Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Mosaic Variegated Aneuploidy Syndrome 4 |
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Abnormality of chromosome stability |
OMIM:620153 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
Fraxf Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Hsd10 Mitochondrial Disease |
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Abnormal mitochondrial morphology |
OMIM:300438 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Decreased mitochondrial number |
ORPHA:352470 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Spastic Paraplegia Type 7 |
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Abnormal mitochondrial morphology |
ORPHA:99013 |
Frontal Encephalocele |
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Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho... |
OMIM:615578 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal mitochondrial morphology |
ORPHA:275872 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
Acalvaria |
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Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism, Hydrocephalus |
ORPHA:31 |
Neural Tube Defects, Susceptibility To |
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Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape |
OMIM:610773 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Anencephaly, Spina bifida |
ORPHA:2476 |
Subependymal Nodular Heterotopia |
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Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Caudal Duplication |
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Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:1756 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Decreased mitochondrial number |
ORPHA:352447 |
Nevus Comedonicus Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Schisis Association |
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Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Scleroderma, Familial Progressive |
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Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Mitochondrial hypertrophy |
OMIM:602541 |
Barth Syndrome |
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Abnormal mitochondrial morphology |
OMIM:302060 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... |
ORPHA:1908 |
Muscle-Eye-Brain Disease |
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Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Meckel Syndrome, Type 4 |
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Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation |
OMIM:611134 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy |
OMIM:619518 |
Wildervanck Syndrome |
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Meningocele |
ORPHA:3456 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Mitochondrial swelling |
ORPHA:397744 |
Meckel Syndrome, Type 2 |
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Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape |
ORPHA:412217 |
Humero-Radial Synostosis |
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Meningocele |
ORPHA:3265 |
Thoraco-Abdominal Enteric Duplication |
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Meningocele |
ORPHA:1759 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape |
ORPHA:485421 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Mitochondrial swelling |
OMIM:615595 |
Acropectorovertebral Dysplasia |
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Spina bifida |
ORPHA:957 |
Friedreich Ataxia |
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Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity |
OMIM:229300 |
Triploidy |
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Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation |
ORPHA:3376 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Decreased fumarate hydratase activity |
OMIM:150800 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Increased mitochondrial number |
ORPHA:263297 |
Isolated Klippel-Feil Syndrome |
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Spina bifida |
ORPHA:2345 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape |
ORPHA:543470 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Ab... |
ORPHA:17 |
Isolated Posterior Meningocele |
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Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Fumarase Deficiency |
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Mitochondrial swelling, Decreased fumarate hydratase activity |
OMIM:606812 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Autosomal Recessive Spondylocostal Dysostosis |
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Cryptorchidism, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation |
ORPHA:2311 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Waardenburg Syndrome Type 1 |
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Meningocele, Spina bifida |
ORPHA:894 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Decreased methylmalonyl-CoA mutase activity, Hydrocephalus |
OMIM:277400 |
Joubert Syndrome 14 |
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Encephalocele, Hydrocephalus, Meningocele |
OMIM:614424 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Cryptorchidism, Meningocele |
ORPHA:1827 |
Iniencephaly |
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Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Cerebrocostomandibular Syndrome |
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Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation |
ORPHA:1393 |
Methylmalonic Aciduria, Cblb Type |
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Decreased methylmalonyl-CoA mutase activity |
OMIM:251110 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Methylmalonic Aciduria, Cbla Type |
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Decreased methylmalonyl-CoA mutase activity |
OMIM:251100 |
Lateral Meningocele Syndrome |
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Umbilical hernia, Meningocele, Cryptorchidism |
ORPHA:2789 |
Amish Lethal Microcephaly |
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Spina bifida |
ORPHA:99742 |
Lateral Meningocele Syndrome |
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Umbilical hernia, Hydrocephalus, Meningocele, Cryptorchidism |
OMIM:130720 |
Lumbar Syndrome |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:83628 |
Vacterl With Hydrocephalus |
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Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation |
ORPHA:3412 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Trisomy 20P |
|
Macroorchidism, Umbilical hernia, Spina bifida, Cryptorchidism |
ORPHA:261318 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Abnormality of Krebs cycle metabolism |
ORPHA:255210 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
Trisomy 18 |
|
Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Intrauterine growth retardation |
ORPHA:3380 |
Phakomatosis Pigmentokeratotica |
|
Cryptorchidism, Spina bifida |
ORPHA:2874 |
Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Spina bifida, Cryptorchidism |
ORPHA:99776 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Abnormal testis morphology, Spina bifida |
ORPHA:991 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele |
ORPHA:397715 |
Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:2671 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Friedreich Ataxia 2 |
|
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity |
OMIM:601992 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Meningocele, Cryptorchidism |
ORPHA:2879 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Spina bifida |
OMIM:234100 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly |
OMIM:616546 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Spina bifida |
ORPHA:2092 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Cryptorchidism, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, H... |
OMIM:256520 |
22Q11.2 Deletion Syndrome |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical h... |
ORPHA:567 |
Fanconi Anemia |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Umbilical hernia, Abnormal testis morph... |
ORPHA:84 |
Jacobsen Syndrome |
|
Intrauterine growth retardation, Spina bifida, Cryptorchidism |
ORPHA:2308 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cryptorchidism, Hydrocephalus, Testicular neoplasm, Spina bifida |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Cryptorchidism, Hydrocephalus, Testicular neoplasm, Spina bifida |
ORPHA:363958 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele |
OMIM:277170 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida |
ORPHA:508498 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Campomelic Dysplasia |
|
Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida |
OMIM:274000 |
Rubinstein-Taybi Syndrome 1 |
|
Bilateral cryptorchidism, Cryptorchidism, Spina bifida occulta, Spina bifida |
OMIM:180849 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:616733 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida |
OMIM:619480 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Patent urachus, Intrauterine growth retardation |
OMIM:192350 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia |
OMIM:304120 |
Exstrophy-Epispadias Complex |
|
Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Cryptorchidism |
OMIM:276820 |