Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Central Retinal Vein Occlusion |
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Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Birdshot Chorioretinopathy |
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Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Curry-Jones Syndrome |
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Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ... |
ORPHA:1553 |
Morning Glory Disc Anomaly |
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Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... |
ORPHA:1473 |
Eales Disease |
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Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Pelvis-Shoulder Dysplasia |
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Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Hypoplasia of the ulna, Retinal detachment, Cataract, Broad hallux, Ovoid vertebral bodies, Abnor... |
ORPHA:1856 |
Vitreoretinochoroidopathy |
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Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Retinal Dystrophy And Obesity |
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Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
Retinopathy Of Prematurity |
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Tractional retinal detachment, Small for gestational age, Retinal arteriolar tortuosity, Abnormal... |
ORPHA:90050 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Retinal detachment, Occipital encephalocele, Lumbar hyperlordosis, Cataract, Optic nerve hypoplas... |
ORPHA:370959 |
Wagner Vitreoretinopathy |
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Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Macrophthalmia, Colobomatous, With Microcornea |
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Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... |
OMIM:602499 |
Neovascular Glaucoma |
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Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... |
OMIM:133780 |
X-Linked Intellectual Disability, Najm Type |
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Cataract, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Cerebellar hypoplasia, Scoliosis, ... |
ORPHA:163937 |
Bresek Syndrome |
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Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly... |
ORPHA:85284 |
Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Joint Laxity, Short Stature, And Myopia |
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Retinal detachment, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Talipes equino... |
OMIM:617662 |
2Q31.1 Microdeletion Syndrome |
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Short neck, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Co... |
ORPHA:251014 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Retinal detachment, Cataract, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypo... |
OMIM:615181 |
Autosomal Recessive Stickler Syndrome |
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Retinal detachment, Epiphyseal dysplasia, Cataract, Genu valgum, Irregular vertebral endplates, P... |
ORPHA:250984 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Retinal detachment, Agenesis of cerebellar vermis, Corneal opacity, Cataract, Hypoplasia of the p... |
OMIM:613153 |
Bardet-Biedl Syndrome 13 |
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Bone spicule pigmentation of the retina, Obesity, Polydactyly, Rod-cone dystrophy, Attenuation of... |
OMIM:615990 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Broad toe, Retinal detachment, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epip... |
OMIM:609616 |
Acro-Renal-Ocular Syndrome |
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Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Triphalangeal thumb,... |
ORPHA:959 |
Verheij Syndrome |
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Joint laxity, Vertebral fusion, Branchial cyst, Small for gestational age, Optic nerve hypoplasia... |
OMIM:615583 |
Retinitis Pigmentosa 50 |
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Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Irvan Syndrome |
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Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Achondrogenesis Type 2 |
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Delayed vertebral ossification, Retinal detachment, Absent vertebral body mineralization, Catarac... |
ORPHA:93296 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Coloboma, Ocular, Autosomal Recessive |
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Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Cataract 21, Multiple Types |
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Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Coats Disease |
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Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Microphthalmia, Lenz Type |
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Finger syndactyly, Cataract, Camptodactyly of finger, Hyperlordosis, Microcephaly, Kyphosis, Opti... |
ORPHA:568 |
Cone-Rod Dystrophy, X-Linked, 3 |
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Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Chorioretinal Atrophy, Progressive Bifocal |
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Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
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Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectas... |
OMIM:620157 |
Exudative Vitreoretinopathy 5 |
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Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... |
OMIM:613310 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
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Short thumb, Cataract, Chorioretinal coloboma |
OMIM:274205 |
Renal Coloboma Syndrome |
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Joint hyperflexibility, Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia |
ORPHA:1475 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Short neck, Thoracic kyphosis, Abnormal bone ossification, Abnormal femoral neck/head morphology,... |
ORPHA:163649 |
Osteoporosis-Pseudoglioma Syndrome |
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Osteopenia, Retinal detachment, Crumpled long bones, Joint laxity, Wormian bones, Corneal opacity... |
ORPHA:2788 |
Nivelon-Nivelon-Mabille Syndrome |
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Short metacarpal, Cerebellar vermis hypoplasia, Micromelia, Microcephaly, Optic disc coloboma, Hy... |
OMIM:600092 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Retinal atrophy, Cataract, Microcephaly, Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia of the ... |
OMIM:253280 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Vertebral fusion, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocorn... |
OMIM:206900 |
Stickler Syndrome Type 1 |
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Retinal detachment, Cataract, Osteoarthritis, Abnormal vitreous humor morphology, Joint hyperflex... |
ORPHA:90653 |
Neuroectodermal Melanolysosomal Disease |
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Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Optic atrophy, Premature graying... |
ORPHA:33445 |
Bornholm Eye Disease |
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Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia |
OMIM:300843 |
Congenital Glaucoma |
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Retinal detachment |
ORPHA:98976 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Stickler Syndrome Type 2 |
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Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Stickler Syndrome, Type Ii |
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Arthropathy, Retinal detachment, Cataract, Arachnodactyly, Long fingers, Abnormal vitreous humor ... |
OMIM:604841 |
Papillorenal Syndrome |
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Joint laxity, Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpi... |
OMIM:120330 |
Spondyloepiphyseal Dysplasia Tarda |
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Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Acute Zonal Occult Outer Retinopathy |
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Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
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Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
Cataract 50 With Or Without Glaucoma |
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Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Oculofaciocardiodental Syndrome |
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Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Short thumb, Broad palm, 2-3... |
ORPHA:2712 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
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Rhegmatogenous retinal detachment, Lattice retinal degeneration, Hip osteoarthritis, Abnormal epi... |
OMIM:619248 |
Spondylo-Ocular Syndrome |
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Retinal detachment, Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Aplasia... |
ORPHA:85194 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
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Prominent metopic ridge, Transient ischemic attack, Duplication of thumb phalanx, Highly arched e... |
ORPHA:2995 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
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Generalized hyperpigmentation, Optic atrophy, Cataract |
ORPHA:2253 |
Vitreoretinopathy, Neovascular Inflammatory |
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Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Hallermann-Streiff Syndrome |
|
Metaphyseal widening, Choreoathetosis, Chorioretinal coloboma, Sparse hair, Iris coloboma, Spina ... |
OMIM:234100 |
Joubert Syndrome 1 |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Retinal dystrophy, Agenesis of cerebellar vermis... |
OMIM:213300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Retinal dysplasia |
OMIM:615041 |
Bardet-Biedl Syndrome 11 |
|
Retinopathy, Polydactyly, Obesity |
OMIM:615988 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Microcephaly, Partial a... |
ORPHA:50 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Kniest Dysplasia |
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Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ... |
ORPHA:485 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Cerebellar hypoplasia, Microphth... |
OMIM:218670 |
Aicardi Syndrome |
|
Retinal detachment, Cerebellar vermis hypoplasia, Block vertebrae, Cataract, Proximal placement o... |
OMIM:304050 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Meta... |
ORPHA:536471 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve... |
OMIM:614643 |
Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Retinal dystrophy, Postaxial hand polydactyly, Opti... |
OMIM:608091 |
Warsaw Breakage Syndrome |
|
Hypermelanotic macule, Single transverse palmar crease, Microcephaly, Optic disc coloboma, 2-3 to... |
OMIM:613398 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Medial flaring of the eyebrow, Retinal detachment, Cataract, Coxa valga, Microcephaly, Hydrocepha... |
OMIM:619833 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... |
ORPHA:171844 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract |
OMIM:300719 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Mi... |
OMIM:618736 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... |
OMIM:156550 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Highly arched eyebrow, Portal hypertension... |
ORPHA:1454 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy, Microcephaly |
OMIM:620086 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Cardiofaciocutaneous Syndrome 4 |
|
Joint laxity, Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Optic nerve hypoplasia, Pal... |
OMIM:615280 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Sparse scalp hair, Abnormal eyebrow morphology, Cataract, Poliosis, Abnormal ... |
ORPHA:3437 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Microcephaly, Chorioretin... |
OMIM:152950 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Obesity, Polydactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly |
OMIM:615983 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy, Cataract |
OMIM:614284 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Microcephaly, Retinal pigment epithel... |
OMIM:618889 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, H... |
ORPHA:496790 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapular winging, Facial palsy, Retinal telangiectasia, Shoulder girdle muscle weakness, Exudativ... |
OMIM:158900 |
Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Polydactyly, Obesity |
OMIM:615991 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Retinal dystrophy, Optic nerve hypoplasia, Slow-growing hair, Microcephaly, Sparse ... |
OMIM:300953 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Toe syndactyly, Optic nerve hypoplasia, Hypoplasia of the corpus c... |
ORPHA:228384 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Retinopathy |
OMIM:614464 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Thoracic scoliosis, Cataract, Macular atrophy, Microcephaly, Hypoplasia of the... |
OMIM:616171 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Coloboma, Abnormal optic disc morpholog... |
ORPHA:508498 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Optic nerve hypoplasia, Thick hair, Synophrys, Hypertrichosis, Hip dysplasia, Intention tremor, L... |
OMIM:618381 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Abnormal hair morphology, Bilateral... |
OMIM:607597 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Cataract, Rhizomelia, Optic nerve hypoplasia, Microcephaly, Flexion co... |
OMIM:222765 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia, Highly arched... |
OMIM:620155 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Abnormal left ventricular function, Agenesis of corpus callosum, Postaxial foot polydactyly, Deep... |
OMIM:301056 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment |
ORPHA:436182 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Bardet-Biedl Syndrome 10 |
|
Rod-cone dystrophy, Retinal dystrophy, Polydactyly, Obesity |
OMIM:615987 |
Stickler Syndrome, Type I |
|
Arthropathy, Retinal detachment, Cataract, Arachnodactyly, Joint stiffness, Kyphosis, Irregular f... |
OMIM:108300 |
Walker-Warburg Syndrome |
|
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Mi... |
ORPHA:899 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Coloboma, Congenital contracture, Hypoplasia of the brainstem, Retinal d... |
OMIM:236670 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Microcornea, Col... |
OMIM:610125 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Hyperconvex nail, Kyphoscoliosis, Short neck, Hamstring contractures, Retinal dysplasia, Patellar... |
ORPHA:96183 |
Nance-Horan Syndrome |
|
Retinal detachment, Short metacarpal, Cataract, Microcornea, Microphthalmia |
ORPHA:627 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Microcephaly, Small hand, ... |
ORPHA:2714 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele, Opti... |
ORPHA:1528 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Widow's peak, Aplasia/Hypoplasia of the corpus callosum, U... |
ORPHA:2143 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Short neck, Optic disc coloboma, Scoliosis, Agenesis of corpus callosum, Iris coloboma |
ORPHA:52055 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Low anterior hairline, L... |
OMIM:618828 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Camptodactyly of finger, ... |
ORPHA:1466 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short neck, Short thumb, Microcephaly, Hypoplasia of the ra... |
OMIM:609053 |
Incontinentia Pigmenti |
|
Abnormal hand morphology, Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bi... |
ORPHA:464 |
Smith-Magenis Syndrome |
|
Retinal detachment, Synophrys, Broad palm, Increased body weight, Scoliosis, Short palm, Abnormal... |
OMIM:182290 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short n... |
OMIM:183900 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Optic disc coloboma, Weight loss, Arthritis, Punctate keratitis, Failu... |
ORPHA:92050 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Retinal detachment, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical h... |
ORPHA:3218 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Optic nerve hypoplasia, Elbow flexion contracture, 2-3 toe syndacty... |
OMIM:618156 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Accelerated skeletal maturation, Large for gestational age, Pulmonic sten... |
ORPHA:137634 |
Exudative Vitreoretinopathy 4 |
|
Osteopenia, Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreor... |
OMIM:601813 |
Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Polydactyly, Short finger, Agenesis of corpus call... |
OMIM:182230 |
Incontinentia Pigmenti |
|
Ridged nail, Hemivertebrae, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic,... |
OMIM:308300 |
Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Polydactyly, Obesity, Retinal degeneration |
OMIM:615993 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Optic disc coloboma |
OMIM:241310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Exaggerated startle response, Cataract, Hypoplasia of the pyra... |
OMIM:253800 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Long toe, Joint laxity, Optic nerve hypoplasia, Hyperopic astigmatism, Long fingers, Fine hair, A... |
ORPHA:363686 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Hydro... |
OMIM:243605 |
Orofaciodigital Syndrome V |
|
Sandal gap, Aganglionic megacolon, Postaxial polydactyly, Microcephaly, Postaxial hand polydactyl... |
OMIM:174300 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Synophrys, ... |
OMIM:122470 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr... |
ORPHA:324416 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Obesity, Polydactyly, Rod-cone dystrophy, Retinal degeneration, Brachydactyly |
OMIM:615982 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Cataract, Reduced bone mine... |
ORPHA:2611 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Microcephaly |
OMIM:613638 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... |
ORPHA:94068 |
Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment, Vasculitis, Arthritis |
ORPHA:375 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Optic nerve hypoplasia, Abnormally large globe, Hypoplasia of the pons, Microc... |
OMIM:300749 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Tapered finger, Delayed skeletal matu... |
ORPHA:401777 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... |
OMIM:615145 |
Brittle Cornea Syndrome |
|
Hallux valgus, Retinal detachment, Arachnodactyly, Corneal dystrophy, Corneal erosion, Osteoporos... |
ORPHA:90354 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Thoracolumbar scoliosis, Short neck, Optic disc coloboma, Agenesis of corpus callosum, Iris coloboma |
OMIM:300472 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Intrauterine growth retardation, Partial agenesis of the corpus callosum, Cerebellar vermis hypop... |
OMIM:619074 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Retinal dystrophy, Obesity, Rod-cone dystrophy, Brachydactyly |
OMIM:615995 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, C... |
ORPHA:79345 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Delayed skeletal maturation... |
ORPHA:264200 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Optic nerve hypoplasia, Sagittal craniosynostosis, Patellar subluxation,... |
OMIM:615879 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:250972 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Superfi... |
ORPHA:209956 |
2P15P16.1 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Prominent metopic ridge, Facial palsy, Tapered finger... |
ORPHA:261349 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Flexion contracture, Decreased body weight, Microphthalmia,... |
OMIM:614833 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Optic atrophy, Cerebral atrophy, Coloboma, Microphthalmia, Failure to thrive, Agene... |
OMIM:274270 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
White-Sutton Syndrome |
|
Joint laxity, Failure to thrive, Wormian bones, Optic nerve hypoplasia, Short neck, Microcephaly,... |
OMIM:616364 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ... |
OMIM:615665 |
Smith-Magenis Syndrome |
|
Retinal detachment, Toe syndactyly, Failure to thrive in infancy, Joint stiffness, Microcephaly, ... |
ORPHA:819 |
Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara... |
OMIM:615986 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Progressive cataract, Optic nerve dysplasia, Development... |
OMIM:246000 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly, Obesity, Retinal degeneration |
OMIM:614845 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Avascular necrosis of the capital femoral ... |
ORPHA:247691 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ... |
ORPHA:3205 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Sparse scal... |
ORPHA:394 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Buphthalmos, Hypoplasia... |
OMIM:310600 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Attenuation of retinal blood vessels, Optic disc pallor, Microcephaly, Scoliosis, Intrauterine gr... |
OMIM:617082 |
Optic Atrophy 11 |
|
Optic nerve hypoplasia, Microcephaly, Optic atrophy, Facial diplegia, Athetosis, Bilateral talipe... |
OMIM:617302 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Highly arched eyebrow, Supernumerary nipple, Microcephaly, 2-3 toe ... |
OMIM:618454 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Optic atrophy, Retinopath... |
ORPHA:447788 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Marshall Syndrome |
|
Retinal detachment, Radial bowing, Cataract, Coxa valga, Hypoplastic ilia, Lens luxation, Ulnar b... |
OMIM:154780 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Cerebral atrophy, Macular degene... |
OMIM:204200 |
Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Macular hypoplasia, Iris coloboma |
ORPHA:2185 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rhizomelia, Proximal femoral metaphyseal irregularity, Optic atrophy, Co... |
OMIM:602271 |
Waardenburg Syndrome, Type 1 |
|
Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Spina bifida, Synophrys, Myelome... |
OMIM:193500 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preax... |
OMIM:603671 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Attenuation of reti... |
OMIM:267750 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Sacral dimple, Single trans... |
ORPHA:93932 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short metacarpal, Cataract, Short thumb, Delayed skeletal maturation, Chorioretinal coloboma, Int... |
ORPHA:2489 |
Stiff Skin Syndrome |
|
Retinal detachment, Limitation of joint mobility, Hypertension |
ORPHA:2833 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Clinodactyly, Rod-cone dystrophy |
OMIM:615984 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory... |
OMIM:619260 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... |
ORPHA:85167 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Corneal erosion, Optic disc coloboma |
OMIM:270420 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Hypomandibular Faciocranial Dysostosis |
|
Optic disc coloboma, Craniosynostosis |
ORPHA:1790 |
Joubert Syndrome 16 |
|
Encephalocele, Retinal dystrophy, Coloboma, Polydactyly, Dandy-Walker malformation |
OMIM:614465 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, Proximal placement of thumb... |
ORPHA:261250 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Partia... |
ORPHA:171680 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cerebellar vermis hypoplasia, Cataract, Fundus atrophy, Absent fo... |
OMIM:204100 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Scoliosis, Rod-co... |
OMIM:616394 |
Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Abnormal hair morphology, Kyphosis, Abnormal sacrum morphology, ... |
ORPHA:324737 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Sacral dimple, Toe syndactyly, Tricuspid regurgitation, Camptodactyly of finge... |
ORPHA:261337 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Small for gestational age... |
OMIM:607143 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Microcephaly, Metatarsus adductus, Hypopl... |
OMIM:612513 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Partial agenesis of the corpus callosum, Aplasia... |
OMIM:222448 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Cerebellar hypoplasia, Optic nerve hypoplasia |
ORPHA:65288 |
Spondyloocular Syndrome |
|
Long toe, Retinal detachment, Osteopenia, Cataract, Overlapping toe, Arachnodactyly, Femur fractu... |
OMIM:605822 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Absent brainstem ... |
ORPHA:101085 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Abnormal retinal morphology, Albinism, Kyphosis, Osteoporosis, Platyspo... |
ORPHA:2786 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Multiple joint contractures, Hypoplasia of the pons, Knee flexion contract... |
ORPHA:468631 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... |
OMIM:617406 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Distal joint laxity, Generalized joint laxity,... |
ORPHA:1900 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Meningocele, Low posterior hairline, Fused cervical vertebrae, Pseudopa... |
ORPHA:3456 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Microcephaly, Obesity, Postaxial foot polydactyly, Macular hypopigment... |
OMIM:617119 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Anophthalmia, Abnormal location of the eyebrow, Optic nerve hypoplas... |
ORPHA:141099 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Retinitis, Microcephaly, Pos... |
OMIM:615948 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Sacral dimple, Short neck, Microcephaly, Optic disc coloboma, Short metatarsal,... |
OMIM:617157 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Thoracic scoliosis, Cerebellar vermis hypoplasia, Torticollis, Optic nerve hypoplas... |
ORPHA:300570 |
Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Rod-cone dystrophy, Hirsutism, Postaxial polydactyly |
OMIM:300804 |
Laurence-Moon Syndrome |
|
Abnormality of the hand, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Polydactyly |
OMIM:245800 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Absent nipple, Broad hallux, Single transverse palmar crease,... |
OMIM:620186 |
19P13.13 Microdeletion Syndrome |
|
Sandal gap, Optic nerve hypoplasia, Corpus callosum atrophy, Long fingers, Optic atrophy, Long ey... |
ORPHA:357001 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Polydactyly, Rod-cone dys... |
OMIM:613464 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hip dislocation, Optic nerve hypoplasia |
ORPHA:572013 |
Oligomeganephronia |
|
Branchial cyst, Hypertension, Optic disc coloboma, Small for gestational age |
ORPHA:2260 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Retinal detachment, Cataract, Genu recurvatum, Abnormal pupil morpho... |
ORPHA:2969 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus call... |
OMIM:617864 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accelerated skeletal matura... |
OMIM:602535 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Sparse eyelashes, Ectopia lentis, Sparse eyebrow, Osteoarthritis, A... |
ORPHA:560 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Bowing of the legs, Leukocoria, Telangiectasia, Hypertension, Short lower limbs |
OMIM:219250 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Single transverse palmar crease, Microcephaly, Opisthotonus, Bradycardia,... |
OMIM:220120 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Postaxial polydactyly, Cra... |
OMIM:605627 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of retinal pigmentation, Keratoconus, Cataract, Aplasia/Hypoplasia of ... |
ORPHA:65 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Hyphema, Leuk... |
OMIM:221900 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... |
OMIM:613702 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
Morm Syndrome |
|
Truncal obesity, Retinal atrophy, Retinal dystrophy, Cataract |
ORPHA:75858 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Abnormally ossified vertebrae, Cataract, Hydrocephalus, Optic atrophy, Mic... |
ORPHA:3301 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... |
ORPHA:313892 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, M... |
OMIM:617914 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Failure to thrive, Small for gestati... |
ORPHA:464311 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Distal upper limb muscle weakness, Optic nerve hypoplasia, Hypoplasia of the corpus callosum |
OMIM:615033 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Microcephaly, Hydrocephalus, Flexion contracture, Coloboma, Hyp... |
OMIM:615249 |
Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Overlapping toe, Kyphoscoliosis, Microcephaly, Optic atrophy, Osteo... |
OMIM:600118 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Leukocoria, Re... |
ORPHA:1556 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Flexion contracture, Op... |
ORPHA:272 |
Knobloch Syndrome |
|
Retinal detachment, Occipital encephalocele, Cataract, Ectopia lentis, Abnormal hair morphology, ... |
ORPHA:1571 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Alopecia, Cataract, Vitreous floaters, Poliosis, Vitritis, Retin... |
ORPHA:79098 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Small for gestational age, Camptodactyly of finger, Cataract, Short neck, Long fi... |
ORPHA:1617 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Hydrocephalus, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
OMIM:601794 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Laterally curved ey... |
OMIM:300166 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... |
OMIM:601706 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Flynn-Aird Syndrome |
|
Alopecia, Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Rod-cone dys... |
OMIM:136300 |
Albinism, Oculocutaneous, Type V |
|
Hypoplasia of the fovea, Albinism |
OMIM:615312 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... |
OMIM:616108 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Sparse scalp hair, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, F... |
OMIM:620029 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Cone-shaped epiphysis, Hyperten... |
ORPHA:3156 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Optic nerve hypoplasia, Hyperlordosis, Clinodactyly of the 2nd finger, Cone-shaped ep... |
ORPHA:221139 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... |
ORPHA:508488 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Highly arched eyebrow, Microcephaly, Synophrys, ... |
ORPHA:313781 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Retinal detachment, Prominent metopic ridge, Rieger anomaly, Tapered finger, Microcephaly, Long f... |
ORPHA:521445 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... |
OMIM:204000 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Small for gestational age, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormalit... |
ORPHA:294975 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Cerebellar vermis hypoplasia, Exaggerated startle response, Optic nerve hypoplas... |
OMIM:615574 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Obesity, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:600151 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism |
OMIM:606952 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio... |
OMIM:615994 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontoc... |
ORPHA:457284 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Retinal detachment, Recurrent joint dislocation, Cervical kyphosis, Decreased palmar creases, Tap... |
ORPHA:2953 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly, Iris coloboma, Retinal coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
ORPHA:363741 |
Alg12-Cdg |
|
Retinal detachment, Ulnar deviation of the wrist, Sandal gap, Proximal placement of thumb, Long f... |
ORPHA:79324 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Short neck, Coarse hair, Sparse hair, Dandy-Walker malformation, Tricuspid regurgitation, Highly ... |
OMIM:617506 |
Marfan Syndrome |
|
Osteopenia, Limited elbow movement, Increased axial length of the globe, Hypoplasia of the iris, ... |
ORPHA:558 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Retinal dystrophy, Cataract, Proximal placement of thumb, Microc... |
ORPHA:139471 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Cataract,... |
ORPHA:170 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Hydrocephalus, Optic atrophy, T... |
ORPHA:93400 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Highly arched eyebrow... |
OMIM:614424 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hyperlordosis, Kyphosis, Short toe, Delayed skelet... |
ORPHA:3085 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Delayed skeletal maturati... |
OMIM:607872 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Retinal detachment, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Pr... |
OMIM:225400 |
Aland Island Eye Disease |
|
Hypoplasia of the fovea, Astigmatism, Albinism |
OMIM:300600 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, R... |
OMIM:609033 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Ulnar deviation of finger, Microcornea, Coloboma, Radioulnar synostosi... |
ORPHA:921 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy |
OMIM:183800 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Ankle swelling, Microcephaly, Wrist swelling, Retinal pig... |
ORPHA:448237 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Cerebellar hypoplasia, Microphthalmia, Hydrocephalus, Retinal dysplasia |
OMIM:614830 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Short neck, Myelomeningocele, Hydrocephalus, Optic atrophy, Punctate vertebral calcific... |
ORPHA:1914 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim... |
OMIM:607323 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypoplasia of the brainste... |
OMIM:615771 |
Von Hippel-Lindau Disease |
|
Back pain, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adeno... |
ORPHA:892 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Lens coloboma, Agenesis of corpus c... |
ORPHA:42775 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Postaxial polydactyly,... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Postaxial polydactyly,... |
ORPHA:352665 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dyst... |
ORPHA:2526 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Short neck, Abnorm... |
ORPHA:233 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Aplasia/Hypoplasia of the cerebe... |
ORPHA:649 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Lissencephaly 8 |
|
Occipital encephalocele, Cataract, Microcephaly, Optic atrophy, Hypoplasia of the brainstem, Tali... |
OMIM:617255 |
Prune1-Related Neurological Syndrome |
|
Cataract, Microcephaly, Optic atrophy, Cerebral atrophy, Bilateral talipes equinovarus, Scoliosis... |
ORPHA:544469 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo... |
OMIM:617102 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Flexion contrac... |
OMIM:619321 |
Pancreatic And Cerebellar Agenesis |
|
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Joint stiffness, Microcephaly, Flexion con... |
OMIM:609069 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypoplasia of the brainstem, Iris coloboma, Abnormal optic chiasm morphology, Tapered finger, Ast... |
ORPHA:268261 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Obesity, Aplasia/Hypoplasia of the cerebellum, Age... |
ORPHA:3157 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Retinal dystrophy, Hypoplasia of the femoral head, Obesity, Macular degeneration, Pol... |
OMIM:616629 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Kapur-Toriello Syndrome |
|
Cataract, Single transverse palmar crease, Camptodactyly of finger, Short neck, Short thumb, Low ... |
OMIM:244300 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Prominent metopic ridge, Sacral dimple, Small for gestational age, Overlapping toe, Postaxial pol... |
OMIM:613792 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Postaxial fo... |
OMIM:615996 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Sho... |
OMIM:132450 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, F... |
OMIM:607196 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Cataract, Hydrocephalus, Optic atrophy, Hy... |
OMIM:615191 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Cataract, Joint stiffness, Mic... |
ORPHA:2510 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Cataract, Optic atrophy, Abnormality of skin pigmentation, Coloboma... |
OMIM:612379 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Optic atrophy, Sensory axonal neuropathy |
ORPHA:329314 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Alobar holoprosencephaly, Vertebral ... |
OMIM:301043 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Åland Islands Eye Disease |
|
Hypoplasia of the fovea, Astigmatism, Hypopigmentation of the fundus |
ORPHA:178333 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Abnormal form of the vertebral bod... |
ORPHA:2839 |
Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir... |
OMIM:107320 |
Stickler Syndrome |
|
Joint dislocation, Osteoarthritis, Bone pain, Abnormal form of the vertebral bodies, Reduced bone... |
ORPHA:828 |
Marfan Syndrome |
|
Genu recurvatum, Equinus calcaneus, Flexion contracture, Increased axial length of the globe, Hyp... |
OMIM:154700 |
Maternally-Inherited Diabetes And Deafness |
|
Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, ... |
ORPHA:225 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Microcephaly, Optic atro... |
ORPHA:1590 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Cataract, Retinal dystrophy, Childhood-onset truncal obesity |
OMIM:610156 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Suleiman-El-Hattab Syndrome |
|
Optic disc pallor, Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal... |
OMIM:618950 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Cerebellar vermis hypoplasia, Corneal opacity, Optic nerve hypoplasia, Corneal dys... |
ORPHA:495875 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Seckel Syndrome 10 |
|
Retinal detachment, Microcephaly, Congestive heart failure, Metaphyseal widening, Cone-shaped epi... |
OMIM:617253 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cataract, Microcephaly, Optic atrophy, Talipes equinovarus, Hypoplasia of the corpus callosum, Sc... |
OMIM:617481 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral co... |
ORPHA:3173 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Obesity, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-co... |
OMIM:616562 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the hand, Sparse hair, Uncombable hair, Juven... |
ORPHA:1264 |
Developmental And Epileptic Encephalopathy 83 |
|
Hypoplasia of the fovea, Highly arched eyebrow, Microcephaly, Synophrys, Genu valgum, Hypoplasia ... |
OMIM:618744 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Sandal gap, Abnormal retinal vascular morphology, ... |
ORPHA:2715 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Keratitis, Abnormal pupil morphology, Vitritis, Abnormal vitreous humor morphology, Ret... |
ORPHA:209959 |
Joubert Syndrome 7 |
|
Encephalocele, Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum,... |
OMIM:611560 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor |
OMIM:614307 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Optic nerve hypoplasia, Hand oligodactyly, Anisocoria, Abnormal pupil shape |
ORPHA:45358 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiff... |
ORPHA:585 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Microcornea, Chorioretinal coloboma, Prominent fin... |
OMIM:309800 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Cataract, Postural tremor, Optic atrophy, Upper limb amyotrophy, Scoliosis |
OMIM:270800 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Obesity, Short long bone, Rod-cone dystrophy, Brachydactyly |
OMIM:615633 |
Cohen Syndrome |
|
Low anterior hairline, Abnormality of skin pigmentation, Clinodactyly of the 5th finger, Iris col... |
ORPHA:193 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormally large globe, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous ... |
ORPHA:363417 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Bardet-Biedl Syndrome 8 |
|
Rod-cone dystrophy, Obesity, Postaxial polydactyly |
OMIM:615985 |
Lamb-Shaffer Syndrome |
|
Microcephaly, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Bilateral single transverse palmar ... |
ORPHA:44 |
Trisomy 13 |
|
Anophthalmia, Cataract, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Postax... |
ORPHA:3378 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Retinopathy, Postaxial polydactyly |
OMIM:614970 |
Jaberi-Elahi Syndrome |
|
Dandy-Walker malformation, Brittle hair, Sparse eyelashes, Cataract, Dystonia, Joint stiffness, S... |
OMIM:617988 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Me... |
OMIM:600775 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly, Obesity, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal degeneratio... |
OMIM:209900 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Jacobsen Syndrome |
|
Short neck, Abnormal eyelash morphology, Microcephaly, Hydrocephalus, Flexion contracture, Optic ... |
OMIM:147791 |
Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Abnormal finger morphology, Abnormal form of the verte... |
ORPHA:744 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Infantile Refsum Disease |
|
Cataract, Facial palsy, Rod-cone dystrophy, Optic atrophy, Cardiomyopathy, Abnormal epiphysis mor... |
ORPHA:772 |
3Q29 Microdeletion Syndrome |
|
Cataract, Tapered finger, Microcephaly, Abnormality of skin pigmentation, Joint hyperflexibility,... |
ORPHA:65286 |
Cysticercosis |
|
Retinal detachment, Abnormal optic chiasm morphology, Stiff neck, Chorioretinitis, Abnormality of... |
ORPHA:1560 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Short neck, Overweight, Delayed proximal femoral epiphyseal ossification,... |
ORPHA:226307 |
Joubert Syndrome 27 |
|
Retinopathy, Polydactyly |
OMIM:617120 |
Hydranencephaly |
|
Stiff neck, Optic nerve hypoplasia, Chorioretinal atrophy, Opisthotonus, Primary microcephaly, In... |
ORPHA:2177 |
Marinesco-Sjögren Syndrome |
|
Short palm, Cataract, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microcepha... |
ORPHA:559 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microcephaly, Aplasia/Hypoplasia ... |
ORPHA:290 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Bowing of the long bones, Recurrent fractures, Optic atrophy... |
ORPHA:2801 |
Retinitis Pigmentosa 89 |
|
Hyperautofluorescent retinal lesion, Rod-cone dystrophy, Retinal thinning, Postaxial polydactyly |
OMIM:618955 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Overlapping toe, Short neck, Astigmatism, Retinal coloboma, Horizontal eyebrow, Scolios... |
OMIM:618571 |
Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, T-wave inversion, Genera... |
ORPHA:228346 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Retinal detachment, Joint laxity, Tricuspid regurgitation, Arachnodactyly, Aor... |
OMIM:601776 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Cutaneous syndactyly, Polydactyly, Nail dysplasia, Camptodactyly, Small nail, Toenail... |
OMIM:607539 |
Warburg Micro Syndrome 3 |
|
Cataract, Kyphoscoliosis, Microcephaly, Flexion contracture, Optic atrophy, Low anterior hairline... |
OMIM:614222 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cataract, Secondary microcephaly, Cerebellar hypoplasia, Neonatal death, Micro... |
OMIM:613730 |
Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, H... |
ORPHA:59315 |
Flynn-Aird Syndrome |
|
Alopecia, Cataract, Cachexia, Joint stiffness, Kyphosis, Scoliosis, Rod-cone dystrophy, Cerebral ... |
ORPHA:2047 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Septo-optic dysplasia, Optic nerve hypoplasia, Delayed skeletal maturation, Agenesis ... |
ORPHA:95494 |
Frontonasal Dysplasia 1 |
|
Cataract, Postaxial hand polydactyly, Widow's peak, Anterior basal encephalocele, Pectoral muscle... |
OMIM:136760 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma, Microcornea |
OMIM:251505 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Aganglionic megacolon, Highly arc... |
ORPHA:220493 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Joint stiffness, Hypoplasia of the pons, Optic atr... |
ORPHA:1493 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Osteomyelitis, Cataract, ... |
ORPHA:88628 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Cataract, Broad hallux, Single transverse palmar crease, Microcephaly, Retinal pigment epithelial... |
OMIM:614105 |
Gorlin Syndrome |
|
Vertebral fusion, Cataract, Arachnodactyly, Palmar pits, Hydrocephalus, Hemivertebrae, Vertebral ... |
ORPHA:377 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Scoliosis, Cerebral corti... |
OMIM:619527 |
Knobloch Syndrome 2 |
|
Encephalocele, Retinal detachment, Anterior cortical cataract, Vitreous floaters, Vitreoretinopathy |
OMIM:618458 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma, Postaxial polydactyly |
OMIM:613094 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Coronal cleft vertebrae, Talipes e... |
OMIM:620025 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hypermelanotic macule, Hydrocephal... |
ORPHA:60040 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Low posterior hairline, Abnormal shoulder m... |
ORPHA:2345 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Heart block, Cardiomyopathy, Ham... |
ORPHA:773 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly, Obesity, Coloboma, Microphthalmia |
ORPHA:141333 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Rod-co... |
OMIM:612674 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Hypertension, Chorioretinal coloboma, Agen... |
OMIM:619111 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hemivertebrae, Cerebellar hemisphere hypoplasia, Lumbar hyperlordosis, Arachnodactyly, Sagittal c... |
ORPHA:500150 |
Joubert Syndrome 9 |
|
Encephalocele, Cataract, Retinal dystrophy, Astigmatism, Scoliosis |
OMIM:612285 |
Hypomelanosis Of Ito |
|
Syndactyly, Alopecia, Cataract, Microcephaly, Macular hypopigmented whorls, streaks, and patches,... |
OMIM:300337 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Coloboma, Peters anomaly, Microphthalmia, Clinodactyly, Ocular anterior segment dysge... |
OMIM:610023 |
Familial Benign Copper Deficiency |
|
Early balding, Diaphyseal thickening, Aplasia/Hypoplasia of the fovea |
ORPHA:1551 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Cataract, Single transverse palmar crease, Metatarsus adductus, Brushfield spo... |
OMIM:214110 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cataract, Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone... |
OMIM:266500 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Macular hypoplasia, Chor... |
OMIM:615219 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Peroxisome Biogenesis Disorder 8B |
|
Cataract, Retinal dystrophy, Corpus callosum atrophy, Optic atrophy, Limb tremor, Ankle clonus, F... |
OMIM:614877 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy... |
ORPHA:1021 |
Warburg Micro Syndrome 2 |
|
Cataract, Overlapping toe, Microcephaly, Flexion contracture, Optic atrophy, Low anterior hairlin... |
OMIM:614225 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Bull's eye maculopathy, Large for gestational age, Short... |
OMIM:213980 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Proximal femoral metaphyseal irregularity,... |
ORPHA:397715 |
Mend Syndrome |
|
Sacral dimple, Cataract, Overlapping toe, Broad hallux, Long fingers, Kyphosis, Hydrocephalus, 2-... |
OMIM:300960 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad... |
OMIM:120400 |
Atelis Syndrome 2 |
|
Sacral dimple, Remnants of the hyaloid vascular system, Single transverse palmar crease, Microcep... |
OMIM:620185 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Aganglionic megacolon, Highly arc... |
ORPHA:2318 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Microcephaly, Abnormal eyelash morphology, Optic atrophy, Sc... |
ORPHA:2518 |
Wolfram Syndrome 1 |
|
Cataract, Tremor, Optic atrophy, Limited mobility of proximal interphalangeal joint, Cerebral atr... |
OMIM:222300 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rocker bottom foot, Single transverse palmar crease, Postaxial poly... |
OMIM:617527 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Microcephaly, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Ro... |
OMIM:300578 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Camptodactyly of finger, Kyphosis, Osteoporosis, Microcornea, Long eyelashes, Motor axo... |
ORPHA:48431 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly... |
OMIM:311900 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Alg8-Cdg |
|
Cataract, Small for gestational age, Optic atrophy, Talipes equinovarus, Hypoplasia of the corpus... |
ORPHA:79325 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Abnormal hair morphology, ... |
ORPHA:414 |
Coffin-Lowry Syndrome |
|
Abnormal form of the vertebral bodies, Hyperconvex fingernails, Aplasia/Hypoplasia of the cerebel... |
ORPHA:192 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Partial agenesis ... |
OMIM:610829 |
Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Tortuosity of conjunctival vessels, Ankle clonus, Macular degeneration, Intention tremor |
ORPHA:284289 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Tricuspid regurgitation, Cerebellar vermis hypoplasia, Highly arched eyebrow, Post... |
OMIM:618460 |
Monosomy 9Q22.3 |
|
Cataract, Large for gestational age, Palmar pits, Short neck, Accelerated skeletal maturation, Ky... |
ORPHA:77301 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, H... |
OMIM:616546 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Genu recurvatum, Single transverse palmar crease, Camptodactyly of finger, Sho... |
ORPHA:915 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Cataract, Spina bifida, Microcephaly, Abnormal hair morphology... |
ORPHA:64754 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Abnormal ... |
ORPHA:2332 |
Trisomy 18 |
|
Microcornea, Holoprosencephaly, Abnormal toenail morphology, Iris coloboma, Bilateral single tran... |
ORPHA:3380 |
Muscle-Eye-Brain Disease |
|
Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the... |
ORPHA:588 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanoc... |
ORPHA:54 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Small for gestational age, Single transverse palmar creas... |
OMIM:123450 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, Bifid distal phalanx of th... |
ORPHA:370010 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Albinism, Ocular albinism, Absent foveal reflex, Macular hypoplasia, Hypopigmentation ... |
OMIM:614075 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Papilledema, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteol... |
ORPHA:371428 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Optic atrophy, Abnormal form of the vertebral bodies, Umbilical hernia... |
ORPHA:93399 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Hyperopic... |
OMIM:252600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hypoplasia of the pons, Hydrocephalus, Flexion contracture, Optic atrophy, Developmental cataract... |
OMIM:613154 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Decreased nerve conduction velocity, Kyphosis, Delayed skeletal matura... |
ORPHA:812 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Cataract, Sandal gap, Broad hallux, Scarring alopecia of scalp, Optic atrophy, Ect... |
OMIM:618727 |
Coach Syndrome 1 |
|
Encephalocele, Optic disc pallor, Occipital encephalocele, Cerebellar vermis hypoplasia, Portal h... |
OMIM:216360 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Joint laxity, Cerebellar vermis hypoplasia, Sandal gap, Optic nerve hypop... |
OMIM:620330 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Optic ... |
OMIM:268315 |
Chops Syndrome |
|
Curly hair, Cataract, Thick hair, Microcephaly, Synophrys, Optic atrophy, Obesity, Coarse hair, L... |
OMIM:616368 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Microcephaly |
OMIM:257910 |
Oculodentodigital Dysplasia |
|
Brittle hair, Abnormal form of the vertebral bodies, Microcornea, Sparse hair, Clinodactyly of th... |
ORPHA:2710 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Hypoplasia of the brainstem, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:464306 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Abnormal ossification involving the femoral head and ... |
ORPHA:1190 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Brittle hair, Genu recurvatum, Synophrys, Lens coloboma,... |
OMIM:619539 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Sparse scalp hair, Increased bone mineral density, Telangiec... |
ORPHA:902 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Hip dysplasi... |
OMIM:614576 |
4H Leukodystrophy |
|
Cataract, Tremor, Optic atrophy, Hypoplasia of the corpus callosum, Dystonia |
ORPHA:289494 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Abnormal retinal morphology, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Small for gestational age, Proximal placement of thumb, Microcephaly, Abnormal thum... |
ORPHA:94065 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic fingernail, Cataract, Microcephaly, Hypoplastic toenails, Optic atrophy, Low anterior... |
OMIM:220500 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Prominent metopic ridge, Retinal atrophy, Ulnar deviation of the wrist, Microc... |
ORPHA:97297 |
Senior-Loken Syndrome 8 |
|
Rod-cone dystrophy, Retinal dystrophy, Polydactyly, Macular atrophy |
OMIM:616307 |
Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Retinal detachment, Pericarditis, Epistaxis, Hematemesis, Myocarditi... |
ORPHA:73263 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Obesity, Asti... |
OMIM:619471 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Catarac... |
ORPHA:99956 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Cataract, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Palmar pits, Hy... |
OMIM:109400 |
Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia, Failure to thrive |
ORPHA:95496 |
Isolated Atp Synthase Deficiency |
|
Cataract, Microcephaly, Dilated cardiomyopathy, Optic atrophy, Arrhythmia, Dystonia, Hypertrophic... |
ORPHA:254913 |
Kapur-Toriello Syndrome |
|
Short neck, Retinal coloboma, Microphthalmia, Failure to thrive, Iris coloboma |
ORPHA:2328 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus |
OMIM:300500 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Microcephaly, Small hand, Narrow palm, Holoprosencephaly, S... |
ORPHA:1445 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Freckling, Microcephaly, Decreased nerve conduction velocity, Optic atrophy, Pigmentary... |
OMIM:610651 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Retinal coloboma, Macular coloboma |
OMIM:107550 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Metaphyseal widening, Tibial bowing, Iris atrophy, Osteoporosis, Increased susceptibi... |
OMIM:259770 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Ab... |
ORPHA:2886 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Silver-gray hair, Myopic astigma... |
OMIM:614077 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Short neck, Pigmentary retinopathy, Hypopla... |
OMIM:614230 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology |
ORPHA:370091 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Corneal erosion, ... |
ORPHA:87 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p... |
ORPHA:65759 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Retinal telangiectasia, Tremor, Premature graying of hair, Intestinal bleeding, Spars... |
OMIM:612199 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Microcephaly, Kyphosis, Achille... |
OMIM:606612 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Attenuation of retinal blood vessels, Cataract, Rhizomelia, Supernumerary nipple, Short iliac bon... |
OMIM:614376 |
Vici Syndrome |
|
Hypopigmentation of hair, Cerebellar vermis hypoplasia, Cataract, Macular atrophy, Albinism, Micr... |
OMIM:242840 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Optic disc pallor, Cerebellar vermis hypoplasia, Small for gestational age, Cataract,... |
OMIM:619869 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormality of... |
OMIM:184705 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Retinoschisis, Action tremor |
OMIM:615651 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar... |
OMIM:216900 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Postaxial polydactyly, ... |
OMIM:619562 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris transillum... |
OMIM:619172 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Supernumerary nipple, Widow's peak, Supernumerary ribs, Six lumbar vertebrae, J... |
OMIM:619122 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Intermediate Uveitis |
|
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... |
ORPHA:279914 |
Werner Syndrome |
|
Low back pain, Cataract, Osteoporosis, Reduced bone mineral density, Alopecia of scalp, Retinal d... |
OMIM:277700 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Cataract |
OMIM:619780 |
Postaxial Acrofacial Dysostosis |
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Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Short thumb... |
OMIM:263750 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Communicating hydrocephalus, Short fourth metatarsal, Septo-optic dysplasia, Cerebellar vermis hy... |
OMIM:619841 |
Hermansky-Pudlak Syndrome 4 |
|
Hypoplasia of the fovea, Ocular albinism, Epistaxis, Albinism |
OMIM:614073 |
Cockayne Syndrome A |
|
Dry hair, Abnormal peripheral myelination, Tremor, Ivory epiphyses of the phalanges of the hand, ... |
OMIM:216400 |
Oculogastrointestinal Neurodevelopmental Syndrome |
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Sacral dimple, Microcephaly, Bilateral microphthalmos, Hemivertebrae, Unilateral microphthalmos, ... |
OMIM:619318 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Reduced bone mineral density, Shoulder dislocation, Axonal loss, Dela... |
ORPHA:404454 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Hypoplasia of the brainstem, Hypopigmentation of the skin, Dandy-Walker m... |
OMIM:251300 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Microcephaly, Polydactyly, Tali... |
OMIM:613885 |
Ermine Phenotype |
|
Hypopigmentation of hair, Toe syndactyly, Microcephaly, Ocular albinism, Hypopigmented skin patch... |
ORPHA:999 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... |
ORPHA:189 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys, Low anterio... |
OMIM:615761 |
Leber Optic Atrophy |
|
Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb... |
OMIM:535000 |
Koolen-De Vries Syndrome |
|
Prominent fingertip pads, Iris hypopigmentation, Vertebral fusion, Prominent metopic ridge, Hypot... |
OMIM:610443 |
Keratoconus Posticus Circumscriptus |
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Keratoconus, Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, ... |
OMIM:244600 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Short neck, Hemivertebrae, Sparse hair, Dandy-Walker malformation, Rhizomelia, Sparse eyebrow, Ep... |
OMIM:302960 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Decreased nerve conduction velocity, ... |
OMIM:214500 |
Autosomal Dominant Optic Atrophy, Classic Form |
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Scapular winging, Cataract, Morning glory anomaly, Corpus callosum atrophy, Optic atrophy, Tempor... |
ORPHA:98673 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
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Joint laxity, Prominent metopic ridge, Arachnodactyly, Hyperconvex nail, Postaxial polydactyly, T... |
OMIM:619721 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Retinal vein occlusion, Pseud... |
OMIM:177650 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability, Microcephaly |
OMIM:251250 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
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Optic neuropathy, Kyphoscoliosis, Microcephaly, Delayed skeletal maturation, Clinodactyly of the ... |
OMIM:620237 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Persistent open anterior fontanelle, Single transverse palmar crease, Agenesis of corpus callosum... |
OMIM:614866 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Single transverse palmar crease, Sclerocornea, Microcornea, Coloboma, Clinodactyly ... |
OMIM:607932 |
Marcus-Gunn Syndrome |
|
Coloboma, Abnormal fifth cranial nerve morphology, Morning glory anomaly |
ORPHA:91412 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Anophthalmia, Foot joint contracture, Hypermelanotic macule,... |
ORPHA:90321 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma, Deep palmar crease |
OMIM:600251 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Osteopenia, Short neck, Short metatarsal, Macular degeneration, Clinodactyly of the 5th finger, S... |
OMIM:266920 |
Neurofibromatosis Type 1 |
|
Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spinal neurofibroma, Genu varum, ... |
ORPHA:636 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Cataract, Arachnodactyly, Corneal opacity, Microcephaly, Abnormal thumb... |
ORPHA:2719 |
Viss Syndrome |
|
Epidural hemorrhage, Generalized joint laxity, Long toe, Joint laxity, Alopecia, Arachnodactyly, ... |
OMIM:619472 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia |
OMIM:602501 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Tapered finger, Long fingers, Short toe, 2-3 toe syndactyly, Cerebra... |
OMIM:618659 |
Zellweger Syndrome |
|
Posterior embryotoxon, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Microcephaly... |
ORPHA:912 |
Familial Multiple Lipomatosis |
|
Bowing of the long bones, Accelerated skeletal maturation, Chorioretinitis, Coloboma, Hypoplasia ... |
ORPHA:199276 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Microcornea, Coloboma, Iris transillumination defect, O... |
OMIM:617306 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Pigmentary retinopathy, Cataract, Tremor |
ORPHA:79095 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Congenital hip dislocation, Brittle hair, Anophthalmia, Os... |
OMIM:305600 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Aortic regurgitation, Cataract, Corneal opacity, Subcortical cereb... |
ORPHA:309288 |
Joubert Syndrome 8 |
|
Optic disc pallor, Occipital encephalocele, Pigmentary retinopathy, Obesity |
OMIM:612291 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Epiphyseal dysplasia, Short nail, Micromelia, Short neck, Microcephaly, Cerebral atrophy, Microco... |
ORPHA:1675 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Polydactyly, Rod-cone dystrophy |
OMIM:615989 |
Cockayne Syndrome Type 3 |
|
Dry hair, Flexion contracture, Premature graying of hair, Microcornea, Lentiglobus, Retinal degen... |
ORPHA:90324 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Rod-cone dystrophy, Cataract |
OMIM:614879 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Sparse hair, Vertebral fusion, Short toe, 2-3 toe syndactyly,... |
OMIM:139210 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... |
ORPHA:93315 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the p... |
OMIM:616975 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Single transverse palmar crease, Highly arched eyebrow, Microcephaly, Synophrys, Partial absence ... |
ORPHA:329224 |
Mucopolysaccharidosis Type 3 |
|
Synophrys, Flexion contracture, Atrioventricular block, Abnormal form of the vertebral bodies, Re... |
ORPHA:581 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Microcephaly, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy, Global... |
OMIM:616811 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Delayed skeletal maturation, ... |
OMIM:617927 |
Ramon Syndrome |
|
Optic disc pallor, Kyphosis, Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly, Scoliosis,... |
OMIM:266270 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Ulnar deviation of the hand, Cataract, Single transverse palmar crease, Rocker... |
OMIM:214100 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Single transverse palmar crease, Sclerocornea, Microcephaly, Junctional ectopic tachyca... |
OMIM:309801 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar vermis hypoplasia, Cataract, Optic atrophy, Opto-chiasmatic atrophy, Cardiomyopathy |
OMIM:620089 |
Mevalonic Aciduria |
|
Optic disc pallor, Agenesis of cerebellar vermis, Failure to thrive in infancy, Cataract, Kyphosc... |
OMIM:610377 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Short neck, Sparse hair, Clinodactyly of the... |
OMIM:115150 |
Rabson-Mendenhall Syndrome |
|
Thick hair, Onychauxis, Delayed skeletal maturation, Low anterior hairline, Premature graying of ... |
ORPHA:769 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpa... |
ORPHA:90652 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Iris transillumination defect |
OMIM:614074 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Baraitser-Winter Syndrome 2 |
|
Highly arched eyebrow, Short neck, Coloboma, Secondary microcephaly, Microphthalmia, Agenesis of ... |
OMIM:614583 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Cataract, Large for gestational age, Abnormal thumb morphology, Metatarsus adductus, Tibial bowin... |
ORPHA:500095 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Re... |
ORPHA:280921 |
Joubert Syndrome 37 |
|
Prominent metopic ridge, Lumbar hyperlordosis, Cerebellar vermis hypoplasia, Postaxial polydactyl... |
OMIM:619185 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Short neck, Microcephaly, Holoprose... |
ORPHA:1587 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Optic neuropathy, Increased intervertebral space, Phthisis bulbi, Broad is... |
OMIM:619727 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis,... |
OMIM:610756 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Delayed closure of the anterior fontanelle, Delayed skeletal maturatio... |
ORPHA:231140 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Vestibular areflexia, Abnormal cardiovascular syst... |
ORPHA:886 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Diaphanospondylodysostosis |
|
Short neck, Myelomeningocele, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, ... |
ORPHA:66637 |
Frontorhiny |
|
Encephalocele, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Widow's peak, Aplasia/Hyp... |
ORPHA:391474 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hydrocephalus, Hemivertebrae, Low posterior hairline, Coloboma, Pulmonic stenosis, In... |
OMIM:220210 |
Mycophenolate Mofetil Embryopathy |
|
Hypoplastic toenails, Hydrocephalus, Bifid thoracic vertebrae, Foot polydactyly, Chorioretinal co... |
ORPHA:268249 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Sclerocornea, Abnormal form of the vertebral bodies, Hol... |
ORPHA:818 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Accelerated skeletal maturation, Vertebral segmentation defect, Nar... |
OMIM:312870 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Short neck, Short middle phalanx of the 2nd finger, Partial duplication ... |
OMIM:617926 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Cataract, Hydrocephalus, Buphthalmos, Hypoplasia... |
OMIM:616538 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Arachnodactyly, Hydrocephalus, White hair, Ocular albinism, Reduced bone mineral densit... |
ORPHA:2720 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Small hand, Obesity, Osteoporosis, Short foot, Hip dysplasi... |
ORPHA:398079 |
Cockayne Syndrome |
|
Dry hair, Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degenerat... |
ORPHA:191 |
Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cere... |
OMIM:614815 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Wormian bones, Cerebellar vermis hypoplasia, Delayed clos... |
ORPHA:2962 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short... |
OMIM:212720 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Cataract, Arachnodactyly, Abnormality of hair texture... |
ORPHA:96169 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Cataract, Microcephaly, Optic atrophy, Hy... |
ORPHA:543470 |
Joubert Syndrome 23 |
|
Coloboma, Polydactyly |
OMIM:616490 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Microcephaly, Abnormal hair whorl, ... |
OMIM:616362 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Increased bone mineral density, Small for gestational age, Delayed closure of the an... |
OMIM:127000 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Cataract, Buphthalmos, Hypoplasia of the corpus ... |
ORPHA:370997 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Communicating hydrocephalus, Short neck, Cortical thickening of long bone diaphyses, ... |
ORPHA:309282 |
Polydactyly, Postaxial, Type A8 |
|
Nail dysplasia, Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Tarsal synostosis, Elbow contracture, Multiple pterygia, Short... |
OMIM:178110 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Spina bifida, Ab... |
ORPHA:894 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Abnormal chorioretinal morphology, Catarac... |
ORPHA:564 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Obesity, Blue irides, ... |
OMIM:614613 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Widow's peak, Coloboma, Clinodactyly of the 5th finger, Microphthalmia, Conjuncti... |
OMIM:167730 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albinism, Epistaxis, Ocu... |
ORPHA:79430 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Proximal muscle weakness in upper limb... |
ORPHA:466768 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly, Flexion contra... |
OMIM:227645 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Abnormal form of the vertebral bodies, Hyperconvex fingernails, ... |
OMIM:194190 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cataract, Microcephaly, Hydrocephalus, Short foot, Joint hy... |
ORPHA:250989 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Enlarged joints, Tapered finger, Short neck, Flattened epiphysis, Genu valg... |
OMIM:607131 |
Stevenson-Carey Syndrome |
|
Coloboma, Hip dysplasia, Cerebellar hypoplasia, Scoliosis, Camptodactyly, Hypoplasia of the corpu... |
OMIM:611961 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... |
ORPHA:67036 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short neck, Premature... |
OMIM:113620 |
Cowden Syndrome 5 |
|
Cataract, Kyphosis, Angioid streaks of the fundus, Palmoplantar hyperkeratosis, Scoliosis, Intent... |
OMIM:615108 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Hydrocephalu... |
OMIM:615287 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Microcephaly, Sparse eyebrow, Abnormal eyelash morphology, Widow's pea... |
ORPHA:2399 |
Adams-Oliver Syndrome |
|
Absent fingernail, Sparse hair, Encephalocele, Finger syndactyly, Alopecia, Portal hypertension, ... |
ORPHA:974 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Cataract, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence, Pigmentary re... |
OMIM:240300 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... |
ORPHA:435638 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Osteoporosis, Cerebral atrop... |
OMIM:213700 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Coloboma, Secondary microcephaly, Peters anomaly, Microphthalmia, Abnorm... |
OMIM:618652 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Microcephaly, Alobar holoprosencephaly, Cerebellar hypop... |
OMIM:157170 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Flexion contracture, Low anterior hairline, Coloboma, Hypoplasti... |
OMIM:180849 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Kyphosis, Flexion contracture, Small hand, Increased body w... |
ORPHA:398069 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fu... |
OMIM:135100 |
Adnp Syndrome |
|
Single transverse palmar crease, Abnormal finger morphology, Juvenile cataract, Abnormality of th... |
ORPHA:404448 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Cataract, Telangiectasia of the skin, Myocardial infarction, Weight ... |
ORPHA:679 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Cowden Syndrome 6 |
|
Cataract, Kyphosis, Angioid streaks of the fundus, Palmoplantar hyperkeratosis, Scoliosis, Intent... |
OMIM:615109 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Microcephaly, Obesity, Patellar hypoplasia, Coloboma, Hypopl... |
ORPHA:464288 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypoplas... |
OMIM:108720 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Cerebral atrophy, Astigm... |
OMIM:617296 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Narrow palm, Obesity, Small hand, Short foot, Abnormal ulnar metaphysis... |
ORPHA:177910 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Highly arched eyebrow, Kyphosis, Low anterior hairline, 2-3 toe syndactyly... |
ORPHA:404440 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Thauvin-Robinet-Faivre Syndrome |
|
Bowing of the legs, Large for gestational age, Coloboma, Large hands, Retinal coloboma, Long hallux |
OMIM:617107 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Vitritis, Abnormality of skin pigmentation, ... |
ORPHA:2556 |
Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Failure to... |
OMIM:169400 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Retinal crystals,... |
OMIM:259900 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Microcephaly, Flexion contracture, Low posterior hairline, C... |
OMIM:616549 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Preaxial hand polydactyly,... |
ORPHA:2211 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Telangiectasia of the skin, Hypermelanotic macul... |
ORPHA:910 |
Nail-Patella Syndrome |
|
Ridged nail, Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcorne... |
OMIM:161200 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Anterior encephalocele, Coloboma, Foot oligodactyly, Holoprosencephaly, Scoliosis |
OMIM:601357 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Low anterior hairline, Coxa vara, Microcornea, Wrist flexion contracture,... |
ORPHA:800 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short neck,... |
OMIM:261540 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Microcephaly, Preaxial polydactyly... |
OMIM:618142 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Postaxial polydactyly, Posta... |
OMIM:614175 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Cataract, Craniosynostosis, Short neck, Microcephaly, Sclerocornea, O... |
ORPHA:251038 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Microcephaly, Synophry... |
OMIM:148050 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... |
OMIM:607155 |
Blau Syndrome |
|
Pericarditis, Cataract, Camptodactyly of finger, Facial palsy, Abnormal retinal vascular morpholo... |
ORPHA:90340 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Short neck, Generalized joint laxity, Tibial bowing, Coloboma, Clinodactyly of the 5t... |
ORPHA:251028 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... |
OMIM:274000 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Elsahy-Waters Syndrome |
|
Cataract, Synophrys, Phthisis bulbi, Shortening of all phalanges of fingers, Cutaneous finger syn... |
OMIM:211380 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia, Microcephaly |
OMIM:616910 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Short neck, Delayed ep... |
OMIM:210710 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Squared iliac bones, H... |
OMIM:618000 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Abnormality of the cervical spine, Cataract, Broad hallux, Cardiac conduction abnor... |
ORPHA:353281 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, P... |
OMIM:227646 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Cataract, Sclerocornea, 2-3 toe syndactyly, Microcornea, Coloboma, Ecto... |
OMIM:615877 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Raynaud phenomenon, Melanocytic nevus, Coloboma, Patchy alopecia, Pheochromocytoma,... |
ORPHA:2874 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Microcephaly, Overweight, Syno... |
OMIM:617796 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Hydrocephalus, Meningocele, Sclerosis of skull base, Coar... |
OMIM:130720 |
Cowden Syndrome 1 |
|
Cataract, Kyphosis, Angioid streaks of the fundus, Palmoplantar hyperkeratosis, Scoliosis, Intent... |
OMIM:158350 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Alopecia, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Abnormal toe morpholo... |
OMIM:163200 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly, Prolonged G2 p... |
OMIM:600901 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Single transverse palmar crease, Synophrys, Abnormal curvature of the vertebral column... |
OMIM:619475 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Myelomeningo... |
OMIM:613686 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Small for gestational age, Short 5th finger, Polydactyly, Ectrodactyly, Small placent... |
ORPHA:397590 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly, Prolonged G2 p... |
OMIM:227650 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Supernumerary ribs, Scoliosis, Butter... |
OMIM:122600 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Cataract, Angina pectoris, Transient ischemic a... |
ORPHA:324 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephalus, Pol... |
OMIM:175780 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Postaxial polydactyly, Abnormally large globe, Kyphosis, Hydrocephalus, Knee ... |
OMIM:603387 |
Blau Syndrome |
|
Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Arthritis, Joint sw... |
OMIM:186580 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Band keratopathy, Chorioretinal atrophy,... |
OMIM:118450 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Synophrys, Low anterior hairline, Bone pain, Coarse hair, Decreased skull... |
ORPHA:955 |
22Q11.2 Deletion Syndrome |
|
Short neck, Arachnodactyly, Spina bifida, Obesity, Multiple suture craniosynostosis, Joint hyperf... |
ORPHA:567 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ... |
ORPHA:2756 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Premature graying of hair, Microcornea, Short palm, Sparse hair, Abse... |
OMIM:268400 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... |
ORPHA:895 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Microcephaly, Sy... |
ORPHA:2884 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... |
ORPHA:2885 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Tremor, Synophrys, Hypoplastic vertebral bodies, Sparse hair, ... |
ORPHA:3455 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Low posterior hairline, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral... |
OMIM:214300 |
Cystinosis, Nephropathic |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pig... |
OMIM:219800 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Tremor, Postaxial polydactyly, Microcephaly |
ORPHA:544254 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Abnormal vertebral morphology, Cataract, Preaxial hand poly... |
ORPHA:857 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Sacral dimple, Cataract, Postaxial polydactyly, Tapered finger, Small hand, Hip dis... |
OMIM:300968 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Microcephaly, Optic atrop... |
OMIM:617913 |
Branchio-Oculo-Facial Syndrome |
|
Cataract, Preaxial hand polydactyly, Premature graying of hair, Coloboma, Microcornea, Fingernail... |
ORPHA:1297 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Areflexia of upper limbs, Myelopathy, Cranial nerve compression, Abnormality of the v... |
ORPHA:268882 |
Shashi-Pena Syndrome |
|
Short metacarpal, Highly arched eyebrow, Accelerated skeletal maturation, Kyphosis, Synophrys, Os... |
OMIM:617190 |
Kinsship Syndrome |
|
Osteopenia, Sacral dimple, Single transverse palmar crease, Coxa valga, Short neck, Microcephaly,... |
OMIM:619297 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... |
OMIM:619879 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Congenital hip dislocation, Short neck, Accelerated skeletal maturation, Ver... |
ORPHA:373 |
1P36 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Agenesis of corpus callosum, Generalized hirsutism, Dilated cardi... |
ORPHA:1606 |
Mend Syndrome |
|
Sacral dimple, Cataract, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Long... |
ORPHA:401973 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Hemivertebrae, Hand monodactyly, Coloboma, Holopro... |
OMIM:214800 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Keratoconus, Congenital hip dislocation, Red hair, Keratoglobus, Abnormal cornea mo... |
OMIM:229200 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... |
ORPHA:3103 |
Peters Plus Syndrome |
|
Micromelia, Short neck, Microcornea, Clinodactyly of the 5th finger, Spina bifida occulta, Iris c... |
ORPHA:709 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Cataract, Optic atrophy, Cerebral atrophy, Head tremor |
ORPHA:314404 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Microcephaly, Talipes equinovarus, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermob... |
OMIM:617333 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Kabuki Syndrome |
|
Highly arched eyebrow, Microcephaly, Hydrocephalus, Vertebral clefting, Small hand, Hip dislocati... |
ORPHA:2322 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Squared iliac bones, Preaxial p... |
OMIM:616300 |
Doors Syndrome |
|
Abnormal finger morphology, Low anterior hairline, Hemivertebrae, Absent fingernail, Triphalangea... |
ORPHA:79500 |
Helsmoortel-Van Der Aa Syndrome |
|
Short 4th toe, Clinodactyly of the 5th finger, Prominent fingertip pads, Joint laxity, Broad hall... |
OMIM:615873 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Agenesis of corpus callosum, Iris coloboma, Dandy-Walker mal... |
OMIM:249000 |
Legius Syndrome |
|
Inguinal freckling, Cataract, Dystonia, Paroxysmal atrial tachycardia, Axillary freckling, Neurof... |
ORPHA:137605 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Decreased nerve conduct... |
ORPHA:167 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Broad metacarpals, Short metacarpal, Lumbar hyperlordosis, Delayed skeletal mat... |
OMIM:608328 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Hip dysplasia, Vertebral segmentatio... |
ORPHA:531151 |
Warburg-Cinotti Syndrome |
|
Retinal dystrophy, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic... |
OMIM:618175 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Microcephaly, Fused cervical vertebrae, Abnormal hip bone mo... |
ORPHA:2522 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Anterio... |
ORPHA:91500 |
Prader-Willi Syndrome |
|
Osteopenia, Short palm, Hypopigmentation of the skin, Iris hypopigmentation, Syndactyly, Acromicr... |
OMIM:176270 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
Caudal Regression Syndrome |
|
Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic ve... |
ORPHA:3027 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ce... |
OMIM:277170 |
Degcags Syndrome |
|
Osteopenia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying... |
OMIM:619488 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Cataract, Myocardial infarction,... |
ORPHA:117 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Microcephaly, Reticulated skin pig... |
OMIM:305000 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Choroidal neovascularization, Failure to thrive in infancy, Osteomalacia... |
ORPHA:51608 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hydrocephalus, Hypopigmented ... |
ORPHA:53271 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Highly arched eyebrow, Tremor, C... |
ORPHA:2754 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh... |
OMIM:172800 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal curvature of the vertebral column, Coloboma, Abnormality of the cervical spine, Joint la... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal curvature of the vertebral column, Coloboma, Abnormality of the cervical spine, Joint la... |
ORPHA:353277 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Depigmentation/hyperpi... |
ORPHA:1724 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia, Aprosencephaly, Talipes equinovarus, Craniosynostosis |
OMIM:601374 |
Au-Kline Syndrome |
|
Prominent metopic ridge, Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Postaxial polyd... |
OMIM:616580 |
Miller-Dieker Lissencephaly Syndrome |
|
Failure to thrive, Sacral dimple, Cataract, Single transverse palmar crease, Microcephaly, Deep p... |
OMIM:247200 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Low posterior hairline, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebra... |
OMIM:118100 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Craniosynostosis, Microcephaly, Coloboma, Hip dysplasia, Ver... |
ORPHA:453499 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Abnor... |
ORPHA:3472 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microcephaly, Coloboma, Holoprosencephaly, Microphthalmia, Cyclopia |
OMIM:147250 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Kyphoscoliosis, B... |
ORPHA:97360 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Tetraphocomelia, Knee flexion contracture, Coloboma, Sparse hair, Phocomelia, Wrist f... |
OMIM:268300 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Synophrys, Failure to thrive, Postaxial polydactyly |
OMIM:615824 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Patchy reduction of bone mineral density... |
ORPHA:221120 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Hypopigmentation of hair, Tremor, Cessation of head growth, Obe... |
ORPHA:98794 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Orthostatic hypotension, Cataract, Small for gestational age, Developmental ca... |
OMIM:606721 |
Orofaciodigital Syndrome I |
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Syndactyly, Dry hair, Alopecia, Microcephaly, Myelomeningocele, Hydrocephalus, Cerebral atrophy, ... |
OMIM:311200 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae, Agenesis of corpus callosum |
ORPHA:238722 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypoplastic toenails, Synophrys, Abnormal toenail morphology, Abnormal vertebral morphology, Abno... |
ORPHA:444077 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
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Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
Frontometaphyseal Dysplasia 2 |
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Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Thick... |
OMIM:617137 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem... |
ORPHA:480880 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Overlapping toe, Iris hypopigmentation, Short neck, Microcephaly, Small... |
ORPHA:177907 |
Endocrine-Cerebroosteodysplasia |
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Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Cerebellar vermis hypoplasia, Abnormal pupil morphology, Calcaneovalgus deformity, Flexion contra... |
ORPHA:261552 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Myelomen... |
ORPHA:3440 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Microcephaly, Spina bifida occulta, Low posterior hairline, Fused cervical vertebrae, Cafe-au-lai... |
OMIM:619227 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Widow's peak, Hyperext... |
OMIM:227330 |
Orofaciodigital Syndrome Iv |
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Toe syndactyly, Postaxial polydactyly, Cerebral atrophy, Hand polydactyly, Foot polydactyly, Shor... |
OMIM:258860 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femor... |
OMIM:304120 |
Sifrim-Hitz-Weiss Syndrome |
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Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Astigmatism, Short femoral neck, ... |
OMIM:617159 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Flexion contracture, Agenesis of corpus c... |
ORPHA:261537 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Postaxial polydactyly, Short neck, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplas... |
OMIM:617925 |
Neu-Laxova Syndrome 1 |
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Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Pterygium, Agenesis of corpus c... |
OMIM:256520 |
Yunis-Varon Syndrome |
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Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Anteri... |
OMIM:216340 |
Renpenning Syndrome 1 |
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Brittle hair, Cataract, Microcephaly, Cerebral atrophy, Coloboma, Sparse hair, Scoliosis, Camptod... |
OMIM:309500 |
Mullegama-Klein-Martinez Syndrome |
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Facial palsy, Curly eyelashes, Microcephaly, Low anterior hairline, Polydactyly, Scoliosis, Clino... |
OMIM:301022 |
Cranioectodermal Dysplasia 3 |
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Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, Sagi... |
OMIM:614099 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
Congenital Ptosis |
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Congenital Horner syndrome, Prominent metopic ridge, Congenital facial diplegia, Piebaldism, Asti... |
ORPHA:91411 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi... |
ORPHA:98754 |
Carpenter Syndrome 2 |
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Single transverse palmar crease, Short neck, Preaxial polydactyly, Low anterior hairline, Coxa va... |
OMIM:614976 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi... |
ORPHA:177901 |
Alzahrani-Kuwahara Syndrome |
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Optic disc pallor, Cataract, Microcephaly, Astigmatism, Hyperpigmentation of the skin |
OMIM:619268 |
Mowat-Wilson Syndrome |
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Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Flexion contracture, Agenesis of corpus c... |
ORPHA:2152 |
Cranioectodermal Dysplasia 2 |
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Joint laxity, Syndactyly, Rhizomelia, Sparse eyelashes, Craniosynostosis, Short neck, Sparse eyeb... |
OMIM:613610 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Hypoplastic toenails, Aqueduc... |
OMIM:306955 |
Pallister-Hall Syndrome |
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Large for gestational age, Hemivertebrae, Holoprosencephaly, Mesoaxial polydactyly, Radial bowing... |
ORPHA:672 |
Cardioacrofacial Dysplasia 1 |
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Limb undergrowth, Nail dysplasia, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Short humerus, Short femur, Microcephaly, Flexion contracture, Cerebral atrophy, Choreoathetosis,... |
ORPHA:17 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Short... |
OMIM:613458 |
Albinism-Deafness Syndrome |
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Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Mowat-Wilson Syndrome |
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Cataract, Aganglionic megacolon, Supernumerary nipple, Microcephaly, Microcornea, Ectopia pupilla... |
OMIM:235730 |
Alkaptonuria |
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Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Prominent metopic ridge, Polydactyly, Sparse lateral eyebrow |
ORPHA:314655 |
3Mc Syndrome 3 |
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Sacral dimple, Corneal opacity, Highly arched eyebrow, Preaxial polydactyly, Radioulnar synostosi... |
OMIM:248340 |
Carney Complex, Type 1 |
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Congestive heart failure, Schwannoma, Multiple lentigines, Pheochromocytoma, Red hair, Freckling,... |
OMIM:160980 |
Okamoto Syndrome |
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Prominent metopic ridge, Abnormally large globe, Microcephaly, Extension of hair growth on temple... |
ORPHA:2729 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Albinism-Deafness Syndrome |
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Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Menkes Disease |
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Gastrointestinal hemorrhage, Bowing of the long bones, Hypopigmentation of hair, Wormian bones, T... |
ORPHA:565 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Osteopenia, Aqueductal stenosis, Coloboma, Knee dislocation, Neonatal death, Syndactyly, Tricuspi... |
OMIM:619534 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Osteopenia, Osteomyelitis, Failure to thrive in infancy, Osteolysis, Fused cervical vertebrae, Jo... |
OMIM:612852 |
Cardiospondylocarpofacial Syndrome |
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Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Short foot, ... |
OMIM:157800 |
Faciocardiomelic Syndrome |
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Osteopenia, Dysharmonic bone age, Large for gestational age, Microcephaly, Cuboid-shaped vertebra... |
OMIM:612731 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Diffuse cerebral atrophy, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micro... |
ORPHA:83617 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Preaxial polydactyly, Obesity, Abnormal neuron morphology |
ORPHA:163681 |
Thakker-Donnai Syndrome |
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Communicating hydrocephalus, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Agenesis... |
ORPHA:1780 |
Conotruncal Heart Malformations |
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Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Vater/Vacterl Association |
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Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Alström Syndrome |
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Thoracic scoliosis, Accelerated skeletal maturation, Portal hypertension, Drusen, Short toe, Dila... |
ORPHA:64 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Widow's peak, Shor... |
ORPHA:1974 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia, Coloboma, Synophrys, Cataract |
OMIM:603457 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin ... |
ORPHA:163746 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Choanal Atresia |
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Tracheomalacia, Polydactyly, Craniosynostosis |
ORPHA:137914 |
Pmm2-Cdg |
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Osteopenia, Joint laxity, Failure to thrive, Multiple joint contractures, Angina pectoris, Perica... |
ORPHA:79318 |
Loeys-Dietz Syndrome 2 |
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Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos... |
OMIM:610168 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Anophthalmia, Block vertebrae, Partial duplication of thumb phalanx, Hyd... |
OMIM:164210 |
Ventriculomegaly With Cystic Kidney Disease |
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Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Lacrimoauriculodentodigital Syndrome 1 |
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Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Culler-Jones Syndrome |
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Postaxial polydactyly |
OMIM:615849 |