Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Pancreatic Lipase Deficiency |
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Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Spina Bifida-Hypospadias Syndrome |
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Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Pandas |
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Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
Myelopathy, Htlv-1-Associated |
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Myelopathy |
OMIM:159580 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Frontal Encephalocele |
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Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
Progressive Supranuclear Palsy |
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Memory impairment, Falls, Depression, Emotional lability, Irritability, Cognitive impairment, Uns... |
ORPHA:683 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Chylomicron Retention Disease |
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Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
Hemihyperplasia, Isolated |
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Myelomeningocele |
OMIM:235000 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... |
ORPHA:3077 |
Acalvaria |
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Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Neural Tube Defects, Susceptibility To |
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Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
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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Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
Isolated Hemihyperplasia |
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Myelomeningocele |
ORPHA:2128 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida |
OMIM:211960 |
Craniorachischisis |
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Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
Subependymal Nodular Heterotopia |
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Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele |
ORPHA:101030 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia |
OMIM:610539 |
Schisis Association |
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Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
Nevus Comedonicus Syndrome |
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Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Porphyria Due To Ala Dehydratase Deficiency |
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Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... |
ORPHA:100924 |
Chiari Malformation Type Ii |
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Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida |
OMIM:207950 |
Caudal Duplication |
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Myelomeningocele, Spina bifida |
ORPHA:1756 |
Wildervanck Syndrome |
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Meningocele |
ORPHA:3456 |
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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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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Hydrocephalus, Meningocele, Anencephaly, Encephalocele |
OMIM:611134 |
Sirenomelia |
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Sirenomelia, Spina bifida |
ORPHA:3169 |
Aminopterin/Methotrexate Embryofetopathy |
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Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly |
ORPHA:1908 |
Gm2 Gangliosidosis, Ab Variant |
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Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
Peroxisome Biogenesis Disorder 3B |
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Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia |
OMIM:266510 |
Isolated Klippel-Feil Syndrome |
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Spina bifida |
ORPHA:2345 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
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Spina bifida |
OMIM:620439 |
Squalene Synthase Deficiency |
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Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic... |
OMIM:618156 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia |
OMIM:607765 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
Anophthalmia Plus Syndrome |
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Spina bifida |
ORPHA:1104 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Congenital Disorder Of Glycosylation, Type Il |
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Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
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, Spina bifida, Hydrocephalus |
ORPHA:2437 |
Waardenburg Syndrome Type 1 |
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Meningocele, Spina bifida |
ORPHA:894 |
Sacral Defect With Anterior Meningocele |
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Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
Chylomicron Retention Disease |
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Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
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 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Amish Lethal Microcephaly |
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Spina bifida |
ORPHA:99742 |
Joubert Syndrome 14 |
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Hydrocephalus, Meningocele, Encephalocele |
OMIM:614424 |
Iniencephaly |
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Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holoprosencephal... |
ORPHA:63259 |
Autosomal Recessive Spondylocostal Dysostosis |
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Spina bifida occulta, Meningocele, Umbilical hernia |
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 |
Fliedner-Zweier Syndrome |
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Meningocele |
OMIM:620511 |
Cerebrocostomandibular Syndrome |
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Myelomeningocele, Hydranencephaly, Spina bifida, Meningocele |
ORPHA:1393 |
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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Hydrocephalus, Hydranencephaly, Spina bifida |
ORPHA:2839 |
Acromelic Frontonasal Dysplasia |
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Meningocele, Encephalocele |
ORPHA:1827 |
Abetalipoproteinemia |
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Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypoalbuminemia, Hypocholesterolemia, Steatorrhea |
OMIM:212065 |
Lateral Meningocele Syndrome |
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Meningocele, Umbilical hernia |
ORPHA:2789 |
Neu-Laxova Syndrome 2 |
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Spina bifida |
OMIM:616038 |
Lateral Meningocele Syndrome |
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Meningocele, Hydrocephalus, Umbilical hernia |
OMIM:130720 |
Alg12-Cdg |
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Hyponatremia, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
Chromosome 17P13.1 Deletion Syndrome |
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Hydrocephalus, Spina bifida, Umbilical hernia |
OMIM:613776 |
Pituitary Adenoma 4, Acth-Secreting |
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Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
Trisomy 20P |
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Spina bifida, Umbilical hernia |
ORPHA:261318 |
Phakomatosis Pigmentokeratotica |
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Spina bifida |
ORPHA:2874 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Spina bifida |
OMIM:193500 |
Secondary Intestinal Lymphangiectasia |
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Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
Cloacal Exstrophy |
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Myelomeningocele, Spina bifida |
ORPHA:93929 |
Vacterl With Hydrocephalus |
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Hydrocephalus, Aqueductal stenosis, Spina bifida |
ORPHA:3412 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia |
OMIM:244450 |
Curry-Jones Syndrome |
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Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Limb Body Wall Complex |
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Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Hydrocephalus, Spina bifida ... |
ORPHA:2369 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Meningocele, Occipital encephalocele |
ORPHA:397715 |
Tangier Disease |
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Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Pagod Syndrome |
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Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
Trisomy 18 |
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Holoprosencephaly, Anencephaly, 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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Anencephaly, Hydrocephalus, Occipital meningocele |
OMIM:616546 |
Lathosterolosis |
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Meningocele |
ORPHA:46059 |
Dubowitz Syndrome |
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Hypocholesterolemia |
OMIM:223370 |
Fibular Hemimelia |
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Spina bifida |
ORPHA:93323 |
Neu-Laxova Syndrome |
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Spina bifida |
ORPHA:2671 |
Focal Dermal Hypoplasia |
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Spina bifida, Umbilical hernia |
ORPHA:2092 |
Basal Cell Nevus Syndrome 1 |
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Hydrocephalus, Spina bifida |
OMIM:109400 |
Hallermann-Streiff Syndrome |
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Spina bifida |
OMIM:234100 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353281 |
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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Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... |
OMIM:610828 |
Neurofibromatosis, Type I |
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Hydrocephalus, Aqueductal stenosis, Spina bifida |
OMIM:162200 |
Smith-Lemli-Opitz Syndrome |
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Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration |
OMIM:270400 |
Neu-Laxova Syndrome 1 |
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Hydranencephaly, Small placenta, Short umbilical cord, Neonatal death, Spina bifida, Stillbirth |
OMIM:256520 |
Orofaciodigital Syndrome Vi |
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Occipital meningocele |
OMIM:277170 |
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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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353277 |
Aicardi Syndrome |
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Spina bifida |
OMIM:304050 |
Campomelic Dysplasia |
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Hydrocephalus, Spinal dysraphism, Spina bifida |
OMIM:114290 |
Jacobsen Syndrome |
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Spina bifida |
ORPHA:2308 |
22Q11.2 Deletion Syndrome |
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Hydrocephalus, Meningocele, Spina bifida, Umbilical hernia |
ORPHA:567 |
Knobloch Syndrome 1 |
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Spina bifida occulta, Occipital encephalocele, Occipital meningocele |
OMIM:267750 |
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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Hydrocephalus, Spina bifida, Umbilical hernia |
ORPHA:84 |
Thrombocytopenia-Absent Radius Syndrome |
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Spina bifida |
OMIM:274000 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Spina bifida, Neonatal death |
OMIM:614437 |
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 |
Vater/Vacterl Association |
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Patent urachus, Occipital encephalocele, Spina bifida |
OMIM:192350 |
Rubinstein-Taybi Syndrome 1 |
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Spina bifida occulta, Spina bifida |
OMIM:180849 |
Holoprosencephaly 9 |
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Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus |
OMIM:610829 |
Otopalatodigital Syndrome, Type Ii |
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Hydrocephalus, Stillbirth, Spina bifida, Umbilical hernia |
OMIM:304120 |
Marfan Syndrome |
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Meningocele |
ORPHA:558 |
Femoral-Facial Syndrome |
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Encephalocele, Spina bifida |
OMIM:134780 |
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 |