Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Frontotemporal cerebral atrophy, Mental... |
ORPHA:275864 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Cerebral cortical atrophy, Self-injurious behavior, Poor eye contact, Hypoplasi... |
OMIM:617820 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Microcephaly, Cortical dysplasia, Hypoplas... |
OMIM:615282 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Amyotrophic lateral sclerosis, Apathy, Babinski sign, Disinhibition, Spasticity... |
OMIM:612069 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
Foxg1 Syndrome |
|
Motor stereotypy, Poor eye contact, Cognitive impairment, Inappropriate crying, Myoclonus, Hyperk... |
ORPHA:561854 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Dysplastic corpus callosum, Primary microcephaly, Aggressive behavior |
OMIM:618010 |
Pick Disease Of Brain |
|
Motor stereotypy, Apathy, Frontotemporal dementia, Emotional blunting, Disinhibition, Inappropria... |
OMIM:172700 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Cerebral atrophy, Microcephaly, Spasticity, Irritability |
OMIM:617393 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Apathy, Cerebral cortical atrophy, Myoclonus, Babinski sign, Rigidity, Inapprop... |
OMIM:600795 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Spastic paraplegia,... |
OMIM:613162 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... |
ORPHA:397933 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608631 |
Childhood Disintegrative Disorder |
|
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Abno... |
ORPHA:168782 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Autism |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608636 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Pachygyria, Impaired social interactions |
OMIM:606053 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Microcephaly, Chorea, Aggressive behavior, Inappropr... |
OMIM:619150 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Dysplastic corpus callosum, Poor eye contact, Microcephaly, Tetraparesis, Spasticity, Ton... |
OMIM:618276 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Cerebral atrophy, Microcephaly, Stereotypical hand wringing, Spasticity, Cerebral white matter hy... |
ORPHA:500545 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Microcephaly, Truncal ataxia, Self-mutilation |
OMIM:614063 |
Smith-Magenis syndrome |
|
Motor stereotypy, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior |
OMIM:617270 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Impulsivity, Stereotypical body rocking, Poor coordination, Microcephaly... |
OMIM:309548 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Microcephaly, Tremor, Aggressive behavior, Spastic tetraparesis, Simplified gyr... |
OMIM:619470 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, P... |
OMIM:617862 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Impulsivity, Cerebral atrophy, Large basal ganglia, Depression, Microcephaly, C... |
ORPHA:88616 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
Dopa-Responsive Dystonia |
|
Agoraphobia, Abnormal social behavior, Depression, Poor coordination, Fatigable weakness, Anxiety... |
ORPHA:255 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Microcephaly, Cortical dysplasia, Abnormal corpus callosum morphology |
OMIM:618709 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Polymicrogyria, Dysplastic corpus callosum, Hypoplasia o... |
OMIM:604213 |
Atypical Rett Syndrome |
|
Poor eye contact, Inappropriate crying, Hand apraxia, Pill-rolling tremor, Panic attack, Stereoty... |
ORPHA:3095 |
Fraxe Intellectual Disability |
|
Clumsiness, Impulsivity, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavior |
ORPHA:100973 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Clumsiness, Poor fine motor coordination, Progressive language deterioration, C... |
ORPHA:79264 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Spina bifida |
OMIM:211960 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy, Cerebral atrophy, Self-injurious behavior, Thin corpus callosum |
OMIM:619690 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Stereotypical hand wringing, Chorea, Hypoplasia of the corpus callosum |
OMIM:618760 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive behavior |
OMIM:613670 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Microcephaly, Anxiety, Gait ataxia, Aggressive behavior |
OMIM:609425 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... |
OMIM:619725 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Happy demeanor, Ataxia, Poor eye contact, Limb ataxia, Poor coordination, Micro... |
OMIM:617695 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperkinetic movements, Choreoathetosis, Invol... |
OMIM:618218 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Babinski sign, Spastic dysarthria, Hyp... |
ORPHA:280763 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Aggressive behavior |
OMIM:239500 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy, Microcephaly, Progressive microcephaly |
OMIM:620033 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Impulsivity, Poor coordination, Gait ataxia, Irritability |
OMIM:619717 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Secondary microcephaly |
OMIM:617830 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Poor eye contact, Progressive language deterioration, Self-mutilation, Mental deteriorati... |
ORPHA:163681 |
Hereditary Geniospasm |
|
Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Babinski sign, Progressive neu... |
OMIM:252650 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Self-injurious behavior, Cerebral atrophy, Stereotypical hand wringing, Chorea,... |
OMIM:618917 |
Hsd10 Disease |
|
Ataxia, Focal white matter lesions, Spastic paraparesis, Abnormal social behavior, Myoclonus, Mic... |
ORPHA:391417 |
Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, Progressive language deterioration, Cortical dysplasia, Spasticity, Agg... |
OMIM:610042 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Ataxia, Cerebral cortical atrophy, Semantic dementia, Abnormal social behavior, Myocl... |
ORPHA:1020 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Self-injurious behavior, Microcephaly, Tremor, Spasticity, Paroxysmal bursts of... |
OMIM:618718 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apathy, Cerebral cortical atrophy, Progressive language deterioration, Parkinsonism, Memory impai... |
OMIM:607485 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Anxiety, Pronoun reversal |
OMIM:615032 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor |
ORPHA:98807 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Anxiety, Poor eye contact, Hypoplasia of the corpus callosum, Abnormal social behavior |
ORPHA:444002 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida, Spinal cord lesion |
ORPHA:1756 |
Xq28 (MECP2) duplication |
|
Motor stereotypy, Depression, Microcephaly, Anxiety, Hypoplasia of the corpus callosum, Progressi... |
DECIPHER:45 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Ataxia, Cortical myoclonus, Cerebral atrophy, Mental deterioration, Myoclonus, ... |
ORPHA:168491 |
Christianson Syndrome |
|
Conspicuously happy disposition, Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Trunc... |
ORPHA:85278 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Syringomyelia, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300495 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Leukoencephalopathy, Self-injurious behavior, Cerebral atrophy, Microcephaly, C... |
ORPHA:178469 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Happy demeanor, Ataxia, Impulsivity, Recurrent hand flapping, Opisthotonus, Lim... |
OMIM:619580 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Microcephaly, Aggressive behavior |
OMIM:615541 |
Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Self-injurious behavior, Microcephaly, Hypoplasia of the corpus callosum, Later... |
ORPHA:208447 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly |
ORPHA:63862 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Microcephaly, Anxiety, Spastic ataxia |
OMIM:618906 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Cerebral cortical atrophy, Recurrent hand flapping, Hypoplasia of the corpus callosum, Spasticity... |
OMIM:618859 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyria, Primary microcephaly, Spa... |
ORPHA:300570 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypertonia, Dysplastic corpus callosum, Hemiparesis, Memory impairment, Tremor, Secondary microce... |
OMIM:619737 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Self-mutilation, Depression, Microcephaly, Anxiety, Hyperkinetic movements, Tre... |
ORPHA:457240 |
Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Progressive microcephaly, Poor eye contact, Inappropriate crying, Chorea, Athet... |
OMIM:613454 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Happy demeanor, Ataxia, Cerebral cortical atrophy, Microcephaly, Stereotypical ... |
OMIM:614104 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... |
ORPHA:1120 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Depression,... |
ORPHA:449291 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Depression, Intentio... |
ORPHA:309271 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Tremor, Self-injurious behavior, Agenesis of corpus callosum |
ORPHA:238750 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Happy demeanor, Poor eye contact, Microcephaly, Gait ataxia, Spasticity |
OMIM:617807 |
Cdkl5-Deficiency Disorder |
|
Inappropriate laughter, Poor eye contact, Stereotypical hand wringing |
ORPHA:505652 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy, Anxiety, Self-injurious behavior |
OMIM:615637 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Ataxia, Cognitive impairment, Microcephaly, Anxiety, Paraplegia, Emotional labi... |
ORPHA:927 |
Microphthalmia-Brain Atrophy Syndrome |
|
Inappropriate crying, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Lateral ventricle ... |
ORPHA:77299 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Poor eye contact, Depression, Microcephaly, Anxiety, Rigidity, Chorea, ... |
OMIM:300260 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Dysplastic corpus callosum, Bradykinesia, Hypoplasia of the corpus callosum,... |
OMIM:614924 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, Cerebral atrophy, Recurrent hand flapping |
OMIM:617268 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, De... |
ORPHA:309263 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebral white matter... |
ORPHA:391307 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Motor stereotypy, Cognitive impairment, Depression, Anxiety, Suicidal ideation, Involuntary movem... |
ORPHA:98784 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:250972 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Cerebral palsy, Microcephaly, Spasticity, Repetitive compulsive beh... |
ORPHA:352490 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Poor eye contact, Myoclonus, Hypoplasia of the corpus callosum, Occipital corti... |
ORPHA:411986 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Poor eye contact |
OMIM:613886 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Microcephaly, Tremor, Gait ataxia |
OMIM:619092 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Periventricular leukomalacia, Anxiety, Tics |
OMIM:617808 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior |
ORPHA:101039 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Abnormal cortical g... |
ORPHA:2524 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Tremor, Microcephaly, Aggressive behavior |
OMIM:618342 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Perisylvian polymicrogyria, Dysmetria, Microcephaly, Babinski sign, Truncal ata... |
OMIM:619121 |
Choreoacanthocytosis |
|
Frontal cortical atrophy, Mental deterioration, Chorea, Emotional lability, Slurred speech, Brady... |
ORPHA:2388 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Recurrent hand flapping, Cerebral palsy, Anxiety, Myoclonus, Chorea |
OMIM:617600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Conspicuously happy disposition, Hypertonia, Ataxia, Motor stereotypy, Self-injurious behavior, R... |
OMIM:300986 |
Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Impulsivity, Chorea, Athetosis, Aggressive behavior, Agenesis of corpus... |
OMIM:619435 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Microcephaly, Tremor, Impaired social interac... |
ORPHA:544254 |
Radio-Tartaglia Syndrome |
|
Motor stereotypy, Ataxia, Impulsivity, Poor eye contact, Microcephaly, Tremor, Aggressive behavio... |
OMIM:619312 |
2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Microcephaly, Paroxysmal bursts of laughter |
ORPHA:228402 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis |
OMIM:619317 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Microcephaly, Abnormal pyramidal sign, Polymicrogyria, Lissencephaly,... |
OMIM:614833 |
Fragile X Syndrome |
|
Poor eye contact, Recurrent hand flapping, Self-biting |
OMIM:300624 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Impulsivity, Self-injurious behavior, Cerebral palsy, Hypoplasia of... |
OMIM:618914 |
Cri-Du-Chat Syndrome |
|
Conspicuously happy disposition, Overfriendliness, Hypertonia, Motor stereotypy, Self-mutilation,... |
OMIM:123450 |
Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Poor eye contact, Stereotypical body rocking, Depression, Microcephaly, Anxiety, Sel... |
ORPHA:293939 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Ataxia, Poor eye contact, Recurrent hand flapping, Stereotypical body rocking, ... |
OMIM:300912 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy, Anxiety, Self-injurious behavior, Aggressive behavior |
ORPHA:313892 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Hand-leading gestures, Tics, Aggressive behavior, Recurrent hand flapping |
OMIM:617788 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Dextrocardia, Spina bifida |
ORPHA:2437 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Niemann-Pick Disease Type C |
|
Ataxia, Cataplexy, Frontal cortical atrophy, Abnormal social behavior, Mental deterioration, Chor... |
ORPHA:646 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Motor stereotypy, Head-banging, Dysplastic corpus callosum, Microcephaly, Partial agenesis of the... |
OMIM:619103 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Depression, Anxiety, Low self esteem, Limb myoclonus, Punding |
ORPHA:64280 |
Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Tethered cord, Neural tube defect, Meningocele, Lipomyelome... |
ORPHA:268810 |
48,Xxyy Syndrome |
|
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor |
ORPHA:10 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Poor eye contact, Microcephaly, No social in... |
OMIM:619428 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Microcephaly, Aggressive behavior, Self-biting |
ORPHA:3306 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tetraparesis |
ORPHA:85277 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent falls, Puncta... |
ORPHA:309256 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus, Stereotypical hand wringing, Hypoplasia of the corpus callosum, Diffuse ce... |
ORPHA:289266 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Microcephaly, Thin corpus callosum, Simplified gyral pattern |
OMIM:619877 |
Alazami Syndrome |
|
Motor stereotypy, Anxiety, Stereotypical hand wringing, Self-mutilation |
ORPHA:319671 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Intrauterine growth retardation |
ORPHA:1327 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... |
ORPHA:488627 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, Ataxia, Recurrent hand flapping, Cessation of head growth, Myoclonus, Tongue thru... |
ORPHA:98794 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness, Motor stereotypy, Thin corpus callosum, Low frustration tolerance |
OMIM:619293 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Motor stereotypy, Hypertonia, Microcephaly, Hypoplasia of the corpus callosum, Speech apraxia, Ag... |
OMIM:300352 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Cerebral palsy, Appendicular spasticity, Microcephaly, Simplified gyr... |
OMIM:620001 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Abnormality of the spinal cord |
ORPHA:99947 |
Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Abnormal social behavior, Microcephaly, Upper motor neuron dysfunction |
ORPHA:530983 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Motor stereotypy, Self-injurious behavior |
OMIM:617044 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Motor stereotypy, Ataxia, Cavum septum pellucidum, Lateral ventricle dilatation, Abnormal cerebra... |
ORPHA:457279 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Abnormal cerebral white matter morphology, Secondary microcephaly, Recurrent hand flapping, Hypop... |
OMIM:613192 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida |
OMIM:600122 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy, Aggressive behavior |
OMIM:618825 |
Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy, Anxiety, Self-injurious behavior |
ORPHA:397612 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callo... |
OMIM:616900 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum |
OMIM:601016 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Hydranencephaly, Ventricular septal defect, Meningocele, Spina bifida, Intraute... |
ORPHA:1393 |
Angelman Syndrome |
|
Happy demeanor, Ataxia, Cerebral dysmyelination, Self-injurious behavior, Poor eye contact, Recur... |
ORPHA:72 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Hypertonia, Cerebral atrophy, Microcephaly, Babinski sign, Hypoplasia of the co... |
OMIM:615802 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608049 |
Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Microcephaly, Paroxysmal bursts of laughter |
OMIM:618347 |
White-Sutton Syndrome |
|
Overfriendliness, Motor stereotypy, Self-injurious behavior, Cerebral atrophy, Microcephaly, Anxi... |
OMIM:616364 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, Microcephaly, Poor eye contact, Hypoplasia of the corpus callosum |
OMIM:610883 |
Angelman Syndrome Due To A Point Mutation |
|
Happy demeanor, Ataxia, Recurrent hand flapping, Cessation of head growth, Tongue thrusting, Inap... |
ORPHA:411511 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele |
ORPHA:2211 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Head-banging, Self-mutilation |
OMIM:182290 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, Cerebral cortical atrophy, Self-injurious behavior, Poor eye contact, Limb hype... |
ORPHA:457351 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Anxiety, Oromotor apraxia, Spasticity, Repetitive compulsive behavior |
ORPHA:391372 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Microcephaly, Stereotypical hand wringing, Hypoplasia of the corpus c... |
OMIM:619179 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Dysplastic corpus callosum, Athetosis, Thick cerebral cortex, Primary microcephaly, Spast... |
ORPHA:357058 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Encephalocele... |
ORPHA:63259 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... |
OMIM:608643 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, Poor eye contact, Self-mutilation, Hyperkinetic movements, Chorea, Self... |
ORPHA:522077 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Recurrent hand flapping, Cerebral atrophy |
OMIM:618916 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Speech apraxia |
OMIM:618205 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Motor stereotypy, Hypertonia, Cerebral hypoplasia, Self-injurious behavior, Cerebral atrophy, Hyp... |
ORPHA:468631 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Motor stereotypy, Microcephaly, Anxiety, Irritability |
OMIM:617796 |
5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy, Frontal cortical atrophy, Hypoplasia of the corpus callosum |
ORPHA:228384 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Happy demeanor, Recurrent hand flapping, Microcephaly, Tremor, Speech apraxia, Aggre... |
OMIM:619680 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Motor stereotypy, Hypertonia, Hair-pulling, Myoclonic spasms, Hypoplasia of the corpus callosum, ... |
ORPHA:447997 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Thick corpus callosum, Dysplastic corpus callosum, Self-injurious behavior, Lateral ventricle dil... |
ORPHA:544488 |
Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Agenesis of corpus callosum |
OMIM:613174 |
Limb Body Wall Complex |
|
Myelomeningocele, Hydrocephalus, Atrial septal defect, Short umbilical cord, Anencephaly, Spina b... |
ORPHA:2369 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Self-injurious behavior, Microcephaly, Anxiety, Corticospinal tract hypoplasia,... |
ORPHA:819 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Self-injurious behavior, Microcephaly, Tremor, Aggressive behavior |
OMIM:617061 |
Rett Syndrome |
|
Cerebral cortical atrophy, Gait apraxia, Stereotypical hand wringing, Truncal ataxia, Motor deter... |
OMIM:312750 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Cerebral atrophy, Microcephaly, Aggressive beh... |
OMIM:616393 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Hypoplasia of the fro... |
OMIM:156200 |
Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele |
ORPHA:894 |
Phelan-Mcdermid Syndrome |
|
Motor stereotypy, Poor eye contact, Microcephaly, Tongue thrusting, Abnormal periventricular whit... |
OMIM:606232 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypertonia, Microcephaly, Dysplastic corpus callosum |
OMIM:604273 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal periv... |
ORPHA:500159 |
Fountain Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:3219 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance |
OMIM:300486 |
Pyruvate Carboxylase Deficiency |
|
Apathy, Ataxia, Poor eye contact, Recurrent hand flapping, Abnormal pyramidal sign, Basal ganglia... |
ORPHA:3008 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Head-banging, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Spasti... |
OMIM:618569 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormality of the spinal cord |
ORPHA:139578 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Cerebral cortical atrophy, Cerebral atrophy, Microcephaly, Hypoplasia of the co... |
OMIM:617802 |
22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Microcephaly, Anxiety |
ORPHA:1727 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum |
OMIM:617751 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy, Microcephaly, Agenesis of corpus callosum |
ORPHA:261144 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Overfriendliness, Motor stereotypy, Microcephaly, Gait ataxia, Incoordination |
OMIM:616579 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Patent... |
ORPHA:99776 |
Kleefstra Syndrome |
|
Motor stereotypy, Cerebral cortical atrophy, Self-injurious behavior, Self-mutilation, Microcepha... |
ORPHA:261494 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Dysplastic corpus callosum, Self-injurious behavior, Microcephaly, Hypoplasia of the corp... |
ORPHA:314679 |
Keratoderma Hereditarium Mutilans |
|
Abnormality of the spinal cord |
ORPHA:494 |
Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
Nmda Receptor Encephalitis |
|
Motor stereotypy, Opisthotonus, Depression, Myoclonus, Anxiety, No social interaction, Rigidity, ... |
ORPHA:217253 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Motor stereotypy, Self-mutilation, Tremor, Gait ataxia, Primary microcephaly, Aggressive behavior... |
ORPHA:476126 |
Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy, Happy demeanor, Head-banging, Cerebral cortical atrophy, Abnormal social behavi... |
ORPHA:177907 |
Leber Congenital Amaurosis 1 |
|
Eye poking |
OMIM:204000 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Recurrent hand flapping |
OMIM:620021 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Spina bifida, Hydranencephaly |
ORPHA:2839 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Self-injurious behavior, Stereotypical body rocking, Inappropriate crying, Microcephaly, Tongue t... |
ORPHA:261323 |
48,Xxxy Syndrome |
|
Abnormal social behavior, Anxiety, Tremor, Abnormal aggressive, impulsive or violent behavior, Ir... |
ORPHA:96263 |
Kleefstra Syndrome 1 |
|
Motor stereotypy, Microcephaly, Apathy, Aggressive behavior |
OMIM:610253 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Cerebral cortical atrophy, Dysmetria, Abnormal social behavior, Intention tremor, Abnorma... |
ORPHA:314647 |
Rauch-Steindl Syndrome |
|
Motor stereotypy, Microcephaly, Anxiety, Aggressive behavior |
OMIM:619695 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Isometric tremor, Ataxia, Tics, Spasticity, Emotional lability, Impaired social interactions, Hyp... |
OMIM:619475 |
Oculocerebrodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Wiedemann-Steiner Syndrome |
|
Motor stereotypy, Microcephaly, Anxiety, Abnormal corpus callosum morphology, Psychomotor deterio... |
ORPHA:319182 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly, Spasticity |
OMIM:619423 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Motor stereotypy, Hypertonia, Self-mutilation, Microcephaly, Aggressive behavior |
OMIM:212066 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Cerebral cortical atrophy, Hypoplasia of the corpus callosum... |
ORPHA:496641 |
Pagod Syndrome |
|
Hypoplastic left heart, Situs inversus totalis, Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
Pitt-Hopkins Syndrome |
|
Motor stereotypy, Self-injurious behavior, Microcephaly, Hypoplasia of the corpus callosum, Gait ... |
OMIM:610954 |
White-Sutton Syndrome |
|
Motor stereotypy, Cerebral cortical atrophy, Self-injurious behavior, Microcephaly, Hypoplasia of... |
ORPHA:468678 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Intrauterine growth retardation |
OMIM:616038 |
Bainbridge-Ropers Syndrome |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Recurrent hand flapping, Microcephaly, Hyp... |
OMIM:615485 |
Shukla-Vernon Syndrome |
|
Motor stereotypy |
OMIM:301029 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
Trisomy 18 |
|
Atrial septal defect, Holoprosencephaly, Anencephaly, Ventricular septal defect, Spina bifida, In... |
ORPHA:3380 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Stereotypical hand wringing, Microcephaly, Agenesis of corpus callosum |
OMIM:612337 |
Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Ataxia, Myoclonus, Microcephaly, Stereotypical hand wringing, Tremor, Spasticit... |
OMIM:619229 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Motor stereotypy, Self-injurious behavior, Microcephaly, Anxiety, Partial agenesis of the corpus ... |
OMIM:619512 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the spinal cord, Spinal arteriovenous malformation |
ORPHA:53721 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Motor stereotypy, Speech apraxia, Choreoathetosis, Paroxysmal dyskinesia, Impaired social interac... |
ORPHA:261197 |
D-Glyceric Aciduria |
|
Cerebral cortical atrophy, Opisthotonus, Myoclonus, Microcephaly, Tongue thrusting, Spasticity, S... |
OMIM:220120 |
Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Ataxia, Cataplexy, Neurofibrillary tangles, Spasticity, Dementia |
OMIM:607625 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy |
OMIM:618027 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy, Secondary microcephaly |
OMIM:616351 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Hypertonia, Stereotypical hand wringing |
OMIM:619854 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Spasticity |
OMIM:618810 |
3P25.3 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Cerebral white matter atrophy |
ORPHA:435638 |
7Q11.23 Microduplication Syndrome |
|
Motor stereotypy, Self-injurious behavior, Dysmetria, Anxiety, Aggressive behavior, Simplified gy... |
ORPHA:96121 |
Rett Syndrome |
|
Motor stereotypy, Bradykinesia, Stereotypical hand wringing, Primary microcephaly, Limb apraxia, ... |
ORPHA:778 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Spasticity, Repetitive compulsive behavior, Hypoplasia of the corpus callosum |
ORPHA:401777 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormality of the spinal cord |
ORPHA:139396 |
Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy, Myoclonus, Progressive microcephaly, Poor eye contact |
OMIM:300672 |
Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Patent ductus arteriosus, Umbilica... |
ORPHA:2092 |
Neu-Laxova Syndrome 1 |
|
Intrauterine growth retardation, Short umbilical cord, Hydranencephaly, Small placenta, Ventricul... |
OMIM:256520 |
Kapur-Toriello Syndrome |
|
Pachygyria, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:2328 |
Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Impulsivity, Poor eye contact, Cerebral atrophy, Unilateral vocal cord paralysi... |
OMIM:301030 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hypertonia, Cerebral atrophy, Abnormal social behavior, Microcephaly, Hyperintensity of cerebral ... |
ORPHA:1675 |
Basal Cell Nevus Syndrome |
|
Hydrocephalus, Spina bifida, Cardiac rhabdomyoma, Cardiac fibroma |
OMIM:109400 |
Solitary Bone Cyst |
|
Abnormality of the spinal cord |
ORPHA:83468 |
Leber Congenital Amaurosis 8 |
|
Eye poking |
OMIM:613835 |
Transketolase Deficiency |
|
Motor stereotypy, Self-injurious behavior |
ORPHA:488618 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Spina bifida, Tethered cord, Atrioventricular canal defect |
OMIM:619480 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Bainbridge-Ropers Syndrome |
|
Hypertonia, Microcephaly, Recurrent hand flapping, Abnormal cerebral white matter morphology |
ORPHA:352577 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy |
OMIM:618504 |
Vater/Vacterl Association |
|
Intrauterine growth retardation, Tethered cord, Tetralogy of Fallot, Ventricular septal defect, P... |
OMIM:192350 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal def... |
ORPHA:508498 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Abnormal pulmonary valve morphology, Hydrocephalus, Atrial septal defect, Abno... |
ORPHA:567 |
Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Microcephaly, Ataxia |
ORPHA:2479 |
Developmental And Epileptic Encephalopathy 100 |
|
Motor stereotypy, Cerebral atrophy, Myoclonus, Chorea, Polymicrogyria, Choreoathetosis, Gait atax... |
OMIM:619777 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ataxia, Dysplastic corpus callosum, Pseudobulbar paralysis, Intention tremor, Anxiety, Hypoplasia... |
ORPHA:466791 |
Cystinosis |
|
Motor stereotypy, Abnormal pyramidal sign |
ORPHA:213 |
Leber Congenital Amaurosis 9 |
|
Eye poking |
OMIM:608553 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Thick corpus callosum, Ataxia, Dysplastic corpus callosum, Impulsivity, Tremor, Speech apraxia, A... |
OMIM:300967 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy, Speech apraxia |
ORPHA:529965 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Motor stereotypy, Hypertonia, Opisthotonus, Microcephaly, No social interaction, Hypoplasia of th... |
ORPHA:508533 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Thrombocytopenia-Absent Radius Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defe... |
OMIM:274000 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... |
ORPHA:353281 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Neu-Laxova Syndrome |
|
Spina bifida, Intrauterine growth retardation |
ORPHA:2671 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Action tremor, Repetitive compulsive behavior, Lower limb spasticity, Bilateral basal gan... |
ORPHA:66634 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Anxiety, Hypoplasia of the corpus call... |
ORPHA:464311 |
Tuberous Sclerosis Complex |
|
Impulsivity, Self-injurious behavior, Cortical tubers, Abnormal social behavior, Depression, Anxi... |
ORPHA:805 |
Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy |
OMIM:615873 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Secondary microcephaly, Tongue thrusting, Cessation of head growth |
ORPHA:98795 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Anxiety, Hypoplasia of the corpus call... |
ORPHA:464306 |
Fanconi Anemia |
|
Abnormal cardiac septum morphology, Hydrocephalus, Atrial septal defect, Hypertrophic cardiomyopa... |
ORPHA:84 |
2Q37 Microdeletion Syndrome |
|
Motor stereotypy, Microcephaly |
ORPHA:1001 |
Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia |
ORPHA:79155 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Ventricular septal defect, Spina bifida, Intrauter... |
ORPHA:2308 |
Joubert Syndrome 6 |
|
Motor stereotypy, Oculomotor apraxia, Ataxia |
OMIM:610688 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... |
ORPHA:353277 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal... |
ORPHA:363958 |
Split Cord Malformation |
|
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Tethered cord, Spinal cord tumor, Meningo... |
ORPHA:573278 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Motor stereotypy, Head-banging, Self-injurious behavior |
OMIM:619575 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Dpagt1-Cdg |
|
Hypertonia, Head-banging, Ataxia, Cerebral cortical atrophy, Stereotypical body rocking, Microcep... |
ORPHA:86309 |
Mucopolysaccharidosis Type 2 |
|
Motor stereotypy, Impulsivity, Cognitive impairment, Mental deterioration, Progressive neurologic... |
ORPHA:580 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Motor stereotypy, Microcephaly, Cerebral atrophy, Spasticity |
OMIM:301040 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Motor stereotypy, Self-mutilation |
OMIM:619005 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Anxiety |
OMIM:619426 |
Cardiofaciocutaneous Syndrome 1 |
|
Hypertonia, Cerebral cortical atrophy, Hypoplasia of the frontal lobes, Tongue thrusting, Oculomo... |
OMIM:115150 |
Hallermann-Streiff Syndrome |
|
Spina bifida |
OMIM:234100 |
Neurofibromatosis, Type I |
|
Hydrocephalus, Spina bifida, Aqueductal stenosis |
OMIM:162200 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Ventricular septal defect, Dysplastic tricuspid valve, Intraute... |
ORPHA:1724 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormality of the spinal cord |
ORPHA:88628 |
Fg Syndrome Type 1 |
|
Aplasia/Hypoplasia of the corpus callosum, Abnormal social behavior |
ORPHA:93932 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Motor stereotypy, Aggressive behavior |
OMIM:301066 |
Campomelic Dysplasia |
|
Spinal dysraphism, Spina bifida, Hydrocephalus, Abnormal heart morphology |
OMIM:114290 |
Mend Syndrome |
|
Limb hypertonia, Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal social behavior |
ORPHA:401973 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Hypoplasia of the corpus callosum, Aggressive behavior, Tongue thrusting, Hemiparesis |
ORPHA:369950 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Poor gross motor coordination, Cerebral cortical atrophy, Hand tremor, ... |
OMIM:614756 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Ataxia, Impulsivity, Self-mutilation, Spastic diplegia, Limb hypertonia, Cerebral palsy, Microcep... |
OMIM:619950 |
Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormality of the spinal cord |
ORPHA:139399 |
Rubinstein-Taybi Syndrome 1 |
|
Atrial septal defect, Hypoplastic left heart, Spina bifida occulta, Ventricular septal defect, Mi... |
OMIM:180849 |
Kinsship Syndrome |
|
Motor stereotypy, Microcephaly, Myoclonus, Primary microcephaly, Spastic tetraparesis |
OMIM:619297 |
Acute Disseminated Encephalomyelitis |
|
Myelitis, Abnormality of the spinal cord |
ORPHA:83597 |
1P36 Deletion Syndrome |
|
Motor stereotypy, Cerebral cortical atrophy, Hemiplegia/hemiparesis, Self-injurious behavior, Mic... |
ORPHA:1606 |
Tetrasomy 9P |
|
Abnormal cardiac septum morphology, Abnormal mitral valve morphology, Hydrocephalus, Oligospermia... |
ORPHA:3310 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Motor stereotypy, Hypertonia, Poor eye contact, Microcephaly, Hypoplasia of the corpus callosum, ... |
OMIM:301044 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Motor stereotypy, Ataxia, Dysmetria, Microcephaly, Truncal ataxia, Speech apraxia, Gait ataxia |
OMIM:617330 |
Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
Ogden Syndrome |
|
Torticollis, Hypertonia, Motor stereotypy, Cerebral atrophy, Microcephaly, Irritability |
OMIM:300855 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Stereotypical body rocking, Microcephaly, Hypoplasia of the corpus callosum, Ga... |
ORPHA:513456 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypertonia, Ataxia, Cerebral cortical atrophy, Microcephaly, Anxiety, Stereotypical hand wringing... |
ORPHA:268261 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Absent septum pellucidum, Polymicrogyria, Secondary microcephaly, Col... |
OMIM:618820 |
Zttk Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Abnormal cerebral white matter mor... |
OMIM:617140 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Oculocerebrorenal Syndrome Of Lowe |
|
Motor stereotypy, Self-injurious behavior, Depression, Anxiety, Clonus |
ORPHA:534 |
Monosomy 22Q13.3 |
|
Agenesis of corpus callosum, Hair-pulling |
ORPHA:48652 |
Witteveen-Kolk Syndrome |
|
Conspicuously happy disposition, Dysplastic corpus callosum, Microcephaly, Anxiety, Cortical dysp... |
OMIM:613406 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Motor stereotypy, Cerebral atrophy, Poor coordination, Spastic diplegia, Microcephaly, Hypoplasia... |
OMIM:309590 |
Norrie Disease |
|
Motor stereotypy, Hypertonia, Cerebral cortical atrophy, Self-injurious behavior, Microcephaly, A... |
ORPHA:649 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Motor stereotypy, Microcephaly, Hypoplasia of the corpus callosum |
OMIM:618653 |
Mgat2-Cdg |
|
Progressive microcephaly, Stereotypical hand wringing |
ORPHA:79329 |
Lowe Oculocerebrorenal Syndrome |
|
Motor stereotypy, Periventricular cysts, Aggressive behavior |
OMIM:309000 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Lateral ventricle ... |
ORPHA:500150 |
Arboleda-Tham Syndrome |
|
Motor stereotypy, Microcephaly, Primary microcephaly, Lower limb hypertonia |
OMIM:616268 |
Mowat-Wilson Syndrome |
|
Motor stereotypy, Happy demeanor, Ataxia, Focal white matter lesions, Large basal ganglia, Microc... |
ORPHA:2152 |
Wolf-Hirschhorn Syndrome |
|
Motor stereotypy, Absent septum pellucidum, Cavum septum pellucidum, Microcephaly, Periventricula... |
OMIM:194190 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormality of the spinal cord |
ORPHA:68 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Motor stereotypy, Happy demeanor, Poor fine motor coordination, Large basal ganglia, Focal hypoin... |
ORPHA:261537 |
Primrose Syndrome |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Cerebral calcification, Anxiety, Hypoplasia of... |
OMIM:259050 |
Williams Syndrome |
|
Overfriendliness, Ataxia, Cerebral cortical atrophy, Dysmetria, Abnormal social behavior, Depress... |
ORPHA:904 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Motor stereotypy, Happy demeanor, Poor fine motor coordination, Large basal ganglia, Focal hypoin... |
ORPHA:261552 |
Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormality of the spinal cord |
ORPHA:247245 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Motor stereotypy, Microcephaly |
OMIM:616682 |
Coffin-Siris Syndrome 12 |
|
Motor stereotypy, Microcephaly, Hippocampal atrophy |
OMIM:619325 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Myoclonus, Stereotypical hand wringing, Hypoplasia of the corpus ca... |
ORPHA:438213 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Impulsivity, Stereotypical body rocking, Ischemic stroke, Periventricular white matter hyperinten... |
OMIM:619503 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Motor stereotypy, Microcephaly, Exaggerated startle response |
OMIM:619522 |
Primary Sjögren Syndrome |
|
Abnormality of the spinal cord |
ORPHA:289390 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |