Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Familial Alzheimer-Like Prion Disease |
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Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Depression, An... |
ORPHA:280397 |
Severe Primary Trimethylaminuria |
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Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Chorea, Benign Hereditary |
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Gait disturbance, Dementia, Anxiety |
OMIM:118700 |
Creutzfeldt-Jakob Disease |
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Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment |
OMIM:123400 |
Anencephaly 1 |
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Spina bifida, Anencephaly |
OMIM:206500 |
Huntington Disease-Like 2 |
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Inertia, Anxiety, Apathy, Dementia, Depression, Subcortical dementia, Irritability, Memory impair... |
OMIM:606438 |
Epilepsy, Progressive Myoclonic, 12 |
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Ataxia, Dysmetria, Difficulty walking, Depression, Anxiety, Mental deterioration |
OMIM:619191 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis |
OMIM:615483 |
Obsessive-Compulsive Disorder |
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Skin-picking, Depression, Anxiety |
OMIM:164230 |
Myelopathy, Htlv-1-Associated |
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Myelopathy |
OMIM:159580 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
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Inappropriate behavior, Frontotemporal dementia, Inertia, Falls, Shuffling gait, Motor deteriorat... |
ORPHA:412066 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Inappropriate behavior, Cognitive impairment, Ataxia, Depression, Anxiety, Memory impairment |
ORPHA:401901 |
Cholesterol-Ester Transfer Protein Deficiency |
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Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Huntington Disease-Like 1 |
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Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait |
OMIM:603218 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
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Depression, Bradykinesia, Dementia, Anxiety |
OMIM:605909 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
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Falls, Apathy, Depression, Anxiety, Mental deterioration, Memory impairment, Bradykinesia |
ORPHA:240085 |
Frontal Encephalocele |
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Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Spinocerebellar Ataxia 12 |
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Dysdiadochokinesis, Dementia, Dysmetria, Depression, Anxiety, Progressive cerebellar ataxia |
OMIM:604326 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Dystonia 12 |
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Emotional lability, Depression, Anxiety, Unsteady gait, Bradykinesia |
OMIM:128235 |
Hemihyperplasia, Isolated |
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Myelomeningocele |
OMIM:235000 |
Hyperlipidemia, Familial Combined, 3 |
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Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Neural Tube Defects, Susceptibility To |
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Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Progressive Supranuclear Palsy |
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Cognitive impairment, Falls, Dementia, Abnormal synaptic transmission, Depression, Unsteady gait,... |
ORPHA:683 |
Acalvaria |
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Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Childhood Disintegrative Disorder |
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Abnormal emotion/affect behavior, Social and occupational deterioration, Anxiety, Motor deteriora... |
ORPHA:168782 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Spina bifida, Anencephaly |
ORPHA:2476 |
Pandas |
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Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Depression, Ag... |
ORPHA:66624 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Isolated Hemihyperplasia |
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Myelomeningocele |
ORPHA:2128 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
Craniorachischisis |
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Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Subependymal Nodular Heterotopia |
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Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele |
ORPHA:101030 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Abnormal aggressive,... |
ORPHA:3077 |
Schisis Association |
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Spina bifida, Anencephaly, Encephalocele |
ORPHA:63862 |
Perry Syndrome |
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Inappropriate behavior, Frontotemporal dementia, Suicidal ideation, Akinesia, Apathy, Short stepp... |
OMIM:168605 |
Nevus Comedonicus Syndrome |
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Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia |
OMIM:610539 |
Wildervanck Syndrome |
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Meningocele |
ORPHA:3456 |
Chiari Malformation Type Ii |
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Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy |
OMIM:207950 |
Caudal Duplication |
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Spina bifida, Myelomeningocele |
ORPHA:1756 |
Humero-Radial Synostosis |
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Meningocele |
ORPHA:3265 |
Thoraco-Abdominal Enteric Duplication |
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Meningocele |
ORPHA:1759 |
Early-Onset Schizophrenia |
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Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... |
ORPHA:96369 |
Acropectorovertebral Dysplasia |
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Spina bifida |
ORPHA:957 |
Muscle-Eye-Brain Disease |
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Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Meckel Syndrome, Type 2 |
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Meningocele, Anencephaly, Encephalocele |
OMIM:603194 |
Meckel Syndrome, Type 4 |
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Meningocele, Anencephaly, Hydrocephalus, Encephalocele |
OMIM:611134 |
Sirenomelia |
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Spina bifida, Sirenomelia |
ORPHA:3169 |
Aminopterin/Methotrexate Embryofetopathy |
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Meningocele, Spinal dysraphism, Encephalocele, Anencephaly, Hydrocephalus, Holoprosencephaly |
ORPHA:1908 |
Peroxisome Biogenesis Disorder 3B |
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Hypocholesterolemia, Steatorrhea, Elevated circulating phytanic acid concentration |
OMIM:266510 |
Squalene Synthase Deficiency |
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Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... |
OMIM:618156 |
Posterior Meningocele |
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Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele |
ORPHA:268810 |
Isolated Klippel-Feil Syndrome |
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Spina bifida |
ORPHA:2345 |
Anophthalmia Plus Syndrome |
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Spina bifida |
ORPHA:1104 |
Gm2 Gangliosidosis, Ab Variant |
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Inappropriate behavior, Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety |
ORPHA:309246 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hypocholesterolemia, Conjugated hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
Chylomicron Retention Disease |
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Hypocholesterolemia, Hypertriglyceridemia, Steatorrhea |
ORPHA:71 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Spina bifida |
ORPHA:1327 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Meningocele |
ORPHA:2003 |
Czeizel-Losonci Syndrome |
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Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida |
ORPHA:2437 |
Sacral Defect With Anterior Meningocele |
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Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract |
OMIM:600145 |
Waardenburg Syndrome Type 1 |
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Meningocele, Spina bifida |
ORPHA:894 |
Triploidy |
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Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:3376 |
Neurocutaneous Melanocytosis |
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Meningocele |
ORPHA:2481 |
Fountain Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Joubert Syndrome 14 |
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Meningocele, Hydrocephalus, Encephalocele |
OMIM:614424 |
Iniencephaly |
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Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Hol... |
ORPHA:63259 |
Autosomal Recessive Spondylocostal Dysostosis |
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Meningocele, Spina bifida occulta, Umbilical hernia |
ORPHA:2311 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Meningocele |
ORPHA:2031 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Spina bifida |
ORPHA:1120 |
Amish Lethal Microcephaly |
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Spina bifida |
ORPHA:99742 |
Cerebrocostomandibular Syndrome |
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Meningocele, Hydranencephaly, Myelomeningocele, Spina bifida |
ORPHA:1393 |
Arnold-Chiari Malformation Type Ii |
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Meningocele, Hydrocephalus, Myelomeningocele, Aqueductal stenosis |
ORPHA:1136 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... |
ORPHA:96180 |
Pelvis-Shoulder Dysplasia |
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Spina bifida, Hydranencephaly, Hydrocephalus |
ORPHA:2839 |
Acromelic Frontonasal Dysplasia |
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Meningocele, Encephalocele |
ORPHA:1827 |
Lumbar Syndrome |
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Spina bifida, Myelomeningocele |
ORPHA:83628 |
Abetalipoproteinemia |
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Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipoprotein ... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypocholesterolemia, Steatorrhea, Hypoalbuminemia |
OMIM:212065 |
Lateral Meningocele Syndrome |
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Meningocele, Umbilical hernia |
ORPHA:2789 |
Lateral Meningocele Syndrome |
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Meningocele, Hydrocephalus, Umbilical hernia |
OMIM:130720 |
Neu-Laxova Syndrome 2 |
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Spina bifida |
OMIM:616038 |
Vacterl With Hydrocephalus |
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Spina bifida, Arrhinencephaly, Hydrocephalus, Aqueductal stenosis |
ORPHA:3412 |
Alg12-Cdg |
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Hypocholesterolemia, Hypoalbuminemia, Hyponatremia |
ORPHA:79324 |
Trisomy 20P |
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Spina bifida, Umbilical hernia |
ORPHA:261318 |
Waardenburg Syndrome, Type 1 |
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Spina bifida, Myelomeningocele |
OMIM:193500 |
Phakomatosis Pigmentokeratotica |
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Spina bifida |
ORPHA:2874 |
Cloacal Exstrophy |
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Spina bifida, Myelomeningocele |
ORPHA:93929 |
Secondary Intestinal Lymphangiectasia |
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Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... |
ORPHA:90363 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia |
OMIM:244450 |
Curry-Jones Syndrome |
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Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Tangier Disease |
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Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Limb Body Wall Complex |
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Encephalocele, Myelomeningocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... |
ORPHA:2369 |
Pagod Syndrome |
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Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
Trisomy 18 |
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Spina bifida, Anencephaly, Holoprosencephaly |
ORPHA:3380 |
Mosaic Trisomy 9 |
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Spina bifida |
ORPHA:99776 |
Nail-Patella Syndrome |
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Spina bifida |
OMIM:161200 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Meningocele, Occipital encephalocele |
ORPHA:397715 |
Lathosterolosis |
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Meningocele |
ORPHA:46059 |
Fibular Hemimelia |
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Spina bifida |
ORPHA:93323 |
Neu-Laxova Syndrome |
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Spina bifida |
ORPHA:2671 |
Dubowitz Syndrome |
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Hypocholesterolemia |
OMIM:223370 |
Focal Dermal Hypoplasia |
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Spina bifida, Umbilical hernia |
ORPHA:2092 |
Basal Cell Nevus Syndrome 1 |
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Spina bifida, Hydrocephalus |
OMIM:109400 |
Hallermann-Streiff Syndrome |
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Spina bifida |
OMIM:234100 |
Orofaciodigital Syndrome Vi |
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Arrhinencephaly, Occipital meningocele |
OMIM:277170 |
Neurofibromatosis, Type I |
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Spina bifida, Hydrocephalus, Aqueductal stenosis |
OMIM:162200 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Meningocele |
ORPHA:1010 |
Phocomelia, Schinzel Type |
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Meningocele |
ORPHA:2879 |
Holoprosencephaly 7 |
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Hydrocephalus, Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Ho... |
OMIM:610828 |
Split Cord Malformation |
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Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele |
ORPHA:573278 |
Smith-Lemli-Opitz Syndrome |
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Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia |
OMIM:270400 |
22Q11.2 Deletion Syndrome |
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Meningocele, Spina bifida, Arrhinencephaly, Hydrocephalus, Occipital myelomeningocele, Umbilical ... |
ORPHA:567 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Short umbilical cord, Hydranencephaly, Stillbirth, Small placenta, Neonatal death |
OMIM:256520 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Spina bifida |
ORPHA:508498 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Jacobsen Syndrome |
|
Spina bifida |
ORPHA:2308 |
Campomelic Dysplasia |
|
Spina bifida, Spinal dysraphism, Hydrocephalus |
OMIM:114290 |
Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida |
OMIM:274000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Spina bifida, Hydrocephalus |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Hydrocephalus |
ORPHA:363958 |
Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Umbilical hernia |
ORPHA:84 |
Knobloch Syndrome 1 |
|
Spina bifida occulta, Occipital encephalocele, Occipital meningocele |
OMIM:267750 |
Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Spina bifida |
OMIM:619480 |
Rubinstein-Taybi Syndrome 1 |
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Spina bifida, Spina bifida occulta |
OMIM:180849 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Hydrocephalus, Stillbirth, Umbilical hernia |
OMIM:304120 |
Vater/Vacterl Association |
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Spina bifida, Occipital encephalocele, Patent urachus |
OMIM:192350 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Hydrocephalus |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele |
OMIM:276820 |