Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
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 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Myelopathy, Htlv-1-Associated |
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Myelopathy |
OMIM:159580 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Progressive Supranuclear Palsy |
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Impulsivity, Unsteady gait, Abnormal synaptic transmission, Depression, Bradykinesia, Dementia, F... |
ORPHA:683 |
Frontal Encephalocele |
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Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Hemihyperplasia, Isolated |
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Myelomeningocele |
OMIM:235000 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Acalvaria |
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Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Neural Tube Defects, Susceptibility To |
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Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Anencephaly, Spina bifida |
ORPHA:2476 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Isolated Hemihyperplasia |
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Myelomeningocele |
ORPHA:2128 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
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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Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
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 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia |
OMIM:610539 |
Wildervanck Syndrome |
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Meningocele |
ORPHA:3456 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Caudal Duplication |
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Myelomeningocele, Spina bifida |
ORPHA:1756 |
Humero-Radial Synostosis |
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Meningocele |
ORPHA:3265 |
Thoraco-Abdominal Enteric Duplication |
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Meningocele |
ORPHA:1759 |
Acropectorovertebral Dysplasia |
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Spina bifida |
ORPHA:957 |
Muscle-Eye-Brain Disease |
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Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Meckel Syndrome, Type 2 |
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Encephalocele, Meningocele, Anencephaly |
OMIM:603194 |
Meckel Syndrome, Type 4 |
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Encephalocele, Hydrocephalus, Meningocele, Anencephaly |
OMIM:611134 |
Sirenomelia |
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Spina bifida, Sirenomelia |
ORPHA:3169 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Peroxisome Biogenesis Disorder 3B |
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Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Squalene Synthase Deficiency |
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Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Isolated Klippel-Feil Syndrome |
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Spina bifida |
ORPHA:2345 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Anophthalmia Plus Syndrome |
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Spina bifida |
ORPHA:1104 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Chylomicron Retention Disease |
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Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
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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Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Waardenburg Syndrome Type 1 |
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Meningocele, Spina bifida |
ORPHA:894 |
Triploidy |
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Hydrocephalus, Meningocele, Holoprosencephaly |
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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Encephalocele, Hydrocephalus, Meningocele |
OMIM:614424 |
Iniencephaly |
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Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Autosomal Recessive Spondylocostal Dysostosis |
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Umbilical hernia, Meningocele, Spina bifida occulta |
ORPHA:2311 |
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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Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida |
ORPHA:1393 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:96180 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Acromelic Frontonasal Dysplasia |
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Encephalocele, Meningocele |
ORPHA:1827 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |
Abetalipoproteinemia |
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Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Lateral Meningocele Syndrome |
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Umbilical hernia, Meningocele |
ORPHA:2789 |
Neu-Laxova Syndrome 2 |
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Spina bifida |
OMIM:616038 |
Lateral Meningocele Syndrome |
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Umbilical hernia, Hydrocephalus, Meningocele |
OMIM:130720 |
Alg12-Cdg |
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Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Chromosome 17P13.1 Deletion Syndrome |
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Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Trisomy 20P |
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Umbilical hernia, Spina bifida |
ORPHA:261318 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Spina bifida |
OMIM:193500 |
Phakomatosis Pigmentokeratotica |
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Spina bifida |
ORPHA:2874 |
Vacterl With Hydrocephalus |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Cloacal Exstrophy |
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Myelomeningocele, Spina bifida |
ORPHA:93929 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Curry-Jones Syndrome |
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Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia |
OMIM:244450 |
Limb Body Wall Complex |
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Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Tangier Disease |
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Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Occipital encephalocele, Meningocele |
ORPHA:397715 |
Pagod Syndrome |
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Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
Trisomy 18 |
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Anencephaly, Holoprosencephaly, Spina bifida |
ORPHA:3380 |
Mosaic Trisomy 9 |
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Spina bifida |
ORPHA:99776 |
Nail-Patella Syndrome |
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Spina bifida |
OMIM:161200 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Occipital meningocele, Hydrocephalus, Anencephaly |
OMIM:616546 |
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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Umbilical hernia, Spina bifida |
ORPHA:2092 |
Basal Cell Nevus Syndrome 1 |
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Hydrocephalus, Spina bifida |
OMIM:109400 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Hallermann-Streiff Syndrome |
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Spina bifida |
OMIM:234100 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Meningocele |
ORPHA:1010 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Phocomelia, Schinzel Type |
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Meningocele |
ORPHA:2879 |
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 |
Neu-Laxova Syndrome 1 |
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Spina bifida, Stillbirth, Neonatal death, Small placenta, Short umbilical cord, Hydranencephaly |
OMIM:256520 |
Orofaciodigital Syndrome Vi |
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Occipital meningocele |
OMIM:277170 |
Smith-Lemli-Opitz Syndrome |
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Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia |
OMIM:270400 |
22Q11.2 Deletion Syndrome |
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Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical hernia |
ORPHA:567 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Spina bifida |
ORPHA:508498 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
Aicardi Syndrome |
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Spina bifida |
OMIM:304050 |
Campomelic Dysplasia |
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Hydrocephalus, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Jacobsen Syndrome |
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Spina bifida |
ORPHA:2308 |
Thrombocytopenia-Absent Radius Syndrome |
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Spina bifida |
OMIM:274000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hydrocephalus, Spina bifida |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hydrocephalus, Spina bifida |
ORPHA:363958 |
Fanconi Anemia |
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Umbilical hernia, Hydrocephalus, Spina bifida |
ORPHA:84 |
Knobloch Syndrome 1 |
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Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Spina bifida |
OMIM:619480 |
Arima Syndrome |
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Occipital meningocele |
OMIM:243910 |
Rubinstein-Taybi Syndrome 1 |
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Spina bifida occulta, Spina bifida |
OMIM:180849 |
Marfan Syndrome |
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Meningocele |
ORPHA:558 |
Vater/Vacterl Association |
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Occipital encephalocele, Spina bifida, Patent urachus |
OMIM:192350 |
Otopalatodigital Syndrome, Type Ii |
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Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida |
OMIM:304120 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele |
OMIM:276820 |