, Toe syndactyly, Spina bifida occulta, ... |
ORPHA:64754 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
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Abnormality of the upper limb, Clinodactyly of the 5th finger, Atrial septal defect, Oligodactyly... |
ORPHA:521308 |
Arthrogryposis, Distal, Type 2B2 |
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Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... |
OMIM:618435 |
Autoinflammation With Arthritis And Dyskeratosis |
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Keratoconjunctivitis sicca, Punctate keratitis, Palmoplantar hyperkeratosis, Corneal neovasculari... |
OMIM:617388 |
Galactosemia Ii |
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Cataract, Galactosuria |
OMIM:230200 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
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Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Cutaneous finger synda... |
OMIM:613573 |
Oculocerebrocutaneous Syndrome |
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Finger syndactyly, Hand polydactyly, Ptosis, Iris coloboma, Eyelid coloboma, Congenital hip dislo... |
ORPHA:1647 |
Cataract 9, Multiple Types |
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Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract |
OMIM:604219 |
Pontocerebellar Hypoplasia, Type 12 |
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Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasia, Primary microce... |
OMIM:618266 |
Choroidal Atrophy-Alopecia Syndrome |
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Finger syndactyly, Supernumerary nipple, Fine hair, Abnormality of retinal pigmentation, Abnormal... |
ORPHA:1433 |
Tietz Albinism-Deafness Syndrome |
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White eyelashes, White eyebrow, Hypopigmentation of the fundus, Heterochromia iridis, Blue irides |
OMIM:103500 |
Iris Pigment Layer, Cleavage Of |
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Cataract, Peripheral retinal detachment |
OMIM:147610 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
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Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Waardenburg Syndrome, Type 2E |
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Ocular albinism, White eyelashes, Iris hypopigmentation, White eyebrow, Hypoplasia of the iris, H... |
OMIM:611584 |
Brachydactyly Type A4 |
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Symphalangism affecting the phalanges of the hand, Short middle phalanx of the 5th finger, Short ... |
ORPHA:93394 |
Lacrimoauriculodentodigital Syndrome |
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Absent thumb, Toe syndactyly, Keratoconjunctivitis sicca, Abnormal lacrimal gland morphology, Rec... |
ORPHA:2363 |
Dermoids Of Cornea |
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Corneal opacity |
OMIM:304730 |
Hypotrichosis Simplex |
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Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair |
ORPHA:55654 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
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Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Hypoplastic toenails,... |
ORPHA:1113 |
Pelvis-Shoulder Dysplasia |
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Camptodactyly of finger, Hydronephrosis, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone... |
ORPHA:2839 |
Microphthalmia, Isolated, With Coloboma 3 |
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Microphthalmia |
OMIM:610092 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Optic atrophy, Unilateral narrow palpebral fissure, Clinodactyly, Brachydactyly, Broad hallux, As... |
OMIM:618727 |
Postaxial Tetramelic Oligodactyly |
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Ectrodactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly |
ORPHA:2730 |
Glaucoma 3, Primary Congenital, D |
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Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Catel-Manzke Syndrome |
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Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Clinodactyly of the 5th fi... |
ORPHA:1388 |
Bardet-Biedl Syndrome 7 |
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2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
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Knee flexion contracture, Unilateral wrist flexion contracture, Perisylvian polymicrogyria, Ventr... |
OMIM:616531 |
Endocrine-Cerebroosteodysplasia |
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Ventriculomegaly, Wide nasal bridge, Midface retrusion, Holoprosencephaly, Fibular bowing, Depres... |
OMIM:612651 |
Peeling Skin Syndrome 2 |
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Scaling skin, Erythema |
OMIM:609796 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
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Hematuria, Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:120433 |
Ophthalmoplegia, Familial Static |
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Anisocoria, Ptosis |
OMIM:165000 |
Short Syndrome |
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Megalocornea, Rieger anomaly, Enlarged epiphyses, Slender long bone, Clinodactyly, Astigmatism, C... |
OMIM:269880 |
Birdshot Chorioretinopathy |
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Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Microphthalmia, Isolated 8 |
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Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Neuronal Intestinal Pseudoobstruction |
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Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:99811 |
Winchester Syndrome |
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Carpal osteolysis, Broad metacarpals, Corneal opacity, Osteolysis involving tarsal bones |
OMIM:277950 |
Exudative Vitreoretinopathy 6 |
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Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
3Q29 Microduplication Syndrome |
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Downslanted palpebral fissures, Toe syndactyly, Camptodactyly of toe, Aniridia, Iris coloboma, Ca... |
ORPHA:251038 |
Retinitis Pigmentosa 40 |
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Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
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Overhanging nasal tip, Convex nasal ridge, Small hand, Cone-shaped epiphyses of the phalanges of ... |
ORPHA:85172 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Genu valgum, Hip contracture, Posterior embryotoxon, Epicanthus, Bilateral renal agenesis, Hypopl... |
OMIM:619194 |
17Q21.31 Microduplication Syndrome |
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Toe syndactyly, Clinodactyly of the 5th finger, Short nose, Sandal gap, Microcephaly, Anteverted ... |
ORPHA:217340 |
Witkop Syndrome |
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Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair |
OMIM:189500 |
Wilson-Turner Syndrome |
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Tapered finger, Short foot, Small hand, Microtia, Uplifted earlobe, Thick eyebrow |
ORPHA:3459 |
Coats Disease |
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Leukocoria, Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Craniofacial Conodysplasia |
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Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Camptodactyly of finger, Short toe, Melanocytic nevus, Hallux valgus, Microtia, Spina bifida, Syn... |
ORPHA:1327 |
Coxoauricular Syndrome |
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Hip dislocation, Hearing impairment, Microtia |
OMIM:122780 |
Pili Torti-Onychodysplasia Syndrome |
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Sparse body hair, Alopecia, Brittle hair, Absent eyelashes, Alopecia universalis, Trichodysplasia... |
ORPHA:2890 |
Stickler Syndrome Type 2 |
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Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Acropectorovertebral Dysplasia |
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Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Brachycephaly, Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly, Overl... |
OMIM:619148 |
Postaxial Acrofacial Dysostosis |
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Downslanted palpebral fissures, Conductive hearing impairment, Hypoplasia of the radius, Radiouln... |
OMIM:263750 |
Treacher Collins Syndrome 3 |
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Downslanted palpebral fissures, Lower eyelid coloboma, Conductive hearing impairment, Microtia |
OMIM:248390 |
Mandibulofacial Dysostosis With Alopecia |
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Alopecia, Conductive hearing impairment, Microtia, Stenosis of the external auditory canal, Spars... |
OMIM:616367 |
Ring Chromosome 8 Syndrome |
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Short nose, Frontal bossing, Abnormality of the ureter, Anteverted nares, Deviation of finger, Hy... |
ORPHA:1450 |
Heyn-Sproul-Jackson Syndrome |
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Short phalanx of finger, Short metacarpal, Epicanthus, Broad phalanx, Broad metacarpals, Sparse hair |
OMIM:618724 |
Waardenburg Syndrome, Type 1 |
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Blepharophimosis, Synophrys, White eyelashes, White eyebrow, Hypoplastic iris stroma, Hypopigment... |
OMIM:193500 |
Dubowitz Syndrome |
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Short palpebral fissure, Megalocornea, Sparse lateral eyebrow, Rod-cone dystrophy, Epicanthus, Bl... |
OMIM:223370 |
Meckel Syndrome, Type 4 |
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Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Renal cyst, Postaxial hand polydactyly, M... |
OMIM:611134 |
Abruzzo-Erickson Syndrome |
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Short toe, Epicanthus, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Microcor... |
ORPHA:921 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Renal cyst, Brachydactyly |
OMIM:615982 |
Hypotrichosis 11 |
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Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... |
OMIM:615059 |
Sweeney-Cox Syndrome |
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Small nail, Low-set ears, Bilateral talipes equinovarus, Microtia, Crumpled ear, 2-5 toe syndacty... |
OMIM:617746 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
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Cerebellar hypoplasia, Hydrocephalus, Dolichocephaly, Frontal bossing, Dandy-Walker malformation,... |
ORPHA:1538 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Retinal dege... |
OMIM:613550 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
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Genu valgum, Coxa valga, Hip dysplasia, Acetabular dysplasia, Talipes equinovarus |
OMIM:613618 |
Proboscis Lateralis |
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Abnormal nasolacrimal system morphology, Epicanthus, Abnormality of the ocular adnexa, Optic nerv... |
ORPHA:141099 |
Persistent Hyperplastic Primary Vitreous |
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Hemorrhage of the eye, Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasi... |
ORPHA:91495 |
Triopia |
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Abnormal pupil morphology, Abnormal eyebrow morphology, Blepharophimosis, Microcornea, Iris coloboma |
ORPHA:3374 |
Isolated Ectopia Lentis |
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Cataract, Ectopia lentis, Hypertension, Ectopia pupillae |
ORPHA:1885 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Even-Plus Syndrome |
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Patent foramen ovale, Microtia, Synophrys, Atrial septal defect, Epiphyseal dysplasia, Dysplasia ... |
OMIM:616854 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Underdeveloped nasal alae, Unilateral renal agenesis, Hydranencephaly, Microcephaly, Short distal... |
OMIM:601355 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Adams-Oliver Syndrome 3 |
|
Short palpebral fissure, 2-3 toe syndactyly, Short 5th toe, Short distal phalanx of finger, Absen... |
OMIM:614814 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Aplasia of the nasal bone, Colpocephaly, Short nose, Acrania, Syndactyl... |
OMIM:618820 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Hydrocephalus, Alopecia universalis, Abno... |
ORPHA:1008 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Ureteral atresia, Unilateral renal agenesis, Bilateral renal agenesis |
OMIM:618845 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Arrhinencephaly, Radioulnar synostosis, Abnormal pelvic g... |
ORPHA:1788 |
Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Absent toenail, Absent fingernail, Synostos... |
ORPHA:3258 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Aqueductal stenosis, Humeroradial synostosis, Pulmonary hypoplasia, Ol... |
OMIM:251230 |
Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Oxycephaly, Finger syndactyly, Turricephaly, Toe synd... |
ORPHA:65759 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... |
ORPHA:3216 |
Neurofaciodigitorenal Syndrome |
|
Triphalangeal thumb, Downslanted palpebral fissures, Abnormality of the elbow, Epicanthus, Abnorm... |
ORPHA:2673 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Short palpebral fissure, Downslanted palpebral fissures, Small hand, Persistent pupillary membran... |
OMIM:257850 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Hartsfield Syndrome |
|
Downslanted palpebral fissures, Ptosis, Aplasia/Hypoplasia of the radius, Microphthalmia, Split h... |
ORPHA:2117 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Microtia, Synophrys, Clinodactyly, Hypoplasia of the ulna, Hirsutism, Low-set ears |
ORPHA:357175 |
Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Adducted thumb, Pes cavus, Microcep... |
OMIM:303350 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch |
OMIM:231060 |
Foveal Hypoplasia 2 |
|
Posterior embryotoxon, Foveal hyperpigmentation, Optic nerve misrouting, Axenfeld anomaly, Astigm... |
OMIM:609218 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conductive hearing impairment, Abnormal eyelid morphology, Finger syndactyly, Euryblepharon, Abno... |
ORPHA:1997 |
Scalp-Ear-Nipple Syndrome |
|
2-3 toe syndactyly, Epicanthus, Iris coloboma, Telecanthus, Blepharophimosis, Pyelonephritis, Dev... |
OMIM:181270 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... |
ORPHA:1106 |
Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Urinary incontinence, Hand polydactyly, Syndac... |
OMIM:114150 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia |
ORPHA:1065 |
Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
Blue Cone Monochromatism |
|
Corneal dystrophy, Abnormality of retinal pigmentation |
ORPHA:16 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Ventricular septal defect, Microtia, Bicuspid aortic valve, Left ventri... |
OMIM:618619 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Humeroradial synostosis, Oligodactyly |
OMIM:614416 |
Johnson Neuroectodermal Syndrome |
|
Alopecia, Conductive hearing impairment, Preaxial hand polydactyly, Microtia, Absent eyelashes, H... |
ORPHA:2316 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Ventriculomegaly, Radial bowing, Polycystic kidney dysplasia, Hydrocephalus, ... |
OMIM:617866 |
Fraser Syndrome |
|
Cryptophthalmos, Conductive hearing impairment, Anophthalmia, Wide pubic symphysis, Finger syndac... |
ORPHA:2052 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Iris coloboma, Hydrocephalus |
OMIM:210350 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Downslanted palpebral fissures, Phakodonesis, Anterior synechiae of the anterior chamber, Short f... |
OMIM:601552 |
1Q21.1 Microduplication Syndrome |
|
Hip dysplasia, Hydrocephalus, Hip dislocation, Frontal bossing, Hypospadias, Talipes equinovarus |
ORPHA:250994 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Cerebral cortical atrophy, Aplasia... |
ORPHA:2570 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Craniosynostosis, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, ... |
OMIM:218670 |
Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Sensorineural hearing impairment, Premature graying of hair, Joint contr... |
OMIM:148820 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Upslanted palpebral fissure, Microphthalmia, Hypogonadism, Epicanthus |
ORPHA:2528 |
Radial-Renal Syndrome |
|
Ectopic kidney, Unilateral renal agenesis |
OMIM:179280 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Talipes equinovarus, Microphthalmia, Rocker bottom foot |
OMIM:616570 |
Waardenburg Syndrome Type 2 |
|
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, Ptosis, ... |
ORPHA:895 |
20P12.3 Microdeletion Syndrome |
|
Microtia, Wolff-Parkinson-White syndrome, Atrial septal defect, Broad thumb, Broad hallux phalanx... |
ORPHA:261295 |
Blepharocheilodontic Syndrome 2 |
|
Lagophthalmos, Euryblepharon, Nail dysplasia, Distichiasis, Ectropion of lower eyelids, Cutaneous... |
OMIM:617681 |
Cat-Eye Syndrome |
|
Downslanted palpebral fissures, Renal hypoplasia/aplasia, Hip dysplasia, Iris coloboma, Abnormal ... |
ORPHA:195 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Small hand, Clinodactyly, Short nose, Cubitus valgus, Short foot |
OMIM:300577 |
Braddock-Carey Syndrome 2 |
|
Downslanted palpebral fissures, Clinodactyly, Microphthalmia, Hearing impairment, Atresia of the ... |
OMIM:619981 |
Burn-Mckeown Syndrome |
|
Short palpebral fissure, 2-3 toe syndactyly, Conductive hearing impairment, Blepharophimosis, Low... |
OMIM:608572 |
Pallister-Hall Syndrome |
|
Mesoaxial foot polydactyly, Neonatal death, Short 4th metacarpal, Ventricular septal defect, Micr... |
OMIM:146510 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Absent fifth fingernail, Triphalangeal thumb, Small nail, Sensorineural hearing impairment, Absen... |
OMIM:124480 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Ventriculomegaly, Wide nasal bridge, Ulnar deviation of the wrist, ... |
OMIM:618577 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Epica... |
OMIM:157900 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Retinal dystrophy, Microcornea, Postaxial foot polydactyly, Iris... |
ORPHA:139471 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, 2-3 toe syndactyly, Long palpebral fissure, 3-4 finger syndactyly, Dry skin |
OMIM:600906 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Microtia, Synophrys, Clinodactyly, Hypoplasia of the ulna, Hirsutism, Low-set ears |
OMIM:615162 |
Vitamin K Antagonist Embryofetopathy |
|
Aplasia/Hypoplasia affecting the eye, Myelomeningocele, Microtia, Hydrocephalus, Epiphyseal stipp... |
ORPHA:1914 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Temtamy Syndrome |
|
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly, Low-set ear... |
ORPHA:1777 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Epicanthus, Clinodactyly, Camptodactyly, Osteolysis involving bones o... |
ORPHA:88630 |
Cerebrooculonasal Syndrome |
|
Sparse eyebrow, Macrotia, Anophthalmia, Abnormal tragus morphology, Postaxial hand polydactyly, L... |
ORPHA:66625 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Macrotia, Syndactyly, Cardiomegaly, Palmoplantar keratoderma, Sparse hair |
OMIM:613576 |
Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
Pierpont Syndrome |
|
High anterior hairline, Short toe, Macrotia, Short finger, Narrow palpebral fissure, Hearing impa... |
ORPHA:487825 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Triphalangeal thumb, Atrioventricular canal defect, Aplasia/Hypoplasia affecting the eye, Conduct... |
ORPHA:2549 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Atrioventricular canal defect, Preaxial hand polydactyly, Tricuspid regurgit... |
ORPHA:1120 |
Potocki-Shaffer Syndrome |
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Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Turricephaly, Wide nasal bridge, 2-5... |
OMIM:601224 |
Rubinstein-Taybi Syndrome 2 |
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Short 5th toe, Downslanted palpebral fissures, Short first metatarsal, Epicanthus, Long eyelashes... |
OMIM:613684 |
Mucoepithelial Dysplasia, Hereditary |
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Keratoconjunctivitis, Hematuria, Corneal neovascularization, Cataract, Opacification of the corne... |
OMIM:158310 |
Ectrodactyly-Polydactyly |
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Postaxial hand polydactyly, Split foot, Split hand |
OMIM:225290 |
Chromosome 16Q12 Duplication Syndrome |
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Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Retinitis Pigmentosa 9 |
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Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Warburg-Cinotti Syndrome |
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Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Epicanthus, Blepharop... |
OMIM:618175 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
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Ectopia pupillae |
OMIM:618031 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Abnormal antihelix morphology, Conductive hearing impairment, Preaxial hand polydactyly, Microtia... |
ORPHA:79113 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
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Glue ear, Recurrent respiratory infections, Secundum atrial septal defect, Clinodactyly of the 5t... |
OMIM:619758 |
Meckel Syndrome, Type 2 |
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Meningocele, Polydactyly, Encephalocele, Anencephaly, Renal cyst, Postaxial hand polydactyly, Bow... |
OMIM:603194 |
Deafness, Congenital, With Total Albinism |
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Albinism, Hearing impairment |
OMIM:220900 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
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Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Alopecia of scalp, ... |
OMIM:617294 |
Neural Tube Defects, Susceptibility To |
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Urinary incontinence, Myelomeningocele, Anencephaly, Hydrocephalus, Spina bifida occulta |
OMIM:182940 |
Nephroblastoma |
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Nephroblastoma, Hematuria, Hypertension, Aniridia |
ORPHA:654 |
Frontofacionasal Dysplasia |
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S-shaped palpebral fissures, Blepharophimosis, Ankyloblepharon, Microcornea, Ptosis, Iris colobom... |
OMIM:229400 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
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Alopecia, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, Hip dislocation, L... |
OMIM:203550 |
Laurin-Sandrow Syndrome |
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Toe syndactyly, Abnormality of the wrist, Fibular duplication, Prominent nose, Preaxial foot poly... |
ORPHA:2378 |
Microphthalmia, Syndromic 13 |
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Microcornea, Ptosis, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:300915 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
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Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Hypotrichosis 4 |
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Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
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Sensorineural hearing impairment, Finger syndactyly, Epicanthus, Abnormality of the wrist, Hypopi... |
ORPHA:1825 |
Thiemann Disease |
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Short phalanx of finger, Broad phalanx |
OMIM:165700 |
Frontonasal Dysplasia 1 |
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Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Joint cont... |
OMIM:136760 |
Mullegama-Klein-Martinez Syndrome |
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High anterior hairline, Polydactyly, Sensorineural hearing impairment, Abnormal cardiac septum mo... |
OMIM:301022 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
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Preaxial hand polydactyly, Widow's peak, Interphalangeal joint contracture of finger, Thick eyebr... |
OMIM:606242 |
Congenital Varicella Syndrome |
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Atypical scarring of skin, Microphthalmia |
ORPHA:291 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Otoonychoperoneal Syndrome |
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Abnormal antihelix morphology, Macrotia, Aplasia/Hypoplasia of the earlobes, Underfolded helix, A... |
ORPHA:2793 |
Kid Syndrome |
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Conjunctivitis, Sparse eyebrow, Coxa valga, Corneal erosion, Patellar hypoplasia, Keratitis, Limb... |
ORPHA:477 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
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Abnormal pupil morphology, Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Ventricular septal defect, Microtia, Brachydactyly, Broad thumb, Abnormal hair pattern, Bilateral... |
ORPHA:1770 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Gorlin-Chaudhry-Moss Syndrome |
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Conductive hearing impairment, Abnormal eyelid morphology, Abnormal metacarpal morphology, Upper ... |
ORPHA:2095 |
Spastic Paraplegia 47, Autosomal Recessive |
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Abnormal periventricular white matter morphology, Ventriculomegaly, Wide nasal bridge, Acetabular... |
OMIM:614066 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
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Nephroblastoma, Nephropathy, Hypospadias, Renal insufficiency, Aniridia |
OMIM:194072 |
Pierpont Syndrome |
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High anterior hairline, Short toe, Short foot, Unilateral narrow palpebral fissure, Blepharophimo... |
OMIM:602342 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Brachycephaly, Turricephaly, Toe syndactyly, Hydrocephalus, Radioulnar synostosis, Abnormal septu... |
ORPHA:171839 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Genu valgum, Wide nasal bridge, Clinodactyly, Spindle-shaped finger, Frontal bossing, Cerebral at... |
ORPHA:166024 |
Arthrogryposis, Distal, Type 7 |
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Cutaneous syndactyly of toes, Hip dislocation, Metatarsus adductus, Hammertoe, Talipes equinovarus |
OMIM:158300 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia, Synophrys, Long eyelashes, Large earlobe, Prominent ear helix, Thick eyebrow, Low a... |
ORPHA:411986 |
Amoebic Keratitis |
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Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Trisomy 9P |
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