Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuf... |
ORPHA:412066 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Developmental And Epileptic Encephalopathy 56 |
|
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait |
OMIM:617665 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... |
OMIM:619191 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impai... |
ORPHA:401901 |
Creutzfeldt-Jakob Disease |
|
Dementia, Apathy, Irritability, Anxiety, Gait ataxia, Depression, Memory impairment |
OMIM:123400 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety, Depression |
OMIM:606438 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Agoraphobia, Torticollis, Anxiety, Depression |
OMIM:159900 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Bradykinesia, Anxiety, Depression |
OMIM:605909 |
Huntington Disease-Like 1 |
|
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression |
OMIM:603218 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Dystonia 12 |
|
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression |
OMIM:128235 |
Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Anxiety, ... |
OMIM:604326 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Progressive Supranuclear Palsy |
|
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Blepharospasm, Abnormal synaptic t... |
ORPHA:683 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... |
OMIM:246700 |
Chorea, Benign Hereditary |
|
Anxiety, Gait disturbance |
OMIM:118700 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression |
OMIM:615483 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Emotional lability, Anxiety, Gait ataxia, Depre... |
ORPHA:71517 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Leg dystonia, Agoraphobia, Fatigable weakness, Inabilit... |
ORPHA:255 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus |
ORPHA:945 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Dysmetria, Ataxia, Irritability, Mental deterioration, Anxiety, Gait ataxia, Depression |
OMIM:618093 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus |
ORPHA:1931 |
Childhood Disintegrative Disorder |
|
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Anxie... |
ORPHA:168782 |
Huntington Disease |
|
Gait disturbance, Dystonia, Gait imbalance, Bradyphrenia, Suicidal ideation, Aggressive behavior,... |
ORPHA:399 |
Perry Syndrome |
|
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Short stepped shufflin... |
OMIM:168605 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... |
ORPHA:96369 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression |
OMIM:616398 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Ataxia, Dysdiadocho... |
OMIM:615157 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Craniorachischisis |
|
Sirenomelia, Myelomeningocele, Anencephaly, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration |
OMIM:616834 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Choreoacanthocytosis |
|
Dystonia, Dementia, Aggressive behavior, Self-mutilation of tongue and lips due to involuntary mo... |
OMIM:200150 |
Caudal Duplication |
|
Spina bifida, Myelomeningocele |
ORPHA:1756 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Cognitive impairment, A... |
ORPHA:309246 |
Young-Onset Parkinson Disease |
|
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... |
ORPHA:2828 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Schisis Association |
|
Spina bifida, Anencephaly |
ORPHA:63862 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Anxiety, Leg dystonia, Blepharospasm, Bradykinesia |
OMIM:606324 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele |
OMIM:207950 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Increased circulating farnesol conc... |
OMIM:618156 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida |
OMIM:600122 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia |
OMIM:607765 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta |
ORPHA:2437 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Posterior Meningocele |
|
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele |
ORPHA:268810 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Fountain Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:3219 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Elevated circulating creatine kinase concentration, Decreased LDL cholesterol concentration, Hypo... |
ORPHA:96180 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Iniencephaly |
|
Myelomeningocele, Anencephaly, Holoprosencephaly, Spina bifida, Hydrocephalus, Spinal dysraphism |
ORPHA:63259 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Spina bifida, Myelomeningocele, Hydranencephaly |
ORPHA:1393 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Hydranencephaly |
ORPHA:2839 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Hypoalbuminemia |
OMIM:212065 |
Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
Vacterl With Hydrocephalus |
|
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis |
ORPHA:3412 |
Alg12-Cdg |
|
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia |
ORPHA:79324 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele |
OMIM:193500 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... |
ORPHA:90363 |
Cloacal Exstrophy |
|
Spina bifida, Myelomeningocele |
ORPHA:93929 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Mosaic Trisomy 9 |
|
Spina bifida |
ORPHA:99776 |
Trisomy 18 |
|
Holoprosencephaly, Spina bifida, Anencephaly |
ORPHA:3380 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Neu-Laxova Syndrome |
|
Spina bifida |
ORPHA:2671 |
Basal Cell Nevus Syndrome |
|
Spina bifida, Hydrocephalus |
OMIM:109400 |
Focal Dermal Hypoplasia |
|
Spina bifida, Umbilical hernia |
ORPHA:2092 |
Limb Body Wall Complex |
|
Short umbilical cord, Myelomeningocele, Anencephaly, Spina bifida, Hydrocephalus, Spina bifida oc... |
ORPHA:2369 |
Pagod Syndrome |
|
Meningocele, Spina bifida |
ORPHA:991 |
Hallermann-Streiff Syndrome |
|
Spina bifida |
OMIM:234100 |
Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Aqueductal stenosis |
OMIM:162200 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Hydranencephaly, Stillbirth, Small placenta, Spina bifida |
OMIM:256520 |
Smith-Lemli-Opitz Syndrome |
|
Hypocholesterolemia, Elevated 7-dehydrocholesterol |
OMIM:270400 |
Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida |
OMIM:274000 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Arrhinencephaly, Occipital myelomeningocele, Spina bifida, Hydrocephalus, Umbilical ... |
ORPHA:567 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida |
ORPHA:508498 |
Jacobsen Syndrome |
|
Spina bifida |
ORPHA:2308 |
Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Umbilical hernia |
ORPHA:84 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Hydrocephalus |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Hydrocephalus |
ORPHA:363958 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida |
OMIM:619480 |
Schinzel-Giedion Syndrome |
|
Umbilical hernia, Neural tube defect |
ORPHA:798 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93924 |
Split Cord Malformation |
|
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele |
ORPHA:573278 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Hydrocephalus |
ORPHA:322 |
Vater/Vacterl Association |
|
Patent urachus, Spina bifida |
OMIM:192350 |