| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:618830 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Short attention span, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Comp... |
ORPHA:500166 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608631 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Mental deterioration, Memory impairment, Frontotemporal cerebral atrophy, I... |
ORPHA:275864 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:607373 |
| Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:209850 |
| Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Pachygyria, Motor stereotypy, Reduced social reciprocity |
OMIM:606053 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal corpus callosum morphology, Microcephaly, Attention deficit hyperactivity disorder, Cort... |
OMIM:618709 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation |
OMIM:617171 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... |
OMIM:608636 |
| Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion... |
OMIM:172700 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect |
ORPHA:2476 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Emotional lability, Disinhibition, Frontotemporal dementia, Dyspha... |
OMIM:612069 |
| Childhood Disintegrative Disorder |
|
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... |
ORPHA:168782 |
| Foxg1 Syndrome |
|
Abnormal corpus callosum morphology, Bruxism, Reduced social reciprocity, Stereotypical hand wrin... |
ORPHA:561854 |
| Thoraco-Abdominal Enteric Duplication |
|
Diastomatomyelia, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior, Microcephaly, Deliri... |
ORPHA:208441 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300425 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Reduced so... |
OMIM:617820 |
| N-Acetylaspartate Deficiency |
|
Secondary microcephaly, Short attention span, Self-mutilation, Microcephaly, Motor stereotypy |
OMIM:614063 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosu... |
OMIM:615282 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebral cortical atrophy, Recurrent hand flapping, Hypoplasia of the corpus callosum, Progressiv... |
OMIM:617862 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hypoplasia of the corpus cal... |
OMIM:604213 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Cerebral cortical atrophy, Memory impairment, Inappropriate behavior, Disinhibition, Aggressive b... |
OMIM:600795 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy, Hyperactivity |
ORPHA:599373 |
| Developmental And Epileptic Encephalopathy 107 |
|
Microcephaly, Progressive microcephaly, Motor stereotypy |
OMIM:620033 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... |
OMIM:613670 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... |
OMIM:620317 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Bruxism, Inappropriate laughter, Microcephaly, Aggressive behavior, Motor stereotypy |
OMIM:619150 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Secondary microcephaly, Motor stereotypy, Cerebral atrophy, Irritability |
OMIM:617393 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Periventricular white matter hyperintensities, Aggressive behavior, Microcephaly, Hyperactivity, ... |
OMIM:619470 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
| Developmental And Epileptic Encephalopathy 58 |
|
Secondary microcephaly, Motor stereotypy |
OMIM:617830 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder... |
ORPHA:444002 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy |
OMIM:617270 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Cerebral atrophy, Focal T2 hyperintense basal ganglia lesion, Emotional lability, Abn... |
ORPHA:79264 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Thin corpus callosum, Motor stereotypy, Cerebral atrophy |
OMIM:619690 |
| Hsd10 Disease |
|
Frontotemporal cerebral atrophy, Short attention span, Focal white matter lesions, Microcephaly, ... |
ORPHA:391417 |
| Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcep... |
OMIM:617695 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... |
ORPHA:1908 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebral cortical atrophy, Abnormal periventricular white matter morphology, Hypoplasia of the co... |
ORPHA:280763 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Atrial septal defect, ... |
OMIM:611134 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... |
ORPHA:449291 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Bruxism, Motor stereotypy, Microcephaly, Hyperactivity, Paroxysmal burst... |
OMIM:618718 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Depression, Secondary microcephaly, Short attention span, Hypoplasia of the corpus callosum, Aggr... |
OMIM:620242 |
| Chromosome 3Q29 Deletion Syndrome |
|
Aggressive behavior, Microcephaly, Motor stereotypy, Hyperactivity |
OMIM:609425 |
| Schisis Association |
|
Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Mucolipidosis Iv |
|
Progressive neurologic deterioration, Microcephaly, Dysplastic corpus callosum, Cerebral dysmyeli... |
OMIM:252650 |
| Subependymal Nodular Heterotopia |
|
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele |
ORPHA:101030 |
| Weiss-Kruszka Syndrome |
|
Dysplastic corpus callosum |
ORPHA:502430 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300495 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... |
ORPHA:1120 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Microcephaly, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... |
ORPHA:352490 |
| Xq28 (MECP2) duplication |
|
Depression, Hypoplasia of the corpus callosum, Microcephaly, Dysphagia, Motor stereotypy |
DECIPHER:45 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Focal cortical dysplasia, Reduced social reciprocity, Aggressive behavior, Attention deficit hype... |
OMIM:610042 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Ventricular septal defect |
ORPHA:2345 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Irritability, Aggressive behavior, Microcephaly, Abnormal cere... |
ORPHA:391307 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of c... |
ORPHA:171680 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Small basal ganglia, Large b... |
ORPHA:300570 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Confusion, Emotional lability, Microcephaly, Cognitive impairment, Delirium, Motor stereotypy, Ag... |
ORPHA:927 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Bruxism, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, Mic... |
OMIM:618342 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Recurrent hand flapping, Short attention span, Emotional lability, Aggressive behavior, Attention... |
OMIM:619580 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Confusion, Disinhibition, ... |
ORPHA:1020 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... |
ORPHA:101039 |
| Isolated Posterior Meningocele |
|
Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Tethered co... |
ORPHA:268810 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Cerebral atrophy, Obsessive-compulsive trait, Low frustration tolerance, Pe... |
ORPHA:168491 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebral atrophy, Bruxism, Caudate atrophy, Dysphagia, Motor stereotypy, Agitation |
OMIM:617435 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Microcephaly, Motor stereotypy, Hyperactivity |
OMIM:615541 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Diffuse white matter abnormalities, Lateral ventricle dilatation, Oral-p... |
ORPHA:208447 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Globus pallidus calcification, Aggressive behavior, Attention deficit hyperactivity disorder, Hyp... |
OMIM:620292 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Microcep... |
OMIM:620141 |
| Christianson Syndrome |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Inappropriate laughter, Mic... |
ORPHA:85278 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal cerebral white matter morphology, Abnormal periventricular white matter morphology, Moto... |
OMIM:613443 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Cerebral atrophy, Stereotypical hand wringing, Progressive microcephaly,... |
OMIM:618917 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Microcephaly, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618906 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Gm2 Gangliosidosis, Ab Variant |
|
Punctate periventricular T2 hyperintense foci, Abnormal fear-induced behavior, Cerebral atrophy, ... |
ORPHA:309246 |
| Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Aggressive behavior, Microcephaly, Overfriendliness |
OMIM:618010 |
| Sirenomelia |
|
Sirenomelia, Spina bifida |
ORPHA:3169 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608049 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Cerebral cortical atrophy, Inappropriate laughter, Stereotypical hand wringing, Microcephaly, Hyp... |
OMIM:614104 |
| Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele |
OMIM:603194 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Secondary microcephaly, Memory impairment, Periventricular white matt... |
OMIM:619737 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Meningocele, Tethered cord, Ventricular septal defect |
OMIM:620511 |
| Shukla-Vernon Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity |
OMIM:301029 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Motor stereotypy |
OMIM:618218 |
| Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
| Primary Dystonia, Dyt13 Type |
|
Motor stereotypy |
ORPHA:98807 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Focal polymicrogyria, Frequent temper tantrums, Dysplastic corpus callosum, Microce... |
OMIM:619103 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Motor stereotypy, Microcephaly, Hyperactivity, Paroxysmal bu... |
ORPHA:228402 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Dextrocardia, Spina bifida occulta |
ORPHA:2437 |
| Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Oral-pharyngeal dysphagia, Hypoplasia of the corpus callosum, Dysplas... |
ORPHA:2524 |
| Rett Syndrome, Congenital Variant |
|
Bruxism, Reduced social reciprocity, Irritability, Hypoplasia of the corpus callosum, Tongue thru... |
OMIM:613454 |
| Choreoacanthocytosis |
|
Mental deterioration, Lateral ventricle dilatation, Emotional lability, Hair-pulling, Frontal cor... |
ORPHA:2388 |
| Coffin-Siris Syndrome 6 |
|
Tics, Attention deficit hyperactivity disorder, Motor stereotypy, Periventricular leukomalacia |
OMIM:617808 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Spina bifida |
OMIM:620439 |
| Sacral Defect With Anterior Meningocele |
|
Hydromyelia, Tethered cord, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal si... |
OMIM:600145 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
OMIM:617044 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Lateral ventricle dilatation, Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, Hy... |
OMIM:617751 |
| Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Microcephaly, Hyperactivity, Motor stereotypy, Abnormal social behavior |
ORPHA:530983 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... |
OMIM:618825 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Low frustration tolerance, Overfriendliness, Attention deficit hyperactivity disorder, Thin corpu... |
OMIM:619293 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Cerebral cortical atrophy, Motor stereotypy, Hypoplasia of the corpus callosum |
ORPHA:85277 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Microcephaly, Depression, Motor stereotypy, Self-mutilation |
ORPHA:457240 |
| Triploidy |
|
Intrauterine growth retardation, Hydrocephalus, Abnormal cardiac septum morphology, Meningocele, ... |
ORPHA:3376 |
| Galloway-Mowat Syndrome 6 |
|
Microcephaly, Paroxysmal bursts of laughter, Motor stereotypy |
OMIM:618347 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Motor stereotypy, Agenesis of corpus callosum |
ORPHA:238750 |
| Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
| Lateral Meningocele Syndrome |
|
Dural ectasia, Tethered cord, Umbilical hernia, Ventricular septal defect, Syringomyelia, Bicuspi... |
OMIM:130720 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Abnormal spinal cord morphology |
ORPHA:99947 |
| Neurocutaneous Melanocytosis |
|
Syringomyelia, Meningocele |
ORPHA:2481 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter morphology, Perivent... |
OMIM:616900 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect, Sp... |
ORPHA:1393 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
| Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior |
ORPHA:64280 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... |
ORPHA:313892 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615637 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Depression, Hostility, Bruxism, Microcephaly, Repetitive compulsive behavior, Dysphagia, Motor st... |
OMIM:300260 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Microcephaly, Thin corpus callosum, Motor stereotypy, Simplified gyral pattern |
OMIM:619877 |
| Cri-Du-Chat Syndrome |
|
Oppositional defiant disorder, Short attention span, Self-mutilation, Overfriendliness, Aggressiv... |
OMIM:123450 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Aggress... |
OMIM:618914 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Abnormal periventricular white matter morphology, Microcephaly, Attention deficit hyperactivity d... |
OMIM:619725 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Microcephaly, Dysphagia, Simplified gyral pattern |
OMIM:620001 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Attention... |
OMIM:620073 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Hypoplasia of the corpus callosum, Microcephaly, Attention deficit hyper... |
OMIM:618354 |
| Potocki-Lupski Syndrome |
|
Oral-pharyngeal dysphagia, Hypoplasia of the corpus callosum, Microcephaly, Hyperactivity, Motor ... |
OMIM:610883 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Cognitive impairment |
ORPHA:98784 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Motor stereotypy, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| 5Q14.3 Microdeletion Syndrome |
|
Frontal cortical atrophy, Motor stereotypy, Hypoplasia of the corpus callosum |
ORPHA:228384 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dyspl... |
ORPHA:488627 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressive behavior, Hyperact... |
OMIM:600430 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal corpus callosum morphology, Abnormal temper tantrums, Lateral ventricle dilatation, Low ... |
ORPHA:457279 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Cerebral cortical atrophy, Bruxism, Hypoplasia of the corpus callosum, M... |
OMIM:618004 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Secondary microcephaly, Recurrent hand flapping, Aggressive behavior, At... |
OMIM:300986 |
| Lateral Meningocele Syndrome |
|
Dural ectasia, Umbilical hernia, Ventricular septal defect, Syringomyelia, Meningocele |
ORPHA:2789 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Intrauterine growth retardation, Spina bifida occulta, Meningocele, Anomalous p... |
ORPHA:2311 |
| Radio-Tartaglia Syndrome |
|
Agenesis of corpus callosum, Aggressive behavior, Attention deficit hyperactivity disorder, Micro... |
OMIM:619312 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Obsessive-compulsive trait, Irritability, Microcephaly, Hyperactivity, Pica, Motor stereotypy |
OMIM:617796 |
| Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Agenesis of corpus callosum, Motor stereotypy, Compulsive behaviors |
OMIM:613174 |
| 48,Xxyy Syndrome |
|
Attention deficit hyperactivity disorder, Depression, Motor stereotypy |
ORPHA:10 |
| Smith-Magenis Syndrome |
|
Head-banging, Onychotillomania, Self-mutilation, Hyperactivity, Self hugging, Motor stereotypy |
OMIM:182290 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation |
ORPHA:100924 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebral atrophy, Inappropriate laughter, Hypoplasia of the corpus callosum, Agenesis of corpus c... |
OMIM:615802 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Dysphagia, Pachygyria, Thin corpus callosum, Motor stereotypy, Abnormality of the anterior commis... |
ORPHA:572013 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620502 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Irritability, Hair-pulling, Dysphagia,... |
ORPHA:447997 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Aggressive behavior, Microcephaly, Hyperactivity, Self-biting, Motor stereotypy |
ORPHA:3306 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Hypoplasia of the corpus callosum, Aggressive behavior, Attention deficit hyperactivity disorder,... |
OMIM:619121 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Bulimia, Secondary microcephaly, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Re... |
OMIM:300912 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebral cortical atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Pro... |
OMIM:617802 |
| Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Thin corpus callosum, Motor stereotypy |
OMIM:618205 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:617600 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Iniencephaly |
|
Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Spina bifida, Hydrocephalus, H... |
ORPHA:63259 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Microcephaly, Reduced cerebral white matter volume, Motor stereotypy, Thin corpus callosum |
OMIM:617807 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Cerebral atrophy, Overfriendliness, Irritability, Hypoplasia of the corp... |
OMIM:616364 |
| Limb Body Wall Complex |
|
Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, Ventricular sep... |
ORPHA:2369 |
| Joubert Syndrome 14 |
|
Hydrocephalus, Meningocele, Encephalocele, Ventricular septal defect |
OMIM:614424 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Hypoplasia of the corpus callosum, Stereotypical hand wringing, Dysplastic corpus callosum, Micro... |
OMIM:619179 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Microcephaly, Motor stereotypy |
OMIM:619092 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Polymicrogyria, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callos... |
ORPHA:500159 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Microceph... |
OMIM:617061 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Self-injurious behavior, Lateral ventricle dilatation, Periventricular cysts, Dysplastic corpus c... |
ORPHA:544488 |
| Ritscher-Schinzel Syndrome 4 |
|
Agenesis of corpus callosum, Aggressive behavior, Dysphagia, Motor stereotypy, Impulsivity |
OMIM:619435 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissencephaly |
OMIM:614833 |
| Metachromatic Leukodystrophy, Adult Form |
|
Memory impairment, Depression, Punctate periventricular T2 hyperintense foci, Progressive psychom... |
ORPHA:309271 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Hypoplasia of the corpus callosum, Reduced social reciprocity, Aggressive behavior, Attention def... |
OMIM:300352 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Memory impairment, Reduced social reciprocity, Diminished ability to concentrate, Attention defic... |
OMIM:615656 |
| Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy |
OMIM:619317 |
| Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Self-injurious behavior, Cerebral atrophy, Bruxism, Hair-pulling, Aggressive behavior, Microcepha... |
OMIM:616393 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Microcephaly, Motor stereotypy, Agenesis of corpus callosum |
ORPHA:261144 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Punctate periventricular T2 hyperintense foci, Progressive psychomotor deterioration, Short atten... |
ORPHA:309263 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Rett Syndrome |
|
Bruxism, Stereotypical hand wringing, Progressive microcephaly, Primary microcephaly, Progressive... |
ORPHA:778 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618504 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Corticospinal tract hypoplasia, Aplasia/Hypoplasia of the corpus callosu... |
ORPHA:819 |
| Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Intrauterine growth retardation, Endocardial fibroelastosis, Ven... |
ORPHA:99776 |
| 22Q11.2 Duplication Syndrome |
|
Compulsive behaviors, Microcephaly, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:1727 |
| Coffin-Siris Syndrome 7 |
|
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity |
OMIM:618027 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Alazami Syndrome |
|
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing |
ORPHA:319671 |
| Developmental And Epileptic Encephalopathy 66 |
|
Motor stereotypy |
OMIM:618067 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Compulsive behaviors, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:618430 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Low frustration tolerance, Motor stereotypy, Hyperactivity, Self-mutilation |
OMIM:300486 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Cerebral cortical atrophy, Head-banging, Lateral ventricle dilatation, ... |
ORPHA:177907 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lateral ventricle dilatation, Secondary microcephaly, Short attention span, Stereotypical hand wr... |
OMIM:619229 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... |
OMIM:306955 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Cerebral cortical atrophy, Motor stereotypy, Microcephaly |
OMIM:619428 |
| Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Hydranencephaly, Spina bifida |
ORPHA:2839 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Secondary microcephaly, Bruxism, Motor stereotypy |
OMIM:616351 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Secondary microcephaly, Dysplastic corpus callosum, Primary microcephaly, Pachygyria, Thick cereb... |
ORPHA:357058 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Head-banging, Lateral ventricle dilatation, Frequent temper tantrums, Sh... |
OMIM:619575 |
| 48,Xxxy Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive or violent behavior, Abn... |
ORPHA:96263 |
| Wiedemann-Steiner Syndrome |
|
Abnormal corpus callosum morphology, Short attention span, Low frustration tolerance, Aggressive ... |
ORPHA:319182 |
| Hijazi-Reis Syndrome |
|
Motor stereotypy |
OMIM:301094 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Microcephaly, Motor stereotypy, Overfriendliness |
OMIM:616579 |
| Pagod Syndrome |
|
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Spina bifida, Meningocele |
ORPHA:991 |
| Phelan-Mcdermid Syndrome |
|
Bruxism, Abnormal periventricular white matter morphology, Reduced social reciprocity, Aggressive... |
OMIM:606232 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
| Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
| 3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:435638 |
| Developmental And Epileptic Encephalopathy 49 |
|
Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, Microcephaly, Hy... |
OMIM:617281 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Secondary microcephaly, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity dis... |
ORPHA:476126 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Reduced social reciprocity |
ORPHA:261197 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Microcephaly, Head-banging, Hypoplasia of the corpus callosum |
OMIM:618569 |
| Kleefstra Syndrome |
|
Self-injurious behavior, Cerebral cortical atrophy, Self-mutilation, Agenesis of corpus callosum,... |
ORPHA:261494 |
| Acromelic Frontonasal Dysplasia |
|
Meningocele, Encephalocele |
ORPHA:1827 |
| 2Q37 Microdeletion Syndrome |
|
Compulsive behaviors, Microcephaly, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:1001 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Cerebral hypoplasia, Cerebral atrophy, Polymicrogyria, Abnormal perivent... |
ORPHA:468631 |
| Trichotillomania |
|
Compulsive behaviors, Hair-pulling |
OMIM:613229 |
| Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Abnormal spinal cord morphology |
ORPHA:53721 |
| Trisomy 18 |
|
Intrauterine growth retardation, Ventricular septal defect, Spina bifida, Atrial septal defect, H... |
ORPHA:3380 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Punctate periventricular T2 hyperintense foci, Emotional lability, Abnormal social behavior |
ORPHA:309256 |
| Bainbridge-Ropers Syndrome |
|
Self-injurious behavior, Lateral ventricle dilatation, Recurrent hand flapping, Hypoplasia of the... |
OMIM:615485 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv... |
OMIM:620494 |
| Cerebrofacioarticular Syndrome |
|
Self-injurious behavior, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplast... |
ORPHA:314679 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Motor stereotypy |
ORPHA:397612 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Aggressive... |
ORPHA:468678 |
| Fibular Hemimelia |
|
Abnormal heart morphology, Spina bifida |
ORPHA:93323 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Microcepha... |
ORPHA:457351 |
| Fg Syndrome Type 1 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior, Aplasia... |
ORPHA:93932 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Mental deterioration, Depression, Cerebral atrophy, Dementi... |
ORPHA:646 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Tethered cord, Tetralogy of Fallot, Intrauterine growth retardation, Ven... |
OMIM:192350 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, Frequent temper tantrums, Agenesis of corpus callosum, Microcephaly, Hyp... |
OMIM:619512 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Spina bifida, Umbilical hernia |
OMIM:613776 |
| Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida |
ORPHA:3412 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Depression, Violent behavior, Bruxism, Short attention span, Emotional labi... |
OMIM:619475 |
| Focal Dermal Hypoplasia |
|
Umbilical hernia, Ventricular septal defect, Spina bifida, Abnormal cardiac septum morphology, Pa... |
ORPHA:2092 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
ORPHA:488618 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Fixated interests, Emotional lability, Hair-pulling, Polyphagia, Attenti... |
OMIM:620330 |
| Helsmoortel-Van Der Aa Syndrome |
|
Lateral ventricle dilatation, Bruxism, Reduced social reciprocity, Irritability, Polyphagia, Atte... |
OMIM:615873 |
| Kleefstra Syndrome 1 |
|
Compulsive behaviors, Aggressive behavior, Motor stereotypy, Microcephaly |
OMIM:610253 |
| Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma |
OMIM:109400 |
| Niemann-Pick Disease, Type C2 |
|
Dementia, Motor stereotypy, Dysphagia, Neurofibrillary tangles |
OMIM:607625 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele |
OMIM:616546 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Microcephaly, Motor stereotypy |
OMIM:212066 |
| Rauch-Steindl Syndrome |
|
Aggressive behavior, Microcephaly, Motor stereotypy, Hyperactivity |
OMIM:619695 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary mic... |
ORPHA:496641 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Atrioventricular canal defect, Patent ductus arteriosus, Tethered cord, Spina bifida |
OMIM:619480 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c... |
OMIM:614924 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy |
ORPHA:529965 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Cystinosis |
|
Polydipsia, Motor stereotypy |
ORPHA:213 |
| Tuberous Sclerosis Complex |
|
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... |
ORPHA:805 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum |
OMIM:618810 |
| Van Esch-O'Driscoll Syndrome |
|
Cerebral atrophy, Microcephaly, Attention deficit hyperactivity disorder, Excessive shyness, Moto... |
OMIM:301030 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Cerebral atrophy, Irritability, Microcephaly, Hyperintensity of cerebral white matter on MRI, Abn... |
ORPHA:1675 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... |
ORPHA:508498 |
| Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Patent fo... |
OMIM:256520 |
| Pilarowski-Bjornsson Syndrome |
|
Motor stereotypy |
OMIM:617682 |
| Monosomy 22Q13.3 |
|
Bruxism, Agenesis of corpus callosum, Hyperactivity, Hair-pulling |
ORPHA:48652 |
| Nmda Receptor Encephalitis |
|
Mania, Memory impairment, Depression, Confusion, Short attention span, Delirium, Motor stereotypy... |
ORPHA:217253 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Secondary microcephaly, Hypoplasia of the corpus callosum, Microcephaly,... |
OMIM:610954 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Reduced social reciprocity, Aggressive behavior, Polyphagia, Hyperactivi... |
ORPHA:96121 |
| Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:2671 |
| Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Syringomyelia, Atr... |
OMIM:274000 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Secondary microcephaly, Emotional labili... |
ORPHA:353281 |
| Hydroxykynureninuria |
|
Motor stereotypy |
ORPHA:79155 |
| Megalocornea-Intellectual Disability Syndrome |
|
Microcephaly, Motor stereotypy |
ORPHA:2479 |
| Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
| Fanconi Anemia |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardati... |
ORPHA:84 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Occipital encephalocele |
ORPHA:397715 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... |
OMIM:618820 |
| 22Q11.2 Deletion Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal pulmonary valve ... |
ORPHA:567 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Dural ectasia, Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aor... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Dural ectasia, Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aor... |
ORPHA:363958 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Mental deterioration, Oppositional defiant disorder, Short attention sp... |
ORPHA:580 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Intrauterine growth retardation, Ventricular septa... |
ORPHA:2308 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal corpus callosum morphology, Abnormal fear-induced behavior, Sec... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal corpus callosum morphology, Abnormal fear-induced behavior, Sec... |
ORPHA:353277 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Self-mutilation, Repetitive compulsive behavior, Self-biting, Motor stereotypy, Hemiballismus |
ORPHA:522077 |
| Orofaciodigital Syndrome Vi |
|
Hypoplastic left heart, Occipital meningocele |
OMIM:277170 |
| Hallermann-Streiff Syndrome |
|
Spina bifida |
OMIM:234100 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Cerebral cortical atrophy, Abnormal cortical gyration, Memory impairment, Aggressive behavior, Ab... |
ORPHA:314647 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Microcephaly, Attention deficit hyp... |
ORPHA:464311 |
| Developmental And Epileptic Encephalopathy 100 |
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Cerebral atrophy, Polymicrogyria, Dysphagia, Pachygyria, Thin corpus callosum, Motor stereotypy |
OMIM:619777 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Attention deficit hyperactivity disorder, Motor stereotypy, Self-mutilation |
OMIM:619005 |
| Mosaic Trisomy 20 |
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Intrauterine growth retardation, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ve... |
ORPHA:1724 |
| Cornelia De Lange Syndrome 6 |
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Compulsive behaviors, Microcephaly, Hypoplasia of the corpus callosum, Hair-pulling |
OMIM:620568 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Abnormal spinal cord morphology |
ORPHA:88628 |
| Developmental And Epileptic Encephalopathy 2 |
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Progressive microcephaly, Motor stereotypy |
OMIM:300672 |
| Joubert Syndrome 6 |
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Motor stereotypy |
OMIM:610688 |
| White-Kernohan Syndrome |
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Dysplastic corpus callosum, Attention deficit hyperactivity disorder |
OMIM:619426 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Microcephaly, Motor stereotypy, Hypoplasia of the corpus callosum |
ORPHA:508533 |
| Acute Disseminated Encephalomyelitis |
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Myelitis, Abnormal spinal cord morphology |
ORPHA:83597 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Microcephaly, Motor stereotypy, Cerebral atrophy |
OMIM:301040 |
| Phocomelia, Schinzel Type |
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Intrauterine growth retardation, Meningocele |
ORPHA:2879 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Aggressive behavior, Motor stereotypy, Short attention span |
OMIM:301066 |
| Neurofibromatosis, Type I |
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Hydrocephalus, Aqueductal stenosis, Spina bifida |
OMIM:162200 |
| Campomelic Dysplasia |
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Abnormal heart morphology, Hydrocephalus, Spinal dysraphism, Spina bifida |
OMIM:114290 |
| Adrenomyeloneuropathy |
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Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
| Dyrk1A-Related Intellectual Disability Syndrome |
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Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Microcephaly, Primary microcephaly,... |
ORPHA:464306 |
| Tetrasomy 9P |
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Umbilical hernia, Intrauterine growth retardation, Abnormal mitral valve morphology, Patent foram... |
ORPHA:3310 |
| Marfan Syndrome |
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Dural ectasia, Mitral valve prolapse, Tricuspid valve prolapse, Mitral valve calcification, Menin... |
ORPHA:558 |
| Kinsship Syndrome |
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Bruxism, Microcephaly, Motor stereotypy, Primary microcephaly |
OMIM:619297 |
| Rubinstein-Taybi Syndrome 1 |
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Hypoplastic left heart, Mitral valve prolapse, Ventricular septal defect, Patent foramen ovale, P... |
OMIM:180849 |
| Femoral-Facial Syndrome |
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Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifida, Patent ductus arterio... |
OMIM:134780 |
| Knobloch Syndrome 1 |
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Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele |
OMIM:267750 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Meningocele |
ORPHA:1010 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
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Right ventricular dilatation, Spina bifida, Neonatal death |
OMIM:614437 |
| Holoprosencephaly 7 |
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Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... |
OMIM:610828 |
| Mend Syndrome |
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Aggressive behavior, Hypoplasia of the corpus callosum, Hyperactivity, Abnormal social behavior |
ORPHA:401973 |
| Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
| Lenz-Majewski Hyperostotic Dwarfism |
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Dysplastic corpus callosum, Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum |
OMIM:151050 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Microcephaly, Motor stereotypy, Hypoplasia of the corpus callosum |
OMIM:618653 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Pseudobulbar paralysis, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Aggressive... |
ORPHA:466791 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dysplastic corpus callosum, Aggressive behavior, Impulsivity, Thick corpus callosum |
OMIM:300967 |
| Ogden Syndrome |
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Cerebral atrophy, Irritability, Microcephaly, Dysphagia, Motor stereotypy |
OMIM:300855 |
| Exstrophy-Epispadias Complex |
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Abnormal heart morphology, Hydrocephalus, Spina bifida |
ORPHA:322 |
| Oculocerebrorenal Syndrome Of Lowe |
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Self-injurious behavior, Depression, Attention deficit hyperactivity disorder, Compulsive behavio... |
ORPHA:534 |
| 1P36 Deletion Syndrome |
|
Self-injurious behavior, Cerebral cortical atrophy, Agenesis of corpus callosum, Polyphagia, Micr... |
ORPHA:1606 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Stereotypical body rocking, Hypoplasia of the corpus callosum, Microcephaly, Repetitive compulsiv... |
ORPHA:513456 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Hyperactivity, Motor stereotypy |
OMIM:309590 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal cerebral cortex morphology, Lateral ventricle dilatation, Polymicrogyria, Ischemic strok... |
ORPHA:500150 |
| Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Atrial septal defect, Stillbirth, Spina bifida |
OMIM:304120 |
| Zttk Syndrome |
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Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Periventricular leukomalac... |
OMIM:617140 |
| Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Cerebral cortical atrophy, Hippocampal atrophy, Aggressive behavior, Attention deficit hyperactiv... |
OMIM:614756 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal spinal cord morphology |
ORPHA:68 |
| Witteveen-Kolk Syndrome |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Aggressive behavior, Attention def... |
OMIM:613406 |
| Wolf-Hirschhorn Syndrome |
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Periventricular cysts, Absent septum pellucidum, Agenesis of corpus callosum, Microcephaly, Cavum... |
OMIM:194190 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Microcephaly, Motor stereotypy, Dysphagia |
OMIM:617330 |
| Arboleda-Tham Syndrome |
|
Microcephaly, Primary microcephaly, Motor stereotypy, Dysphagia |
OMIM:616268 |
| Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
| Norrie Disease |
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Self-injurious behavior, Cerebral cortical atrophy, Irritability, Microcephaly, Attention deficit... |
ORPHA:649 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Microcephaly, Motor stereotypy, Hypoplasia of the corpus callosum |
OMIM:301044 |
| Holoprosencephaly 9 |
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Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus |
OMIM:610829 |
| Williams Syndrome |
|
Cerebral cortical atrophy, Depression, Overfriendliness, Microcephaly, Attention deficit hyperact... |
ORPHA:904 |
| Primrose Syndrome |
|
Self-injurious behavior, Cerebral calcification, Hypoplasia of the corpus callosum, Aggressive be... |
OMIM:259050 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Abnormal corpus callosum morphology, Lateral ventricle dilatation, Polymicrogyria, Secondary micr... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Focal cortical dysplasia, Polymicrogyria, Large basal ganglia, Bruxism, Reduced social reciprocit... |
ORPHA:2152 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Microcephaly, Motor stereotypy |
OMIM:612474 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Abnormal corpus callosum morphology, Hypoplastic anterior commissure, Lateral ventricle dilatatio... |
ORPHA:261552 |
| Coffin-Siris Syndrome 12 |
|
Microcephaly, Motor stereotypy, Hippocampal atrophy |
OMIM:619325 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Microcephaly, Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia |
OMIM:619522 |
| Lowe Oculocerebrorenal Syndrome |
|
Periventricular cysts, Aggressive behavior, Motor stereotypy |
OMIM:309000 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Microcephaly, Motor stereotypy |
OMIM:616682 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele |
OMIM:276820 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
