Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a... |
ORPHA:93323 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Cataract, Chorioretinal coloboma, Cryptorchidism |
OMIM:274205 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph... |
ORPHA:79106 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Hammertoe, Optic atrophy |
OMIM:618511 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystro... |
OMIM:615995 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregul... |
OMIM:602271 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi... |
OMIM:615297 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ... |
OMIM:204200 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Short tibia, Humeroradial synostosis, A... |
OMIM:251230 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Microphthalmia, Rocker bottom foot, Micrognathia |
OMIM:616570 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... |
ORPHA:1473 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Congenital hepatic fibrosis, Ch... |
ORPHA:3156 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Morm Syndrome |
|
Micropenis, Retinal atrophy, Retinal dystrophy, Cataract |
ORPHA:75858 |
Slc35A2-Cdg |
|
Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,... |
ORPHA:356961 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... |
OMIM:300863 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency, Optic atrophy |
ORPHA:83472 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, H... |
OMIM:204000 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short metacarpal, Cataract, Short thumb, Cryptorchidism, Chorioretinal coloboma |
ORPHA:2489 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchid... |
OMIM:613730 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Caffey Disease |
|
Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal bon... |
OMIM:114000 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... |
OMIM:620076 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract, Vaginal hernia, Hypertrophic cardiomyopathy, Broad thumb |
ORPHA:3173 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb |
ORPHA:3434 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy |
OMIM:616171 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Optic atrophy |
OMIM:611721 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Axial Spondylometaphyseal Dysplasia |
|
Proximal femoral metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Proximal femo... |
ORPHA:168549 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... |
OMIM:601559 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Abnormal epiphys... |
ORPHA:93267 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia... |
OMIM:166740 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Optic atrophy, Diaphyseal thickening |
ORPHA:1513 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... |
OMIM:616108 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened e... |
ORPHA:1856 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor, Left ventricular hypertrophy |
OMIM:618632 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... |
ORPHA:791 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia |
ORPHA:291 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Renal insufficiency... |
OMIM:615986 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy |
OMIM:183800 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly |
OMIM:610023 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract, Retinal dystrophy |
OMIM:610156 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis,... |
OMIM:249270 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Short tibia, Squared iliac bones, Preaxial ... |
OMIM:616300 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Optic atrophy, Short distal phalanx of finger |
ORPHA:2787 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Crumpled long bones, Metaphyseal widening, Osteoporosis, Abnormal femoral neck/head m... |
ORPHA:2788 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Sho... |
OMIM:132450 |
Temtamy Syndrome |
|
Pes planus, Brachydactyly, Micrognathia, Short toe, Clinodactyly of the 5th finger, Microphthalmi... |
ORPHA:1777 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, P... |
OMIM:206920 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal... |
OMIM:607143 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Clinodactyly, Optic atrophy |
OMIM:300928 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Ventricular septal ... |
ORPHA:290 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Rocker bottom foot, Abnormal retinal morphology, Atrial septal defect, Hypoplastic spleen, Patent... |
ORPHA:89844 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Micrognathia, Coxa valga, Flat acetabular roof, Flattened epiphys... |
ORPHA:163649 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Sclerosteosis |
|
Finger syndactyly, Facial palsy, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of... |
ORPHA:3152 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Thickened ribs, Optic atrophy, Diaphyseal sclerosis, Facial diplegia |
OMIM:122860 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Retinal coloboma, Hypogonadism, Rod-cone d... |
ORPHA:363741 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Epiphyseal dysplasia, Cataract, Genu valgum, Vitreoretinopathy, Astigmatism, ... |
ORPHA:250984 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Achondrogenesis Type 2 |
|
Retinal detachment, Cataract, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification,... |
ORPHA:93296 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Cataract, Retinal... |
ORPHA:166011 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Trisomy 13 |
|
Cataract, Ventricular septal defect, Abnormal retinal vascular morphology, Cryptorchidism, Postax... |
ORPHA:3378 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Pierpont Syndrome |
|
Short toe, Short foot, Deep plantar creases, Broad foot, Short palm, Prominent fingertip pads, Mi... |
OMIM:602342 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Poorly ossified vertebrae, Shortening of all ... |
OMIM:619135 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Talipes calcaneovalgus |
OMIM:600251 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Calcium oxalate nephrolithiasis, Astigmatism, Optic atrophy, Genu valgum |
OMIM:248000 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Hypoplastic spleen, Thin ribs, Slender long bone, Aniridia, Micropen... |
OMIM:602361 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:600081 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Craniosynostosis |
ORPHA:1528 |
Hartsfield Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis |
ORPHA:2117 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Mitral valve prolapse, Abnormal... |
ORPHA:90653 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro... |
OMIM:222300 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Pes cavus |
OMIM:278780 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia, Iris coloboma, Abnormal heart morphology |
ORPHA:2185 |
Infantile Refsum Disease |
|
Hepatomegaly, Cataract, Facial palsy, Optic atrophy, Cardiomyopathy, Abnormal epiphysis morpholog... |
ORPHA:772 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Renal insufficiency, Cryptorchidism, Congenital... |
ORPHA:2377 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Osteoporosis, Camptodactyly of finger, Micrognathia |
ORPHA:48431 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... |
ORPHA:1553 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism, Genu ... |
ORPHA:1381 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte... |
OMIM:249660 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Microphthalmia, Osteoporosis, Micrognathia |
OMIM:600118 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pubic bone, F... |
OMIM:617925 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, F... |
OMIM:609033 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Microcornea, Atri... |
OMIM:201000 |
Pierpont Syndrome |
|
Pes planus, Short toe, Abnormality of the plantar skin of foot, Short finger, Prominent fingertip... |
ORPHA:487825 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone dystrophy |
OMIM:601794 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ... |
ORPHA:496790 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Hepatomegaly, Abnormal thumb morphology, Optic atrophy, Small ha... |
ORPHA:1597 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... |
ORPHA:163966 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Moebius Syndrome |
|
Syndactyly, Pes planus, Brachydactyly, Micrognathia, Clinodactyly, Split hand, Abnormal pelvic gi... |
OMIM:157900 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... |
ORPHA:171844 |
Cofs Syndrome |
|
Microphthalmia, Camptodactyly of finger, Talipes, Micrognathia |
ORPHA:1466 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Metatarsus adductus, C... |
OMIM:214110 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro... |
OMIM:256550 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea... |
OMIM:300554 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Camptodactyly of finger, Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia |
ORPHA:272 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
Sarcosinemia |
|
Hypersarcosinuria, Hypertrophic cardiomyopathy, Optic atrophy, Pulmonic stenosis |
ORPHA:3129 |
Marinesco-Sjögren Syndrome |
|
Short palm, Cataract, External genital hypoplasia, Coxa valga, Avascular necrosis of the capital ... |
ORPHA:559 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Lissencephaly 8 |
|
Talipes equinovarus, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Attenuation of retinal blood vessels, Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Sh... |
OMIM:614376 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy, Cataract |
OMIM:614284 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... |
OMIM:221900 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity |
OMIM:252650 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Missing ribs, Cryptorchidism, Opti... |
ORPHA:3301 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:612989 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Micrognathia |
OMIM:615524 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Harel-Yoon Syndrome |
|
Peripheral axonal neuropathy, Corneal opacity, Optic atrophy, Developmental cataract, Hip dysplas... |
OMIM:617183 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618236 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Calf muscle hypertrophy, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613155 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Macular atrophy, Situs inversus totalis, Posterior subcapsular cataract, Rod-c... |
OMIM:615434 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Optic atrophy, Cardiomyopathy,... |
ORPHA:79312 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervou... |
OMIM:598500 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of the proximal ... |
ORPHA:363417 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Cryptorchidism, Microvesicular hepatic steatosis, Dila... |
OMIM:610198 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Cataract, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, 3-Methylglutacon... |
ORPHA:254913 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Diencephalic Syndrome |
|
Long penis, Optic atrophy |
ORPHA:1672 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Absent thumb, Short thumb, Cryptorc... |
OMIM:617516 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Micrognathia, Coxa valga, Osteoporosis, Knee flexion contracture, Second meta... |
OMIM:214150 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius |
ORPHA:3469 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia |
OMIM:615085 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Vesico... |
ORPHA:959 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Broad hallux phalanx, Cataract, Corneal opacity, Hepatomegal... |
ORPHA:585 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Renal hypoplasia, Horseshoe k... |
OMIM:601186 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morpholo... |
ORPHA:7 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem... |
OMIM:611490 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas... |
OMIM:169550 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Sho... |
OMIM:241410 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cataract, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Rod-c... |
OMIM:266500 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Developmental ca... |
ORPHA:93400 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, ... |
ORPHA:228346 |
Optic Atrophy 8 |
|
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Mi... |
OMIM:616648 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Optic atrophy, Abnormal heart morphology,... |
ORPHA:494344 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... |
OMIM:274000 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Atrial septal defect, Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, ... |
OMIM:619471 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Retinal dystrophy, Sclerocornea, Proximal placement of thumb, Crypto... |
ORPHA:139471 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:615181 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Atrial septal ... |
ORPHA:49827 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloi... |
OMIM:609049 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proximal renal tubular aci... |
OMIM:146255 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Micrognathia, Knee flexion contracture, Camptodactyly, Microphthalmia |
OMIM:619694 |
Warburg Micro Syndrome 2 |
|
Cataract, Overlapping toe, Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, ... |
OMIM:614225 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Abnormal chorioretinal morphology, Corneal ... |
ORPHA:912 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Hepatic fibrosis, M... |
OMIM:209900 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... |
OMIM:619260 |
Stt3B-Cdg |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
ORPHA:370924 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hyp... |
OMIM:603671 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Ami... |
ORPHA:414 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Abnormal heart morphology, Hepatosplenome... |
ORPHA:93399 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liv... |
ORPHA:247691 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Renal insufficiency, Splenomegal... |
ORPHA:773 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
OMIM:615597 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... |
OMIM:300578 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... |
OMIM:268315 |
Distal Deletion 13Q |
|
Aplasia/Hypoplasia of the thumb, Optic atrophy, Abnormal cardiac septum morphology, Abnormal meta... |
ORPHA:1590 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Abnormality of the liver, Cataract, Optic atrophy |
ORPHA:44 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... |
ORPHA:3035 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Flexion contractur... |
ORPHA:2712 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Abnormal peripheral myelination, Testicul... |
ORPHA:168563 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Short tibia... |
ORPHA:96334 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Hypoplastic frontal sinuses, Radial deviation of finger, Camptodactyl... |
OMIM:136760 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat... |
OMIM:612674 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Micrognathia, Osteopetrosis, Clinodactyly of the 5th finger, Micr... |
OMIM:617306 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Absent distal phalanges, Microphthalmia |
OMIM:619339 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Micro... |
ORPHA:2547 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Cardiomyop... |
ORPHA:27 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Microphthalmia, Anophthalmia |
OMIM:164180 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Kapur-Toriello Syndrome |
|
Cataract, Ventricular septal defect, Camptodactyly of finger, Short thumb, Cryptorchidism, Hypopl... |
OMIM:244300 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Tapered finger, Micrognathia, Hypocalcemia, Microphthalmia |
ORPHA:1438 |
Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dystrophy |
ORPHA:324737 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Intermediate Uveitis |
|
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... |
ORPHA:279914 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co... |
ORPHA:899 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Microphthalmia, Syndromic 5 |
|
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Coloboma, Micro... |
OMIM:610125 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Polydactyly, Syndactyly |
OMIM:602501 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Hypogonadism, ... |
ORPHA:1173 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Polydactyly, Talipes equinovarus |
OMIM:613885 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Cardiomyopathy, Abnormal retinal nerve fiber ... |
ORPHA:1215 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Warburg Micro Syndrome 3 |
|
Cataract, Small scrotum, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco... |
OMIM:614222 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Split foot |
OMIM:601349 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Optic atrophy, Renal tubular dysfunction, Ne... |
ORPHA:289916 |
Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly |
OMIM:611561 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Ventricular septal defect, Proteinuria, Non-acid... |
OMIM:222448 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Bowing of the legs, Delayed epiphysea... |
OMIM:300009 |
Wildervanck Syndrome |
|
Lens subluxation, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Optic atrophy, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly |
ORPHA:1914 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
Coach Syndrome 1 |
|
Optic disc pallor, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Po... |
OMIM:216360 |
Spondylo-Ocular Syndrome |
|
Pes planus, Microphthalmia, Aplasia/Hypoplasia of the lens, Osteoporosis |
ORPHA:85194 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Hypoplasia of the uterus, Azo... |
OMIM:601076 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... |
ORPHA:2510 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased testicular size, Broad hallux, Overlapping toe, Hypogonadotropic hypogonadism, Microcyt... |
ORPHA:293967 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure... |
OMIM:607323 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cataract, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrophy, Cardiomyopathy, Elevated ... |
OMIM:620089 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Osteolysis in... |
ORPHA:371428 |
Martsolf Syndrome 1 |
|
Pes planus, Short metacarpal, Micrognathia, Metatarsus adductus, Slender ulna, Short toe, Osteopa... |
OMIM:212720 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Coloboma, Abnormal optic disc morphology, Short palm, Clinodactyly of the ... |
ORPHA:508498 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Satoyoshi Syndrome |
|
Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ... |
ORPHA:3130 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Hydroureter, Cryptorchidism, O... |
ORPHA:568 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Ureteral atresia, Cardiomyopathy, R... |
ORPHA:1493 |
Woods Syndrome |
|
3-4 finger cutaneous syndactyly, Ventricular septal defect, Optic atrophy |
OMIM:615236 |
Mucopolysaccharidosis-Plus Syndrome |
|
Metaphyseal widening, Leukopenia, Chorioretinal hypopigmentation, Macrovesicular hepatic steatosi... |
OMIM:617303 |
Meckel Syndrome |
|
Ureteral duplication, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Accessory spleen, Mu... |
ORPHA:564 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Pre... |
OMIM:243605 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Situs inversus totalis, Abnormality of the spleen, Abnormal rib mor... |
ORPHA:991 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Bilateral microphthalmos, Flared metap... |
OMIM:610758 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... |
ORPHA:2714 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Hypoalbuminemia |
OMIM:618805 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Temtamy Syndrome |
|
Pes planus, Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Br... |
OMIM:218340 |
Kniest Dysplasia |
|
Retinal detachment, Enlarged epiphyses, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of ... |
ORPHA:485 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Postaxial polydactyly, Unilateral renal ag... |
OMIM:614576 |
Mirage Syndrome |
|
Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadism, Radial club hand, Cryptorchidism... |
OMIM:617053 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Hypospadias, Ovotestis, Hypo... |
OMIM:309801 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Toe syndactyly, Finger syndactyly |
ORPHA:261272 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Micr... |
OMIM:127000 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Sandal gap, Proteinuria, Abno... |
ORPHA:2715 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria |
ORPHA:309288 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Micrognathia |
OMIM:610756 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Facial palsy, Optic atrophy, Genu valgum, Abnormal epiphysis morph... |
ORPHA:53 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Radial dysplasia, Absent thumb |
OMIM:617244 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly |
OMIM:619981 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Dislocation of the femoral head, Hypoplastic ischia, Micrognath... |
OMIM:260660 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epip... |
OMIM:302960 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Sandal gap |
OMIM:300887 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Abnormal circulating lipid concentration, Synostosis of carpal bones, Micrognathia |
ORPHA:3191 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-cone dystrophy |
OMIM:616562 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Lower limb asymmetry, Neonatal epiphyseal stippling, Hip dislocati... |
ORPHA:35173 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys, Abnormal heart ... |
ORPHA:2237 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Micrognathia, Congeni... |
ORPHA:435638 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Joint contracture of the 4th finger,... |
OMIM:618914 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Vaginal at... |
OMIM:617914 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Polycy... |
ORPHA:2969 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... |
ORPHA:699 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Fluctuating hepatomegaly, Fluctuating... |
OMIM:610377 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Micrognathia |
OMIM:606744 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Optic atrophy, Short metatarsa... |
OMIM:605282 |
Aica-Ribosuria Due To Atic Deficiency |
|
Fused labia minora, Secundum atrial septal defect, Optic atrophy, Elevated urinary 5-amino-4-imid... |
OMIM:608688 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Bru... |
OMIM:614866 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Split... |
ORPHA:579 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Bowing of the long bones, Optic atrophy, Coarse metaphyseal ... |
ORPHA:2801 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Neurogenic bladder, Optic atrophy |
OMIM:618248 |
Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Femur fracture, Facial palsy, Thrombocytopenia, Splenomegaly, Optic a... |
OMIM:259700 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Knobloch Syndrome |
|
Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Abnormal vitreous humor morphology, M... |
ORPHA:1571 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Absent distal phalanges, Short middle phalanx of finger, Micrognathia |
OMIM:614219 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Microcornea, Atrial septal defect, Contracture of the proximal inte... |
OMIM:300166 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Ventricular septal defect, Optic nerve hypoplasia, Sclerocornea, M... |
OMIM:206900 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, 2-3 finger syndac... |
OMIM:601707 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Missing ribs, Cryptorchidism, Optic atrophy, Microcornea,... |
OMIM:147791 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Thrombocytopenia, Supravalvar pulmonary stenosis, Develo... |
OMIM:620185 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... |
OMIM:619879 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Brachydactyly, Broad thumb, Micrognathia |
OMIM:614526 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Hyperextensibility of the knee, Micrognathia, Osteoporosis, Palmoplantar hyperkera... |
OMIM:601812 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Ectopic kidney, Renal cyst, Microcornea, Clinodactyly of the 5th fin... |
OMIM:122470 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe |
OMIM:615249 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... |
OMIM:616959 |
Roifman-Chitayat Syndrome |
|
Short metacarpal, Ectopic kidney, Optic atrophy, Short metatarsal, Cone-shaped epiphysis |
OMIM:613328 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Microphthalmia, Broad hallux |
OMIM:614105 |
Chops Syndrome |
|
Cataract, Ventricular septal defect, Cryptorchidism, Splenomegaly, Optic atrophy, Anomalous pulmo... |
OMIM:616368 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Clinodactyly, Rocker bottom foot, Camptodactyly |
OMIM:618804 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A... |
OMIM:118450 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Short foot, Broad proximal phalanges of the hand, Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,... |
ORPHA:1328 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Chorioretinal colo... |
ORPHA:857 |
Mosaic Trisomy 1 |
|
Microretrognathia, Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Campt... |
ORPHA:1692 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor... |
OMIM:609053 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Hydrolethalus |
|
Anophthalmia, Micromelia, Micrognathia, Postaxial hand polydactyly, Microphthalmia |
ORPHA:2189 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Broad hallux, Sandal gap, Optic atrophy, Ectopia pupillae, Astigmatism, Clinodactyly, 3... |
OMIM:618727 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, Bone marrow hypoc... |
OMIM:619151 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,... |
ORPHA:974 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Renal insufficiency, Proteinuria, Hepatomegaly, Portal hypertensi... |
OMIM:619487 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Lower limb asymmetry, Micrognathia, 2-3 toe syndactyly, Postaxial foot pol... |
ORPHA:404440 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Aniridia, Microphthalmia, Camptodactyly of toe |
ORPHA:251038 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Optic atrophy, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, C... |
OMIM:601539 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar... |
ORPHA:436271 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Splenomegaly, Optic atrophy, Renal hy... |
OMIM:617913 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Chorioretinal coloboma, Triphalangeal thumb, Atrial septal defec... |
OMIM:107480 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated uri... |
ORPHA:892 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricu... |
OMIM:619167 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cataract, Female hypogonadism, Chronic active hepatitis, Asplenia, Keratoconjunctivitis, Nephroca... |
OMIM:240300 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping fingers, Overlapping toe, Hip dysplasia, Prominent fingertip pads, Microphthalmia |
OMIM:618494 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po... |
ORPHA:280921 |
Bresek Syndrome |
|
Microphthalmia, Postaxial hand polydactyly, Optic nerve hypoplasia |
ORPHA:85284 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Bifid scrotum, Small scrotum, Retinal dystrophy, Tapered finger... |
ORPHA:324540 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Cockayne Syndrome Type 3 |
|
Microcornea, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atrophy, Renal hypoplasia, ... |
ORPHA:90324 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Urethral atresia, Aplasia of the ... |
OMIM:271520 |
Meckel Syndrome 12 |
|
Rocker bottom foot, Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of t... |
OMIM:616258 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognathia, 4-5 finger syndactyly, ... |
OMIM:257850 |
Dysosteosclerosis |
|
Ventricular septal defect, Optic atrophy, Abnormal cranial nerve morphology, Abnormal metaphysis ... |
ORPHA:1782 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Retinal... |
OMIM:253800 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy |
OMIM:535000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Cryptorch... |
OMIM:236670 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Monosomy 18P |
|
Microphthalmia, Brachydactyly, Micrognathia |
ORPHA:1598 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia |
OMIM:185070 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, P... |
ORPHA:217085 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Retinal degeneration, Hepatomegaly, Abnormal rib morphology, Rod-cone ... |
ORPHA:581 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Muscular ventric... |
ORPHA:66634 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Transient neutropenia, Chronic... |
ORPHA:500095 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Optic atro... |
OMIM:220110 |
Joubert Syndrome 37 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:619185 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Hip dyspl... |
ORPHA:457284 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Brachydactyly, Abnormal acetabulum morphology, Retinal dystrophy, Hypospadias, Postaxial polydact... |
ORPHA:397715 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... |
OMIM:208500 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, P... |
ORPHA:217093 |
Momo Syndrome |
|
Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Abnormal bone ossification,... |
ORPHA:2563 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Thromb... |
OMIM:259720 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Hypospadias, Optic atrophy, Hypoplastic pubic bone, Cone-shaped epiphyses of the... |
OMIM:210730 |
Dysosteosclerosis |
|
Optic atrophy, Abnormal metaphyseal trabeculation, Flared metaphysis, Narrow iliac wing, Short st... |
OMIM:224300 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Opt... |
ORPHA:79330 |
Spondyloocular Syndrome |
|
Long toe, Retinal detachment, Cataract, Arachnodactyly, Femur fracture, Overlapping toe, Unilater... |
OMIM:605822 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... |
OMIM:236680 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Multicystic kidney dysplasia, Unilateral renal agenesis, Long fingers, Cryptorchidism, ... |
OMIM:614527 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Coronal craniosynostosis |
ORPHA:228390 |
Cockayne Syndrome A |
|
Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Square pelvis bone... |
OMIM:216400 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Hip dysplasia, Camptodactyly |
OMIM:611961 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Corneal opacity, Ventricular septal defect, Hypospadias, T... |
ORPHA:464311 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Unilateral renal agenesis, Bifid distal phalanx of the thumb, Hypoplasia of the... |
OMIM:618419 |
Oeis Complex |
|
11 pairs of ribs, Congenital hip dislocation, Hydroureter, Bifid uterus, Epispadias, Cryptorchidi... |
OMIM:258040 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly |
ORPHA:1942 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Hypogonadism |
OMIM:610651 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Marden-Walker Syndrome |
|
Arachnodactyly, Micrognathia, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Micropht... |
OMIM:248700 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bowing of the long bones, Postaxial hand polydactyly |
OMIM:611134 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Cortical thickening... |
ORPHA:93325 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Missing ribs, Precocious puberty, Optic ... |
ORPHA:50 |
Phace Association |
|
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental ... |
OMIM:606519 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:616538 |
Satoyoshi Syndrome |
|
Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... |
OMIM:600705 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Corneal opacity, Abnormal heart v... |
ORPHA:580 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Lower limb asymmetry, Split hand, Hyp... |
ORPHA:2092 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat... |
OMIM:267750 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Hypoplasia of the uterus, Hip dysplasia, Clinodactyly of the 5th fing... |
OMIM:614851 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcornea, Colobom... |
OMIM:615877 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, Talipes equinovarus, Foot pol... |
ORPHA:250989 |
Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial polydactyly, Crypt... |
ORPHA:2886 |
Cockayne Syndrome |
|
Urinary incontinence, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepatom... |
ORPHA:191 |
Joubert Syndrome 8 |
|
Optic disc pallor, Prolonged neonatal jaundice, Pigmentary retinopathy, Hepatomegaly |
OMIM:612291 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Duplication of phalanx of hallux |
OMIM:243310 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Aplasia of the ulna, Cryptorchidism... |
ORPHA:2879 |
Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... |
OMIM:613154 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... |
ORPHA:83628 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... |
ORPHA:1606 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Abnormal heart valve morphology, Arachno... |
ORPHA:280 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis... |
OMIM:618775 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Micrognathia, Tapered finger, Slender toe, Genu va... |
ORPHA:193 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Optic neuropathy, Optic atrophy, Broad ischia, ... |
OMIM:619727 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Multiple rib fractures, Femur fracture, Splenomegaly, Optic atrophy, Optic nerve co... |
OMIM:612301 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Sclerocornea, Proximal placement of thumb, Atrial septal defect, Atrioventri... |
ORPHA:818 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L... |
OMIM:260920 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Tapered finger, Micrognathia, Short thumb, Cutaneous syndactyly, Talipes equinov... |
OMIM:619148 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormal foot morphology, Bilateral microphthalmos, Camptodactyly, Clinodactyly |
ORPHA:369891 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Wolf-Hirschhorn Syndrome |
|
Atrial septal defect, Iris coloboma, Accessory spleen, Pseudoepiphyses of the metacarpals, Hyposp... |
OMIM:194190 |
Primary Hyperoxaluria |
|
Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol... |
ORPHA:416 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Increased ur... |
ORPHA:90793 |
Aicardi Syndrome |
|
Retinal detachment, Cataract, Proximal placement of thumb, Missing ribs, Precocious puberty, Chor... |
OMIM:304050 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Microphthalmia, Anophthalmia |
ORPHA:77298 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Hepatomegaly, ... |
ORPHA:394 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S... |
ORPHA:2538 |
Arima Syndrome |
|
Hepatomegaly, Retinal dystrophy, Proteinuria, Polyuria, Postaxial hand polydactyly, Optic atrophy... |
OMIM:243910 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Pes planus, 2-3 toe syndactyly, Joint contracture of the 5th finger, Prominent fingertip pads, Mi... |
OMIM:620098 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal peripheral myelination, Abnormal auditor... |
OMIM:133540 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Retinal vascular proliferati... |
OMIM:308300 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... |
ORPHA:168558 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Ureterocele,... |
OMIM:614863 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus... |
ORPHA:2729 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping fingers, Overlapping toe, Deviation of the 2nd finger, 2-3 toe syn... |
ORPHA:464738 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Optic neuropathy, Retinal cryst... |
OMIM:259900 |
Fabry Disease |
|
Conjunctival telangiectasia, Abnormal endocardium morphology, Renal insufficiency, Cataract, Corn... |
ORPHA:324 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... |
ORPHA:289548 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Micrognathia, Short thumb, Osteoporosis, Small hand, Short foot, Tali... |
OMIM:268400 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Syndactyly, Cataract, Sclerocornea, Vesicoureteral reflux, Double inlet left v... |
OMIM:619869 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Clubbing of fingers |
ORPHA:335 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Plantar pits, Irregular ossification of hand bones, Polydactyly, Short ri... |
OMIM:109400 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os... |
OMIM:309000 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Retinal hamartoma, Abnormality of the lymphatic system, Optic atrophy, Ch... |
ORPHA:538 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Metaphyseal widening, Phthisis bulbi, Osteoporosis, Tibial bowing, Microphthalmia |
OMIM:259770 |
Heart And Brain Malformation Syndrome |
|
Hand clenching, Microphthalmia, Camptodactyly of finger |
OMIM:616920 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Cataract, Remnants of the hyalo... |
OMIM:619539 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
3-4 finger cutaneous syndactyly, Microphthalmia, Sandal gap, Talipes equinovarus |
OMIM:612530 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Long fingers, Cryptorchidism, ... |
ORPHA:96121 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Micrognathia, Hip dislocation, Hypoalbuminemia, Camptodactyly, Microphthalmia |
OMIM:617729 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Retinal... |
ORPHA:42775 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Galloway-Mowat Syndrome 1 |
|
Micrognathia, Hypoplasia of the iris, Hypoalbuminemia, Talipes equinovarus, Camptodactyly, Hand c... |
OMIM:251300 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Blau Syndrome |
|
Pericarditis, Cataract, Facial palsy, Camptodactyly of finger, Abnormal retinal vascular morpholo... |
ORPHA:90340 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Crani... |
ORPHA:2785 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Hip dislocation, Finger cl... |
ORPHA:99776 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst... |
ORPHA:137675 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Metatarsus adductus, Talipes equinov... |
OMIM:272950 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Renal hypoplasia, Genu va... |
OMIM:619321 |
Oculodentodigital Dysplasia |
|
4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle phalanx... |
OMIM:164200 |
Peters Plus Syndrome |
|
Ureteral duplication, Bicuspid pulmonary valve, Microcornea, Clitoral hypoplasia, Clinodactyly of... |
ORPHA:709 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Micrognathia, Camptodactyly, Microphthalmia |
OMIM:614230 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia |
OMIM:603467 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... |
ORPHA:3186 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Small hand, Reduced bone mineral density, Short foot, Short ribs, Clinodactyly of t... |
ORPHA:2108 |
Frontorhiny |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, Microphthalmia, Brachy... |
ORPHA:391474 |
Joubert Syndrome 21 |
|
Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Short ribs, Retinopathy |
OMIM:615636 |
Charge Syndrome |
|
Bifid scrotum, Abnormal tibia morphology, Chorioretinal coloboma, Vesicoureteral reflux, Clinodac... |
ORPHA:138 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Micrognathia, Short thumb, Long thumb, Hip dysplasi... |
OMIM:300895 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Microphthalmia, Overlapping toe |
OMIM:618571 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Micrognathia |
ORPHA:1915 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Proximal placement of thumb... |
OMIM:261540 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Brachydactyly |
ORPHA:247768 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Bone marrow hypocellula... |
OMIM:614083 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract abnormality, Renal hypoplasia,... |
OMIM:137920 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:600901 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Mend Syndrome |
|
Overlapping fingers, Broad hallux, Overlapping toe, Micrognathia, Long fingers, Elevated 8-dehydr... |
ORPHA:401973 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia |
OMIM:619053 |
Joubert Syndrome 14 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:614424 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal metacarpal morphology, Microph... |
ORPHA:284160 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna... |
OMIM:263650 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral... |
OMIM:305600 |
Charge Syndrome |
|
External genital hypoplasia, Secundum atrial septal defect, Hand monodactyly, Coloboma, Atrial se... |
OMIM:214800 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Sterile pyuria, Tubulointerstitial nephritis, Am... |
ORPHA:91500 |
Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Osteolysis, Absent hand, De... |
ORPHA:464 |
Fanconi Anemia |
|
Pes planus, Finger syndactyly, Toe syndactyly, Hypoplasia of the ulna, Abnormal morphology of uln... |
ORPHA:84 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... |
ORPHA:322 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Ventricular septal defect, External genital hy... |
ORPHA:141099 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Anophthalmia, Micrognathia, Hypoplasia of the radius, Hip dislocation, Mic... |
ORPHA:3412 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Lower limb asymmetry, Micrognathia |
ORPHA:2505 |
Coffin-Siris Syndrome 1 |
|
Ectopic kidney, Prominent interphalangeal joints, Prominent fingertip pads, Clinodactyly of the 5... |
OMIM:135900 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227650 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Mic... |
OMIM:264480 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Broad distal phal... |
OMIM:218330 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, 2-3 toe syndactyly |
OMIM:616449 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:613150 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Clinodactyly of the 5th finger, Atrial septal defect, Pate... |
OMIM:607872 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long fingers, Microphthalmia, Micrognathia |
OMIM:156610 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Mitral valve calcification, Pancytopenia, Corneal opacity, Aortic val... |
ORPHA:2072 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Metaphyseal widening, Slender long bone, Decreased number of sternal ossification c... |
OMIM:234100 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Cryptorchidism, Thrombocyt... |
OMIM:305000 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Wolfram Syndrome 2 |
|
Neurogenic bladder, Optic atrophy, Optic neuropathy |
OMIM:604928 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Cataract, Ventricular septal defect, Hypospadias, Coronary sinus enlargement, ... |
OMIM:619268 |
Premature Ovarian Failure 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Fanconi Anemia, Complementation Group C |
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Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227645 |
Frontonasal Dysplasia 2 |
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Microphthalmia, Craniosynostosis |
OMIM:613451 |
Joubert Syndrome 2 |
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Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Abnormal foot morphology |
OMIM:608091 |
Microphthalmia, Isolated, With Coloboma 9 |
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Microphthalmia |
OMIM:615145 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus |
OMIM:617690 |
Roberts-Sc Phocomelia Syndrome |
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Tetraphocomelia, Coloboma, Atrial septal defect, Phocomelia, Accessory spleen, Syndactyly, Hypopl... |
OMIM:268300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus |
OMIM:617442 |
Fanconi Anemia, Complementation Group D2 |
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Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
Leptospirosis |
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Papilledema, Pericarditis, Hepatomegaly, Cellular urinary casts, Jaundice, Retinal hemorrhage, He... |
ORPHA:509 |
3Q29 Microdeletion Syndrome |
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Clinodactyly of the 5th finger, Microphthalmia, Tapered finger |
ORPHA:65286 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia, Camptodactyly of finger, Broad thumb, Tapered finger |
ORPHA:1236 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Fused labia majora, Premature pubarche, Hypogonadotropic hypogonadism, Abnormal external genitali... |
ORPHA:90794 |
Fryns Syndrome |
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Clinodactyly of the 5th finger, Microphthalmia, Short distal phalanx of finger, Micrognathia |
ORPHA:2059 |
Mycophenolate Mofetil Embryopathy |
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Short palm, Microphthalmia, Foot polydactyly, Micrognathia |
ORPHA:268249 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Microphthalmia, Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of... |
ORPHA:364577 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Myhre Syndrome |
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Overlapping toe, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Short long bone, Short fin... |
OMIM:139210 |
Kapur-Toriello Syndrome |
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Microphthalmia |
ORPHA:2328 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Cataract, Ventricular septal defect, Toe syndactyly, Rocker bottom foot, Bifid... |
OMIM:256520 |
Trisomy 18 |
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Microretrognathia, Camptodactyly of finger, Abnormality of the lower limb, Postaxial hand polydac... |
ORPHA:3380 |
Trichothiodystrophy 4, Nonphotosensitive |
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Microphthalmia |
OMIM:234050 |
Perrault Syndrome 4 |
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Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
Premature Ovarian Failure 18 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypoammonemia, Osteomalacia, Micrognathia, Hip dislocation, Genu valgum, Buphthalmo... |
ORPHA:534 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:248450 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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11 pairs of ribs, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Hip dysplasia, Micr... |
OMIM:620005 |
Meckel Syndrome, Type 1 |
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Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Micrognathia, Camptodactyly... |
OMIM:249000 |
Dubowitz Syndrome |
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Syndactyly, Pes planus, Micrognathia, Hypoplasia of the iris, Hypocholesterolemia, Clinodactyly o... |
OMIM:223370 |
Popliteal Pterygium Syndrome |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Ectodermal Dysplasia-Blindness Syndrome |
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Microphthalmia |
ORPHA:1806 |
Osteopathia Striata With Cranial Sclerosis |
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Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Craniofacial osteo... |
OMIM:300373 |
Ramon Syndrome |
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Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Enlarged labia minora |
OMIM:266270 |
Kinsship Syndrome |
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Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyl... |
OMIM:619297 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Monosomy 13Q14 |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,... |
ORPHA:1587 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Mosaic Variegated Aneuploidy Syndrome |
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Clinodactyly of the 5th finger, Microphthalmia, Osteolysis, Micrognathia |
ORPHA:1052 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Microphthalmia |
ORPHA:2728 |
Encephalocraniocutaneous Lipomatosis |
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Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morphology, ... |
ORPHA:261552 |
Limb-Mammary Syndrome |
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Syndactyly, Toe syndactyly, Chronic irritative conjunctivitis, 3-4 finger cutaneous syndactyly, A... |
ORPHA:69085 |
Cat Eye Syndrome |
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Absent radius, Microphthalmia, Micrognathia |
OMIM:115470 |
Trichothiodystrophy |
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Osteopenia, Increased bone mineral density, Craniosynostosis, Hypoplasia of mandible relative to ... |
ORPHA:33364 |
Holoprosencephaly |
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Hyponatremia, Anophthalmia, Talipes, Hand polydactyly, Microphthalmia, Brachydactyly |
ORPHA:2162 |
Degcags Syndrome |
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Osteopenia, Syndactyly, Toe syndactyly, Craniosynostosis, Micrognathia, Short thumb, Preaxial han... |
OMIM:619488 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Trichothiodystrophy 1, Photosensitive |
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Microphthalmia |
OMIM:601675 |
Ehlers-Danlos Syndrome, Vascular Type |
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Keratoconus, Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges ... |
OMIM:130050 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Pes planus, Broad hallux, Arachnodactyly, Short finger, Microphthalmia |
OMIM:601552 |
Estrogen Resistance Syndrome |
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Enlarged polycystic ovaries, Delayed epiphyseal ossification, Hypoplasia of the uterus |
ORPHA:785 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Pes planus, Tapered finger, Micrognathia, Long fingers, 2-3 toe syndactyly, Short palm, Clinodact... |
OMIM:616734 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Unilateral microphthalmos, Adducted thumb |
OMIM:618874 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Micrognathia, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ... |
OMIM:608670 |
Fryns Syndrome |
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Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Short thumb, Camptodactyly, P... |
OMIM:229850 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Microretrognathia, 2-5 finger syndactyly, Optic nerve hypoplasia, Craniosynostosis, Ankle flexion... |
ORPHA:468631 |
Treacher-Collins Syndrome |
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Microphthalmia, Abnormality of bone mineral density, Micrognathia |
ORPHA:861 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Single ... |
OMIM:157170 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Monosomy 9Q22.3 |
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Microphthalmia, Plantar pits, Polydactyly |
ORPHA:77301 |
Lymphedema-Distichiasis Syndrome |
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Microphthalmia, Micrognathia |
OMIM:153400 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Arachnodactyly, Hyp... |
OMIM:201750 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Pes planus, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Duplication... |
OMIM:612474 |
Monosomy 9P |
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Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Postaxial hand polyda... |
ORPHA:261112 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Syndactyly, Unilateral brachydactyly, Bifid uterus |
ORPHA:1521 |
Xeroderma Pigmentosum, Complementation Group D |
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Microphthalmia |
OMIM:278730 |
22Q11.2 Deletion Syndrome |
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Arachnodactyly, Micrognathia, Multiple suture craniosynostosis, Hand polydactyly, Talipes equinov... |
ORPHA:567 |
Linear Nevus Sebaceus Syndrome |
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Microphthalmia, Genu recurvatum |
ORPHA:2612 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Micrognathia, Short middle ph... |
OMIM:607932 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Syndactyly, Micrognathia, Hip dysplasia, Clinodactyly of the 5th finger, Microphthalmia |
OMIM:616975 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Microphthalmia, Postaxial hand polydactyly, Talipes, Micrognathia |
ORPHA:2166 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Microphthalmia |
OMIM:300952 |
8Q24.3 Microdeletion Syndrome |
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Microretrognathia, Pes planus, Long toe, Congenital hip dislocation, Short femur, Optic nerve hyp... |
ORPHA:508488 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microphthalmia |
OMIM:110100 |
Estrogen Resistance |
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Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Pallister-Hall Syndrome |
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Microretrognathia, Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowi... |
ORPHA:672 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Camptodactyly of finger, Finger clinodactyly, Aplasia/Hypoplasia of the frontal sinuses, Micropht... |
ORPHA:306542 |
Fraser Syndrome 2 |
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Microphthalmia, Cutaneous syndactyly |
OMIM:617666 |
Witteveen-Kolk Syndrome |
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Microretrognathia, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... |
OMIM:613406 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Fontaine Progeroid Syndrome |
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Syndactyly, Craniosynostosis, Micrognathia, Absent distal phalanges, Microphthalmia, Coronal cran... |
OMIM:612289 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2250 |
Chromosome 13Q14 Deletion Syndrome |
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Overlapping toe, Micrognathia, Hip dislocation, Clinodactyly of the 5th finger, Microphthalmia |
OMIM:613884 |
Holoprosencephaly 9 |
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Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Broad hallux, Micrognathia, Unconjugated hyperbilirubinemia, Microphthalmia, Clinodactyly |
OMIM:620186 |
Alström Syndrome |
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Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa... |
ORPHA:64 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Small scrotum, Renal cyst, Camptodactyly of 2nd-5th fingers, Short pa... |
OMIM:601803 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Tetraamelia Syndrome 1 |
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Microphthalmia, Hypoplastic pelvis, Tetraamelia, Micrognathia |
OMIM:273395 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Renpenning Syndrome 1 |
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Micrognathia, Narrow foot, Synostosis of the proximal phalanx of the thumb with the 1st metacarpa... |
OMIM:309500 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2526 |
Microphthalmia With Linear Skin Defects Syndrome |
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Mandibular aplasia, Microphthalmia, Anophthalmia, Micrognathia |
ORPHA:2556 |
Adams-Oliver Syndrome 1 |
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Microphthalmia, Toe syndactyly, Talipes equinovarus, Brachydactyly |
OMIM:100300 |
Bosma Arhinia Microphthalmia Syndrome |
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Microphthalmia, Paranasal sinus hypoplasia |
OMIM:603457 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Congenital hip dislocation, Abnormal heart valve morphology, Hypospadias, Cryptorchi... |
ORPHA:286 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Aplasia/Hypoplasia of the sternum, Bilateral micro... |
OMIM:219000 |
Fraser Syndrome |
|
Finger syndactyly, Toe syndactyly, Anophthalmia, Microphthalmia, Wide pubic symphysis |
ORPHA:2052 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Hallux valgus, Pes planus, Syndactyly, Ulnar deviation of the hand, Broad hallux, Long toe, Arach... |
ORPHA:261537 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Proximal placement of thumb, Micrognathia, Short thumb, Preaxial hand polydactyly, ... |
OMIM:113620 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Elevated circulating creatine kinase concentration |
OMIM:175780 |
Loeys-Dietz Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Uterine rupture |
ORPHA:60030 |
Mowat-Wilson Syndrome |
|
Hallux valgus, Pes planus, Syndactyly, Ulnar deviation of the hand, Broad hallux, Long toe, Taper... |
ORPHA:2152 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos, Micrognathia |
OMIM:154500 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Down-sloping shoulders, Short clavicles, Radial deviation of finger, Ca... |
OMIM:309800 |
Craniofacial Microsomia 1 |
|
Anophthalmia, Micrognathia, Partial duplication of thumb phalanx, Genu valgum, Microphthalmia, Ve... |
OMIM:164210 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |