Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... |
ORPHA:500166 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... |
ORPHA:275864 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:209850 |
Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Pachygyria, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Emotional lability, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Microcephaly, Cortical dysplasia, Attention deficit hyperactivity disorder, Abnormal repetitive m... |
OMIM:618709 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... |
OMIM:608636 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Frontotemporal dementia, Irritability, Disinhibition, Inappropria... |
OMIM:172700 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly, Aggressive behavior, Overfriendliness |
OMIM:618010 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Frontotemporal dementia, Disinhibition, Dysphagia, Emotional labil... |
OMIM:612069 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Thoraco-Abdominal Enteric Duplication |
|
Diastomatomyelia, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Microcephaly, Aggressive behavior, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... |
ORPHA:208441 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Foxg1 Syndrome |
|
Agenesis of corpus callosum, Progressive microcephaly, Hypoplasia of the corpus callosum, Bruxism... |
ORPHA:561854 |
N-Acetylaspartate Deficiency |
|
Short attention span, Microcephaly, Secondary microcephaly, Abnormal repetitive mannerisms, Self-... |
OMIM:614063 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Microcephaly, Cortical dysplasia, Self-injurious behavior, Secondary microcephaly, Hypoplasia of ... |
OMIM:615282 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Impaired social interactions, Hypoplasia of the corpus callosum, Abnorma... |
OMIM:617820 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... |
OMIM:604213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Hypoplasia of the corpus callosum, Dysphagia, Recurrent hand flapping, Abnormal repetitive manner... |
OMIM:617862 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Hyperactivity, Cerebral white matter atrophy |
ORPHA:599373 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms, Progressive microcephaly, Microcephaly |
OMIM:620033 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Microcephaly, Aggressive behavior, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms |
OMIM:619150 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Secondary microcephaly, Abnormal repetitive mannerisms, Cerebral atrophy |
OMIM:617393 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Microcephaly, Simplified gyral pattern, Periventricular white... |
OMIM:619470 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Secondary microcephaly |
OMIM:617830 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Attention deficit hyperactivity disorder, Hypoplasia of the corpus callosum... |
ORPHA:444002 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Caudal Duplication |
|
Cryptorchidism, Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Hsd10 Disease |
|
Short attention span, Microcephaly, Frontotemporal cerebral atrophy, Dysphagia, Abnormal social b... |
ORPHA:391417 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Depression, Abnormal cerebral white matter morphology, Dementia, Progressive la... |
ORPHA:79264 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Thin corpus callosum, Cerebral atrophy |
OMIM:619690 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Pontocerebellar Hypoplasia, Type 11 |
|
Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Attention deficit hyperact... |
OMIM:617695 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Microcephaly, Shyness, Hypoplasia of the corpus callosum, Abnormal periventricular white matter m... |
ORPHA:280763 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia,... |
OMIM:607485 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Irritability, Self... |
ORPHA:449291 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Microcephaly, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Pa... |
OMIM:618718 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Secondary microc... |
OMIM:620242 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Microcephaly, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Progressive neurologic deterioration, Cerebral dysmyelination, Microc... |
OMIM:252650 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Microcephaly, Repetitive compulsive behavior, Compulsive behaviors, Attention defi... |
ORPHA:352490 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Cortical dysplasia, Progressive language deterioration, Atten... |
OMIM:610042 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... |
ORPHA:171680 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Microcephaly, Irritability, Abnormal cerebral white matter mo... |
ORPHA:391307 |
Xq28 (MECP2) duplication |
|
Microcephaly, Depression, Hypoplasia of the corpus callosum, Dysphagia, Abnormal repetitive manne... |
DECIPHER:45 |
Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia,... |
ORPHA:268810 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Neurofibrillary tangles, Dementia, Agitation, Disinhibition, Semantic dementia, Memory... |
ORPHA:1020 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Short attention span, Partial agenesis of the corpus callosum, Delayed early-childhood social mil... |
ORPHA:300570 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Impulsivity, Aggressive behavior, Microcephaly, Tongue thrusting, Thin corp... |
OMIM:619580 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Confusion, Microcephaly, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive... |
ORPHA:927 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Aggressive behavior, Microcephaly, Attention deficit hyperac... |
OMIM:618342 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Microcephaly, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Lopes-Maciel-Rodan Syndrome |
|
Caudate atrophy, Bruxism, Cerebral atrophy, Agitation, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Cerebral atrophy, Motor deterioratio... |
ORPHA:168491 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Microcephaly |
OMIM:618906 |
Christianson Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Inappropriate laughter, Dysphagia, Abnor... |
ORPHA:85278 |
Bilateral Generalized Polymicrogyria |
|
Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter abnormalities, Self-injurious behav... |
ORPHA:208447 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal cerebral white matter morphology, Abnormal periventricular white matter morphology, Abno... |
OMIM:613443 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Globus pallidus calcification, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:620292 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Attention deficit hyperactivity di... |
OMIM:620141 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate behavior, Cognitive impairment, P... |
ORPHA:309246 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebral atrophy, Self-injurious behavior, Progressive microcephaly, Compulsive behaviors, Abnorm... |
OMIM:618917 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608049 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Microcephaly, Inappropriate laughter, Abnormal repetitive mannerisms, Cerebral cor... |
OMIM:614104 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Memory impairment, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt... |
OMIM:619737 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... |
OMIM:619103 |
Baker-Gordon Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... |
OMIM:600145 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia,... |
ORPHA:228402 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Hypoplasia of ... |
ORPHA:2524 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Periventricular leukomalacia, Tics, Attention deficit hyperactivi... |
OMIM:617808 |
Choreoacanthocytosis |
|
Caudate atrophy, Compulsive behaviors, Small basal ganglia, Self-mutilation of tongue and lips du... |
ORPHA:2388 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Triploidy |
|
Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly... |
ORPHA:3376 |
Rett Syndrome, Congenital Variant |
|
Tongue thrusting, Simplified gyral pattern, Irritability, Hypoplasia of the corpus callosum, Brux... |
OMIM:613454 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Microcephaly, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetit... |
ORPHA:530983 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Low frustration tolerance, Attention deficit hyperactivity disorder, Abnormal repetitive manneris... |
OMIM:619293 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Pol... |
OMIM:617751 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Cerebral cortical atrophy, Hypoplasia of the corpus callosum |
ORPHA:85277 |
Lateral Meningocele Syndrome |
|
Tethered cord, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus ar... |
OMIM:130720 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Microcephaly |
OMIM:618347 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Microcephaly, Abnormal repetitive mannerisms, Self-mutilation, Depression |
ORPHA:457240 |
Neurocutaneous Melanocytosis |
|
Meningocele, Syringomyelia |
ORPHA:2481 |
4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms |
ORPHA:238750 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology, Hydrocephalus |
ORPHA:99947 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute... |
ORPHA:1393 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Microcephaly, Repetitive compulsive behavior, Dysphagia, Depression, Hostility, Bruxism, Abnormal... |
OMIM:300260 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Thin corpus callosum, Abnormal repetitive mannerisms, Simplified gyral pattern, Microcephaly |
OMIM:619877 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern, Dysphagia |
OMIM:620001 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... |
OMIM:616900 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Cryptorchidism, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida oc... |
ORPHA:2311 |
Cri-Du-Chat Syndrome |
|
Short attention span, Hyperactivity, Aggressive behavior, Microcephaly, Abnormal repetitive manne... |
OMIM:123450 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... |
OMIM:618914 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Microcephaly, Attention deficit hyperactivity disorder, Abnormal periventricular white matter mor... |
OMIM:619725 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Aggressive behavior, Dysplastic corpus... |
ORPHA:488627 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, D... |
ORPHA:98784 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum |
ORPHA:411986 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Cryptorchidism, Meningocele, Dural ectasia, Syringomyelia, Umbilical h... |
ORPHA:2789 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Secondary microcephaly, Hypoplasia of the corpus callosum, Attent... |
OMIM:620073 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Microcephaly, Oral-pharyngeal dysphagia, Hypoplasia of the corpus callosum, Abnorm... |
OMIM:610883 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... |
OMIM:182290 |
Houge-Janssens Syndrome 3 |
|
Microcephaly, Self-injurious behavior, Hypoplasia of the corpus callosum, Attention deficit hyper... |
OMIM:618354 |
5Q14.3 Microdeletion Syndrome |
|
Frontal cortical atrophy, Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum |
ORPHA:228384 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... |
OMIM:600430 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Microcephaly, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive ... |
OMIM:617796 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Microcephaly, Agenesis of corpus callosum, Attention deficit hy... |
OMIM:619312 |
Developmental And Epileptic Encephalopathy 64 |
|
Microcephaly, Self-injurious behavior, Hypoplasia of the corpus callosum, Bruxism, Abnormal repet... |
OMIM:618004 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Low... |
ORPHA:457279 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Aggressive behavior, Self-injurious behavior, Secondary microcephaly, Attention deficit hyperacti... |
OMIM:300986 |
Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Compulsive ... |
OMIM:613174 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
48,Xxyy Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression |
ORPHA:10 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Dysphagia, Pachygyria, Abnormal repetitive mannerisms, Th... |
ORPHA:572013 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Microcephaly, Abnormal repetitive mannerisms, Cerebral atrophy, Inappropriate laughter, Hypoplasi... |
OMIM:615802 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Irritability, Secondary microcephaly, Hypoplasia of the corpus callo... |
ORPHA:447997 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Microcephaly, Aggressive behavior, Self-biting, Abnormal repetitive mannerisms |
ORPHA:3306 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Dysphagia, Abnormal repetitive... |
OMIM:617802 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum |
OMIM:614833 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Secondary m... |
OMIM:300912 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Syr... |
ORPHA:63259 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Microcephaly, Cerebral atrophy, Self-injurious behavior, Irri... |
OMIM:616364 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect |
OMIM:614424 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Microcephaly, Aggressive behavior, Perisylvian polymicrogyria, Hypoplasia of the corpus callosum,... |
OMIM:619121 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Abnormal repetitive mannerisms, Thin corpus callosum, Reduced cerebral white matter volume, Micro... |
OMIM:617807 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... |
ORPHA:309271 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Abnormal repetitive mannerisms, Microcephaly |
OMIM:619092 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Snijders Blok-Campeau Syndrome |
|
Abnormal repetitive mannerisms, Thin corpus callosum, Attention deficit hyperactivity disorder |
OMIM:618205 |
Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Dysphagia, Agenesis of corpus c... |
OMIM:619435 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Microcephaly, Self-injurious behavior, Compulsive behaviors, Dysphagia, Atte... |
OMIM:617061 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Se... |
ORPHA:544488 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Compulsive behaviors... |
OMIM:615656 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Microcephaly, Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology... |
ORPHA:500159 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Microcephaly, Aggressive behavior, Hypoplasia of the corpus callosum, Attention deficit hyperacti... |
OMIM:300352 |
Developmental And Epileptic Encephalopathy 6B |
|
Abnormal repetitive mannerisms |
OMIM:619317 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Emotional lability, Abnormal social ... |
ORPHA:309263 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Microcephaly, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Bruxi... |
OMIM:616393 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Agenesis of corpus callosum, Abnormal repetitive mannerisms, Microcephaly |
ORPHA:261144 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Cryptorch... |
ORPHA:99776 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Smith-Magenis Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Self-injurious behavior, Attention defic... |
ORPHA:819 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors, M... |
ORPHA:1727 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:618430 |
Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms |
OMIM:618067 |
Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Microcephaly, Lateral ventricle dilatation, Agitation, Secondary microcepha... |
OMIM:619229 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Self-mutilation, Abnormal repetitive mannerisms, Low frustration tolerance |
OMIM:300486 |
48,Xxxy Syndrome |
|
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... |
ORPHA:96263 |
Prader-Willi Syndrome Due To Translocation |
|
Microcephaly, Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Skin-picking,... |
ORPHA:177907 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart, Abnorma... |
ORPHA:991 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Secondary microcephaly, Bruxism |
OMIM:616351 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Cerebral cortical atrophy, Microcephaly |
OMIM:619428 |
Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Microcephaly... |
ORPHA:319182 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... |
ORPHA:357058 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Microcephaly, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Microcephaly, Tongue thrusting, Impaired social interactions, Bruxism, Abnor... |
OMIM:606232 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Attent... |
OMIM:619575 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:301094 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Abnormal repetitive mannerisms, Attention deficit hyperactivity di... |
ORPHA:435638 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Secondary microcephaly, Attention deficit hyperactivity disorder, Compulsive... |
ORPHA:476126 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Cerebral calcification, Microcephaly, Basal ganglia calcification, Dysplastic corp... |
OMIM:617281 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Cryptorchidism, Meningocele |
ORPHA:1827 |
Lumbar Syndrome |
|
Cryptorchidism, Myelomeningocele, Spina bifida |
ORPHA:83628 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... |
ORPHA:261197 |
Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Atrial s... |
ORPHA:3380 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Head-banging, Microcephaly |
OMIM:618569 |
Kleefstra Syndrome |
|
Aggressive behavior, Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Cereb... |
ORPHA:261494 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microcephaly, Abnormal repetitive mannerisms, Cortical dysplasia, Simplified gyral pattern, Cereb... |
ORPHA:468631 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior, Punctate periventricular T2 hyperintense foci |
ORPHA:309256 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors, M... |
ORPHA:1001 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
Fg Syndrome Type 1 |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors, Aplasia... |
ORPHA:93932 |
Cerebrofacioarticular Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, Hypoplasia of the corpus callo... |
ORPHA:314679 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Cerebral atrophy... |
ORPHA:646 |
Bainbridge-Ropers Syndrome |
|
Microcephaly, Self-injurious behavior, Lateral ventricle dilatation, Hypoplasia of the corpus cal... |
OMIM:615485 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation |
ORPHA:3412 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Microcephaly, Self-injurious behavior, Hypoplasia of the corpus callosum, Primary microcephaly, A... |
ORPHA:457351 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Microcephaly, Self-injurious behavior, Subcortical cerebral a... |
ORPHA:468678 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocele testis, Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... |
ORPHA:573278 |
Trisomy 20P |
|
Macroorchidism, Umbilical hernia, Spina bifida, Cryptorchidism |
ORPHA:261318 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... |
ORPHA:2092 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Hyperactivity, Short attention span, Impulsivity, Aggressive behavior, Micr... |
OMIM:619475 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Microcephaly, Partial agenesis of the corpus callosum, Self-injurious behavior, Ag... |
OMIM:619512 |
Phakomatosis Pigmentokeratotica |
|
Cryptorchidism, Spina bifida |
ORPHA:2874 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Microcephaly, Hair-pulling, Polyphagia, Self-injurious behavior... |
OMIM:620330 |
Rett Syndrome |
|
Stereotypical hand wringing, Agitation, Primary microcephaly, Abnormal repetitive mannerisms, Pro... |
ORPHA:778 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Kleefstra Syndrome 1 |
|
Microcephaly, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tethered cord, Ventricular septal defect, Spina bifida, Patent ductus ar... |
OMIM:192350 |
Niemann-Pick Disease, Type C2 |
|
Neurofibrillary tangles, Dementia, Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Occipital meningocele, Hydrocephalus, Anencephaly |
OMIM:616546 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tethered cord, Spina bifida |
OMIM:619480 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Irritability, Lateral ventricle dilatatio... |
OMIM:615873 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Microcephaly, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... |
OMIM:212066 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Cortical dysplas... |
ORPHA:805 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Microcephaly, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dysphagia, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary microcephaly, Abnor... |
ORPHA:496641 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Cerebral atrophy, Irritability, Hyperintensity of cerebral white matter on MRI, Abn... |
ORPHA:1675 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Cryptorchidism, Patent ductus arteriosus, Stillbirth, Sh... |
OMIM:256520 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Microcephaly, Shyness, Cerebral atrophy, Attention deficit hyperactivity disorder, A... |
OMIM:301030 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum |
OMIM:618810 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... |
ORPHA:508498 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Cryptorchidism, Hyd... |
ORPHA:567 |
Monosomy 22Q13.3 |
|
Hair-pulling, Hyperactivity, Agenesis of corpus callosum, Bruxism |
ORPHA:48652 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Nmda Receptor Encephalitis |
|
Short attention span, Confusion, Hypersexuality, Depression, Agitation, Memory impairment, Mania,... |
ORPHA:217253 |
Pitt-Hopkins Syndrome |
|
Microcephaly, Self-injurious behavior, Secondary microcephaly, Hypoplasia of the corpus callosum,... |
OMIM:610954 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Syringomyelia, Atrial septal d... |
OMIM:274000 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Simplified gyral pattern, Self-inj... |
ORPHA:96121 |
Fanconi Anemia |
|
Spina bifida, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Azoospermia, Abnormal card... |
ORPHA:84 |
Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:2671 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Microcephaly |
ORPHA:2479 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Testicular neoplasm, Cryptorchidi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Testicular neoplasm, Cryptorchidi... |
ORPHA:363958 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Atten... |
OMIM:618820 |
Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
Jacobsen Syndrome |
|
Ventricular septal defect, Spina bifida, Cryptorchidism, Hypoplastic left heart, Intrauterine gro... |
ORPHA:2308 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele |
ORPHA:397715 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Cryptorchidism, Abnormal spinal cord morphology, Dysplastic tricuspid ... |
ORPHA:1724 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Repetitive compulsive behavior, Self-biting, Hemiballismus, Abnormal repetitive mannerisms, Self-... |
ORPHA:522077 |
Mucopolysaccharidosis Type 2 |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det... |
ORPHA:580 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Hypoplastic left heart |
OMIM:277170 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Spina bifida |
OMIM:234100 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal cortical gyration, Aggressive behavior, Memory impairment, Abnormal social behavior, Cer... |
ORPHA:314647 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Microcephaly, Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Abnorm... |
ORPHA:464311 |
Developmental And Epileptic Encephalopathy 100 |
|
Cerebral atrophy, Thin corpus callosum, Dysphagia, Pachygyria, Abnormal repetitive mannerisms, Po... |
OMIM:619777 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder |
OMIM:619005 |
Phocomelia, Schinzel Type |
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Intrauterine growth retardation, Meningocele, Cryptorchidism |
ORPHA:2879 |
Developmental And Epileptic Encephalopathy 2 |
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Abnormal repetitive mannerisms, Progressive microcephaly |
OMIM:300672 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum, Attention deficit hyperactivity disorder |
OMIM:619426 |
Marfan Syndrome |
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Mitral valve calcification, Meningocele, Dural ectasia, Mitral valve prolapse |
ORPHA:558 |
Joubert Syndrome 6 |
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Abnormal repetitive mannerisms |
OMIM:610688 |
Acute Disseminated Encephalomyelitis |
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Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:508533 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Abnormal repetitive mannerisms, Cerebral atrophy, Microcephaly |
OMIM:301040 |
Campomelic Dysplasia |
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Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Adrenomyeloneuropathy |
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Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Short attention span, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:301066 |
Tetrasomy 9P |
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Pericarditis, Dextrocardia, Cryptorchidism, Hydrocephalus, Abnormal spinal cord morphology, Oligo... |
ORPHA:3310 |
Rubinstein-Taybi Syndrome 1 |
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Ventricular septal defect, Spina bifida, Bilateral cryptorchidism, Cryptorchidism, Patent ductus ... |
OMIM:180849 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hyperactivity, Microcephaly, Hypoplasia of the corpus callosum, Primary microcephaly, Abnormal re... |
ORPHA:464306 |
Kinsship Syndrome |
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Primary microcephaly, Microcephaly, Abnormal repetitive mannerisms, Bruxism |
OMIM:619297 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Meningocele |
ORPHA:1010 |
Mend Syndrome |
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Hyperactivity, Abnormal social behavior, Hypoplasia of the corpus callosum, Aggressive behavior |
ORPHA:401973 |
Knobloch Syndrome 1 |
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Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Aicardi Syndrome |
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Spina bifida |
OMIM:304050 |
Exstrophy-Epispadias Complex |
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Cryptorchidism, Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Lenz-Majewski Hyperostotic Dwarfism |
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Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:151050 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Shyness, Aggressive behavior, Dysplastic corpus callosum, Pseudobulbar paralysis, Hypoplasia of t... |
ORPHA:466791 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618653 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dysplastic corpus callosum, Thick corpus callosum, Impulsivity, Aggressive behavior |
OMIM:300967 |
Oculocerebrorenal Syndrome Of Lowe |
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Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord... |
ORPHA:534 |
Ogden Syndrome |
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Microcephaly, Cerebral atrophy, Irritability, Dysphagia, Abnormal repetitive mannerisms |
OMIM:300855 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Microcephaly, Repetitive compulsive behavior, Stereotypical body rocking, Hypoplasia of the corpu... |
ORPHA:513456 |
1P36 Deletion Syndrome |
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Microcephaly, Polyphagia, Self-injurious behavior, Agenesis of corpus callosum, Dysphagia, Abnorm... |
ORPHA:1606 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hyperactivity, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal repeti... |
OMIM:309590 |
Otopalatodigital Syndrome, Type Ii |
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Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
Zttk Syndrome |
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Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos... |
OMIM:617140 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, Abnormal cerebral white matter m... |
ORPHA:500150 |
Superficial Siderosis |
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Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Hyperactivity, Aggressive behavior, Hippocampal atrophy, Attention deficit hyperactivity disorder... |
OMIM:614756 |
Amoebiasis Due To Free-Living Amoebae |
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Myocardial necrosis, Abnormal spinal cord morphology |
ORPHA:68 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Microcephaly, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617330 |
Wolf-Hirschhorn Syndrome |
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Absent septum pellucidum, Microcephaly, Abnormal repetitive mannerisms, Periventricular cysts, Ca... |
OMIM:194190 |
Witteveen-Kolk Syndrome |
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Hyperactivity, Aggressive behavior, Microcephaly, Dysplastic corpus callosum, Cortical dysplasia,... |
OMIM:613406 |
Arboleda-Tham Syndrome |
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Primary microcephaly, Microcephaly, Abnormal repetitive mannerisms, Dysphagia |
OMIM:616268 |
Arima Syndrome |
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Occipital meningocele |
OMIM:243910 |
Norrie Disease |
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Microcephaly, Irritability, Self-injurious behavior, Attention deficit hyperactivity disorder, Ab... |
ORPHA:649 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:301044 |
Williams Syndrome |
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Atrophy/Degeneration involving the corticospinal tracts, Microcephaly, Depression, Compulsive beh... |
ORPHA:904 |
Primrose Syndrome |
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Restlessness, Cerebral calcification, Aggressive behavior, Self-injurious behavior, Tics, Attenti... |
OMIM:259050 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Focal hypointensity of cerebral white matter on MRI, Bruxism, Large basal ganglia, Agenesis of co... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Focal cortical dysplasia, Microcephaly, Abnormal repetitive mannerisms, Bruxism, Large basal gang... |
ORPHA:2152 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Self-injurious behavior, Abnormal repetitive mannerisms, Microcephaly |
OMIM:612474 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Focal hypointensity of cerebral white matter on MRI, Bruxism, Large basal ganglia, Hypoplastic an... |
ORPHA:261552 |
Coffin-Siris Syndrome 12 |
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Hippocampal atrophy, Abnormal repetitive mannerisms, Microcephaly |
OMIM:619325 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Microcephaly, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia |
OMIM:619522 |
Lowe Oculocerebrorenal Syndrome |
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Abnormal repetitive mannerisms, Periventricular cysts, Aggressive behavior |
OMIM:309000 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Abnormal repetitive mannerisms, Microcephaly |
OMIM:616682 |
Primary Sjögren Syndrome |
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Abnormal spinal cord morphology |
ORPHA:289390 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele, Cryptorchidism |
OMIM:276820 |
Retinitis Pigmentosa 89 |
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Bicuspid aortic valve |
OMIM:618955 |