Leber Hereditary Optic Neuropathy, Modifier Of |
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Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect, Retinal dysplasia |
OMIM:615041 |
Retinitis Pigmentosa 36 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Leber Congenital Amaurosis 13 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Retinitis Pigmentosa 71 |
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Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Ophthalmoplegia, External, And Myopia |
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Retinal degeneration, Spina bifida, Chorioretinal degeneration |
OMIM:311000 |
Retinitis Pigmentosa 30 |
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Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Retinitis Pigmentosa 57 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Retinitis Pigmentosa 33 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Birdshot Chorioretinopathy |
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Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Retinitis Pigmentosa 81 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Retinitis Pigmentosa 11 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Wildervanck Syndrome |
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Meningocele, Facial palsy, Pseudopapilledema |
ORPHA:3456 |
Retinitis Pigmentosa 70 |
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Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Frontal Encephalocele |
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Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Eales Disease |
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Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Acalvaria |
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Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Thoraco-Abdominal Enteric Duplication |
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Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Leber Congenital Amaurosis |
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Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Familial Exudative Vitreoretinopathy |
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Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Muscle-Eye-Brain Disease |
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Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Neural Tube Defects, Susceptibility To |
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Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Meckel Syndrome, Type 4 |
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Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Isolated Klippel-Feil Syndrome |
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Ventricular septal defect, Spina bifida, Abnormal cranial nerve morphology |
ORPHA:2345 |
Subependymal Nodular Heterotopia |
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Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Retinitis Pigmentosa 86 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Humero-Radial Synostosis |
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Meningocele, Chorioretinal coloboma |
ORPHA:3265 |
Schisis Association |
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Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Nevus Comedonicus Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, Abnormal aortic valve mor... |
ORPHA:1120 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Joubert Syndrome 14 |
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Encephalocele, Ventricular septal defect, Morning glory anomaly, Hydrocephalus, Meningocele, Opti... |
OMIM:614424 |
Caudal Duplication |
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Myelomeningocele, Spina bifida |
ORPHA:1756 |
Meckel Syndrome, Type 2 |
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Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism, Hydrocephalus |
ORPHA:31 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
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Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Friedreich Ataxia |
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Optic atrophy, Decreased pyruvate carboxylase activity, Hypertrophic cardiomyopathy, Decreased se... |
OMIM:229300 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Triploidy |
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Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, Intrauterine g... |
ORPHA:3376 |
Czeizel-Losonci Syndrome |
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Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
Acropectorovertebral Dysplasia |
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Spina bifida |
ORPHA:957 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
Neurocutaneous Melanocytosis |
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Abnormality of retinal pigmentation, Meningocele, Chorioretinal coloboma |
ORPHA:2481 |
Amish Lethal Microcephaly |
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Optic atrophy, Spina bifida |
ORPHA:99742 |
Waardenburg Syndrome Type 1 |
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Meningocele, Aganglionic megacolon, Spina bifida |
ORPHA:894 |
Autosomal Recessive Spondylocostal Dysostosis |
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Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta, Intrauter... |
ORPHA:2311 |
Cerebrocostomandibular Syndrome |
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Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute... |
ORPHA:1393 |
Isolated Posterior Meningocele |
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Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Anophthalmia Plus Syndrome |
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Spina bifida |
ORPHA:1104 |
Pagod Syndrome |
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Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Optic atrophy, Hypoplastic left... |
ORPHA:991 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Hydrocephalus, Retinal coloboma, Spina bifida |
ORPHA:2839 |
Heterotaxy, Visceral, 1, X-Linked |
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Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Meningocele, Chorioretinal coloboma |
ORPHA:2031 |
Fountain Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Mosaic Trisomy 9 |
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Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Endocardi... |
ORPHA:99776 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycle metabolism, Dilated ... |
ORPHA:255210 |
Limb Body Wall Complex |
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Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Iniencephaly |
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Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Facial palsy,... |
ORPHA:508498 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Decreased fumarate hydratase activity |
OMIM:150800 |
Lateral Meningocele Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Meningocele, Umbilical hernia |
OMIM:130720 |
Sirenomelia |
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Spina bifida, Sirenomelia |
ORPHA:3169 |
Trisomy 18 |
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Abnormality of retinal pigmentation, Ventricular septal defect, Spina bifida, Anencephaly, Holopr... |
ORPHA:3380 |
Lateral Meningocele Syndrome |
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Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Occipital encephalocele, Retinal dystrophy, Subretinal deposits, Meningocele, Abnormal optic disc... |
ORPHA:397715 |
Vacterl With Hydrocephalus |
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Spina bifida, Aqueductal stenosis, Hydrocephalus, Abnormal optic nerve morphology, Intrauterine g... |
ORPHA:3412 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Hydrocephalus, Anencephaly, Retinal coloboma, Atrial septal defect, Occipital meningocele |
OMIM:616546 |
Acromelic Frontonasal Dysplasia |
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Encephalocele, Meningocele |
ORPHA:1827 |
Knobloch Syndrome 1 |
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Occipital encephalocele, Retinal detachment, Optic disc pallor, Chorioretinal atrophy, Vitreoreti... |
OMIM:267750 |
Trisomy 20P |
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Umbilical hernia, Abnormal autonomic nervous system physiology, Spina bifida |
ORPHA:261318 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Meningocele |
ORPHA:2003 |
22Q11.2 Deletion Syndrome |
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Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Aganglionic megacol... |
ORPHA:567 |
Focal Dermal Hypoplasia |
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Ventricular septal defect, Spina bifida, Abnormal cardiac septum morphology, Chorioretinal colobo... |
ORPHA:2092 |
Fumarase Deficiency |
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Optic atrophy, Perimembranous ventricular septal defect, Decreased fumarate hydratase activity |
OMIM:606812 |
Neu-Laxova Syndrome 2 |
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Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Hypopigmentation of the fundus, Spina bifida |
OMIM:193500 |
Chromosome 17P13.1 Deletion Syndrome |
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Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Fanconi Anemia |
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Abnormality of chromosome stability, Aganglionic megacolon, Spina bifida, Hydrocephalus, Abnormal... |
ORPHA:84 |
Aicardi Syndrome |
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Retinal detachment, Spina bifida, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy |
OMIM:304050 |
Phakomatosis Pigmentokeratotica |
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Pheochromocytoma, Spina bifida |
ORPHA:2874 |
Hallermann-Streiff Syndrome |
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Optic disc coloboma, Spina bifida, Chorioretinal coloboma |
OMIM:234100 |
Fibular Hemimelia |
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Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Optic atrophy, Abn... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Optic atrophy, Abn... |
ORPHA:363958 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Decreased methylmalonyl-CoA mutase activity, Hydrocephalus, Pigmentary retinopathy |
OMIM:277400 |
Neurofibromatosis, Type I |
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Spina bifida, Aqueductal stenosis, Hydrocephalus, Neurofibroma, Pheochromocytoma, Plexiform neuro... |
OMIM:162200 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |
Basal Cell Nevus Syndrome 1 |
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Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Transp... |
OMIM:256520 |
Neu-Laxova Syndrome |
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Intrauterine growth retardation, Spina bifida |
ORPHA:2671 |
Lathosterolosis |
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Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
Nail-Patella Syndrome |
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Spina bifida |
OMIM:161200 |
Jacobsen Syndrome |
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Ventricular septal defect, Spina bifida, Hypoplastic left heart, Intrauterine growth retardation,... |
ORPHA:2308 |
Cloacal Exstrophy |
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Myelomeningocele, Spina bifida |
ORPHA:93929 |
Arima Syndrome |
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Occipital meningocele, Optic atrophy, Retinal dystrophy, Chorioretinal coloboma |
OMIM:243910 |
Curry-Jones Syndrome |
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Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Methylmalonic Aciduria, Cblb Type |
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Decreased methylmalonyl-CoA mutase activity |
OMIM:251110 |
Thrombocytopenia-Absent Radius Syndrome |
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Ventricular septal defect, Spina bifida, Atrial septal defect, Atrioventricular canal defect, Tet... |
OMIM:274000 |
Orofaciodigital Syndrome Vi |
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Occipital meningocele, Hypoplastic left heart |
OMIM:277170 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Unilateral facial palsy, Atrioventricular canal defect, Spina bifida |
OMIM:619480 |
Methylmalonic Aciduria, Cbla Type |
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Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
Rubinstein-Taybi Syndrome 1 |
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Ventricular septal defect, Spina bifida, Mitral valve prolapse, Perimembranous ventricular septal... |
OMIM:180849 |
Vater/Vacterl Association |
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Occipital encephalocele, Ventricular septal defect, Spina bifida, Transposition of the great arte... |
OMIM:192350 |
Campomelic Dysplasia |
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Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Phocomelia, Schinzel Type |
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Intrauterine growth retardation, Meningocele |
ORPHA:2879 |
Marfan Syndrome |
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Retinal detachment, Mitral valve calcification, Meningocele, Mitral valve prolapse |
ORPHA:558 |
Friedreich Ataxia 2 |
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Decreased pyruvate carboxylase activity, Muscular subvalvular aortic stenosis, Concentric hypertr... |
OMIM:601992 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Split Cord Malformation |
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Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Meningocele |
ORPHA:1010 |
Otopalatodigital Syndrome, Type Ii |
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Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele |
OMIM:276820 |