Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Stargardt Disease 1 |
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Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Exudative Vitreoretinopathy 7 |
|
Vitreoretinopathy, Retinal degeneration, Retinal hole |
OMIM:617572 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 11 |
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Macular degeneration |
OMIM:611953 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
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Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Retinoschisis 1, X-Linked, Juvenile |
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Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... |
ORPHA:59181 |
Frontal Encephalocele |
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Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification |
ORPHA:1931 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
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Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:304030 |
Familial Drusen |
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Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Macular Degeneration, Age-Related, 1 |
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Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... |
OMIM:603075 |
Retinal Detachment |
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Retinal detachment |
OMIM:180050 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Retinitis Pigmentosa 13 |
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Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy |
OMIM:600059 |
Birdshot Chorioretinopathy |
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Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Spina bifida, Anencephaly |
ORPHA:2476 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Retinitis Pigmentosa 50 |
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Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Agenesis of co... |
OMIM:207950 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Chorioretinal atr... |
OMIM:616468 |
Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Microcephaly, Spina bifida occulta |
ORPHA:64754 |
Caudal Duplication |
|
Spinal cord lesion, Spina bifida, Myelomeningocele |
ORPHA:1756 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele |
OMIM:182940 |
Exudative Vitreoretinopathy 2, X-Linked |
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Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Aplasia Cutis Congenita |
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Spinal dysraphism |
ORPHA:1114 |
Senior-Loken Syndrome 7 |
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Retinal degeneration |
OMIM:613615 |
Hemihyperplasia, Isolated |
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Myelomeningocele |
OMIM:235000 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Schisis Association |
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Spina bifida, Anencephaly, Microcephaly |
ORPHA:63862 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Amish Lethal Microcephaly |
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Spina bifida, Agenesis of corpus callosum, Microcephaly, Lissencephaly |
ORPHA:99742 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
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Spina bifida occulta, Hydrocephalus, Myelomeningocele |
OMIM:183802 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... |
OMIM:133780 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Vitreoretinopathy, Neovascular Inflammatory |
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Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Microcephaly |
ORPHA:1327 |
Anophthalmia Plus Syndrome |
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Spina bifida |
ORPHA:1104 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Isolated Hemihyperplasia |
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Myelomeningocele |
ORPHA:2128 |
Myopia 2, Autosomal Dominant |
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Retinal detachment |
OMIM:160700 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Aminopterin/Methotrexate Embryofetopathy |
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Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus call... |
ORPHA:1908 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida |
OMIM:600122 |
Czeizel-Losonci Syndrome |
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Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
ORPHA:2437 |
Thoraco-Abdominal Enteric Duplication |
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Meningocele, Diastomatomyelia |
ORPHA:1759 |
Subependymal Nodular Heterotopia |
|
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Polymicrogyria, Focal cor... |
ORPHA:101030 |
Fountain Syndrome |
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Spina bifida, Spina bifida occulta |
ORPHA:3219 |
Congenital Vertical Talus |
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Myelomeningocele |
ORPHA:178382 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Spina bifida, Patent ductus arteriosus |
ORPHA:1120 |
Iniencephaly |
|
Anencephaly, Myelomeningocele, Holoprosencephaly, Syringomyelia, Lissencephaly, Spina bifida, Hyd... |
ORPHA:63259 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Hydranencephaly, Myelomeningocele, Spina bifida, Porencephalic cyst, Cerebral calcif... |
ORPHA:1393 |
Humero-Radial Synostosis |
|
Meningocele, Microcephaly |
ORPHA:3265 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Hydrocephalus, Microcephaly |
ORPHA:1926 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Hydranencephaly |
ORPHA:2839 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Spinal dysraphism |
OMIM:612918 |
Posterior Meningocele |
|
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... |
ORPHA:268810 |
Diaphanospondylodysostosis |
|
Myelomeningocele |
ORPHA:66637 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Spinal dysraphism, Microcephaly |
OMIM:617660 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Absent septum pellucidum, Pachygyria, Macrogyria, Spina bifida, Polym... |
ORPHA:2671 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Spina bifida occulta, Myelomeningocele |
OMIM:613686 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Syringomyelia, Hydrocepha... |
ORPHA:1136 |
Meckel Syndrome, Type 4 |
|
Meningocele, Anencephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:611134 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
Mosaic Trisomy 9 |
|
Microcephaly, Spina bifida, Patent ductus arteriosus |
ORPHA:99776 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Pachygyria, Macrogyria, Exencephaly, Polymicrogyria, Lissencephaly |
ORPHA:2211 |
Vacterl With Hydrocephalus |
|
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis |
ORPHA:3412 |
Meckel Syndrome, Type 2 |
|
Meningocele, Anencephaly |
OMIM:603194 |
Trisomy 18 |
|
Anencephaly, Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Microcep... |
ORPHA:3380 |
Enlarged Parietal Foramina |
|
Myelomeningocele, Encephalomalacia |
ORPHA:60015 |
Aicardi Syndrome |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Cavum septum pellucidum, Pachyg... |
OMIM:304050 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele |
OMIM:193500 |
Neurocutaneous Melanocytosis |
|
Meningocele, Syringomyelia |
ORPHA:2481 |
Vitamin K Antagonist Embryofetopathy |
|
Hydrocephalus, Myelomeningocele |
ORPHA:1914 |
Triploidy |
|
Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Hydrocephalus |
ORPHA:3376 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism |
OMIM:603546 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Hydranencephaly, Stillbirth, Small placenta, Patent ductus arteriosus, Spin... |
OMIM:256520 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Partial agenesis of the corpus callosum, Patent ductus arteriosus, Spina bifida, Thin corpus call... |
OMIM:619480 |
Limb Body Wall Complex |
|
Short umbilical cord, Anencephaly, Myelomeningocele, Abnormality of the spinal cord, Spina bifida... |
ORPHA:2369 |
Cloacal Exstrophy |
|
Spina bifida, Myelomeningocele |
ORPHA:93929 |
Focal Dermal Hypoplasia |
|
Spina bifida, Umbilical hernia, Patent ductus arteriosus |
ORPHA:2092 |
Basal Cell Nevus Syndrome |
|
Spina bifida, Hydrocephalus, Calcification of falx cerebri |
OMIM:109400 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Ulnar Hemimelia |
|
Spinal dysraphism |
ORPHA:93320 |
Lateral Meningocele Syndrome |
|
Meningocele, Syringomyelia, Patent ductus arteriosus, Dural ectasia, Umbilical hernia |
OMIM:130720 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Microcephaly |
OMIM:234100 |
Pagod Syndrome |
|
Meningocele, Spina bifida, Microcephaly |
ORPHA:991 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis of corpus... |
ORPHA:508498 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Hypoplasia of the olfactory bulb, Anterior pituitary hypoplasia, Hypopituitarism, Ag... |
ORPHA:1827 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Spina bifida occulta, Umbilical hernia, Microcephaly |
ORPHA:2311 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Pineal cyst, Dural ectasia, Spina bifida, Hydrocephalus, Decreased response to growth hormone sti... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Pineal cyst, Dural ectasia, Spina bifida, Hydrocephalus, Decreased response to growth hormone sti... |
ORPHA:363958 |
Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Aqueductal stenosis |
OMIM:162200 |
Jacobsen Syndrome |
|
Pachygyria, Spina bifida, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:2308 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cavum septum pellucidum, Spina bifida |
OMIM:274000 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Arrhinencephaly, Occipital myelomeningocele, Patent ductus arteriosus, Spina bifida,... |
ORPHA:567 |
Lateral Meningocele Syndrome |
|
Meningocele, Syringomyelia, Dural ectasia, Umbilical hernia |
ORPHA:2789 |
Holoprosencephaly |
|
Holoprosencephaly, Branchial anomaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, P... |
ORPHA:2162 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Split Cord Malformation |
|
Meningocele, Hydromyelia, Myelomeningocele, Syringomyelia, Hydrocephalus, Cervical spina bifida, ... |
ORPHA:573278 |
Fanconi Anemia |
|
Patent ductus arteriosus, Spina bifida, Hydrocephalus, Umbilical hernia, Microcephaly |
ORPHA:84 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Myelomeningocele, Microcephaly |
ORPHA:94065 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Colpocephaly, Abnormal corpus callosum morphology, Absent s... |
ORPHA:397715 |
Phaver Syndrome |
|
Myelomeningocele |
ORPHA:2876 |
Vater/Vacterl Association |
|
Patent urachus, Tethered cord, Spina bifida, Patent ductus arteriosus |
OMIM:192350 |
Sacral Defect With Anterior Meningocele |
|
Meningocele |
OMIM:600145 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism |
ORPHA:175 |
Non-Syndromic Anorectal Malformation |
|
Tethered cord, Syringomyelia, Myelomeningocele |
ORPHA:557 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Myelomeningocele, Hypothalamic hamartoma, Porencephalic cyst, Hydroce... |
OMIM:311200 |
Lathosterolosis |
|
Meningocele, Microcephaly, Cerebral calcification |
ORPHA:46059 |
Trisomy 8Q |
|
Myelomeningocele |
ORPHA:1752 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Hydrocephalus, Microcephaly |
ORPHA:322 |
Waardenburg Syndrome |
|
Myelomeningocele |
ORPHA:3440 |
Otopalatodigital Syndrome Type 2 |
|
Hydrocephalus, Myelomeningocele |
ORPHA:90652 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Microcephaly, Spinal dysraphism, Large placenta, Lissencephaly |
ORPHA:96334 |
Phocomelia, Schinzel Type |
|
Meningocele |
ORPHA:2879 |
Joubert Syndrome 1 |
|
Occipital myelomeningocele, Microcephaly |
OMIM:213300 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Lathosterolosis |
|
Myelomeningocele, Microcephaly, Cerebral atrophy |
OMIM:607330 |
Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
Oeis Complex |
|
Tethered cord, Hydrocephalus, Myelomeningocele |
OMIM:258040 |
Marfan Syndrome |
|
Meningocele, Dural ectasia |
ORPHA:558 |
Focal Dermal Hypoplasia |
|
Agenesis of corpus callosum, Myelomeningocele, Hydrocephalus, Spina bifida occulta, Umbilical her... |
OMIM:305600 |
Fraser Syndrome 1 |
|
Abnormal cortical gyration, Hydrocephalus, Myelomeningocele, Microcephaly |
OMIM:219000 |
Fraser Syndrome |
|
Microcephaly, Umbilical hernia, Myelomeningocele |
ORPHA:2052 |
Tibial Hemimelia |
|
Myelomeningocele |
ORPHA:93322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele |
OMIM:276820 |