Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder, Abnormality of neuronal migra... |
OMIM:618709 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hypertonia, Gray matter heterotopia, Hyperactivity, Hemiparesis, Polymicrogyria, Abnormality of n... |
OMIM:604317 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia |
OMIM:616657 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Hyperactivity, Spasticity |
ORPHA:356996 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Pachygyria, Inability to walk |
OMIM:606053 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Decreased body weight, Truncal ataxia, Unsteady gait |
OMIM:614063 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Decreased body weight, Hyperactivity |
OMIM:616311 |
Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Ataxia, Hyperactivity |
OMIM:613402 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hypertonia, Failure to thrive, Hyperactivity, Agenesis of corpus callosum, Tetraplegia |
OMIM:274270 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Spastic tetraparesis, Simplified gyral... |
OMIM:619470 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity |
DECIPHER:8 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity |
OMIM:617393 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Foxg1 Syndrome |
|
Motor stereotypy, Inability to walk, Decreased body weight, Myoclonus, Hyperkinetic movements, St... |
ORPHA:561854 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Gait ataxia |
OMIM:609425 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity |
OMIM:615924 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Hyperactivity |
OMIM:239500 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Myoclonus, ... |
ORPHA:248111 |
Glycine Encephalopathy |
|
Myoclonus, Hyperactivity, Agenesis of corpus callosum |
OMIM:605899 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Paroxysmal dyskinesia |
OMIM:619150 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Inability to walk |
OMIM:617830 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Hyperactivity, Polymicrogyria, Chorea, Spasticity |
ORPHA:88616 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Hyperactivity, Spasticity |
OMIM:300983 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder, Obesity, Failure to t... |
OMIM:613670 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity |
OMIM:617113 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... |
OMIM:618218 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Decreased body weight, Limb ataxia... |
OMIM:617695 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Involuntary movements, Inability to walk, Spasticity |
OMIM:617820 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Failure to thrive, Hyperactivity, Agenesis of corpus callosum, Spasticity |
OMIM:615286 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Hyperactivity, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormali... |
ORPHA:382 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia, Polymicrogyria |
OMIM:615282 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia |
OMIM:612716 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy |
OMIM:300425 |
Autism |
|
Motor stereotypy |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Ataxia, Hyperactivity, Small for gestational age, Stereotypical hand wringing, ... |
OMIM:614104 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Slender build, Recurrent hand flapping, Hyperactivity, Myoclonus, Cerebral pals... |
OMIM:617600 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... |
ORPHA:280763 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Inability to walk, Hyperactivity, Tremor, Spasticity |
OMIM:618718 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Hyperactivity, Small for gestational age, Cerebral palsy, Attention... |
ORPHA:352490 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor |
ORPHA:98807 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hypertonia, Failure to thrive, Hyperactivity, Tics, Unsteady gait |
OMIM:617865 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination |
OMIM:617182 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Hyperactivity, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Obesity, L... |
ORPHA:3077 |
Cln5 Disease |
|
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Hyperactivity, D... |
ORPHA:228360 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, Limb hypertonia, Abnormal pyramidal sign, Chorea, Gait ataxia, ... |
ORPHA:500180 |
Optic Atrophy 11 |
|
Ataxia, Hyperkinetic movements, Dysmetria, Hyperactivity |
OMIM:617302 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia, Impaired tactile sensation |
OMIM:619092 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity |
OMIM:618917 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... |
OMIM:619317 |
Lennox-Gastaut Syndrome |
|
Myoclonus, Hyperactivity, Falls |
ORPHA:2382 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Hyperactivity |
OMIM:615541 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Motor tics |
OMIM:619927 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Obesity, Ataxia, Hyperactivity |
ORPHA:411515 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia, Spa... |
ORPHA:363400 |
Xq28 (MECP2) duplication |
|
Motor stereotypy, Failure to thrive, Inability to walk, Progressive spasticity, Gait ataxia |
DECIPHER:45 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Hyperactivity, Cerebral palsy, Stereotypical hand wringing, Abnormal neuron morphology, A... |
ORPHA:163681 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Frequent falls, Speech apraxia, Gait ataxia, Attention deficit hyperactivity disor... |
ORPHA:98818 |
Shukla-Vernon Syndrome |
|
Motor stereotypy, Broad-based gait, Attention deficit hyperactivity disorder |
OMIM:301029 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Recurrent hand flapping, Truncal obesity |
OMIM:613192 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Decreased body weight, Hyperactivity, Tremor, Attention deficit hyperactivity d... |
OMIM:618342 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Gait disturbance |
OMIM:600795 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Unsteady gait |
OMIM:615516 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Progressive cerebellar ataxia, Hyperactivity, Myoclonus, Chorea, Unsteady gait, Upper limb spasti... |
ORPHA:485350 |
Myopathy With Extrapyramidal Signs |
|
Perisylvian polymicrogyria, Ataxia, Clumsiness, Hyperactivity, Chorea, Frequent falls, Tremor, Di... |
OMIM:615673 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Hyperkinetic movements, Hyperactivity |
OMIM:271980 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Clonus, Upper lim... |
OMIM:609727 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Perisylvian polymicrogyria, Dysmetria, Babinski sign, Truncal ataxia, Attention... |
OMIM:619121 |
Christianson Syndrome |
|
Motor stereotypy, Cachexia, Gait ataxia, Truncal ataxia |
ORPHA:85278 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait |
OMIM:618205 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Hyperactivity, Polymicrogyria, Tremor, Gait ataxia, Simplified gyral pattern |
OMIM:300354 |
Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Hyperactivity |
ORPHA:530983 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Hyperactivity, Bradykinesia, Lissencephaly, Attention deficit hyperactivity disorder, Pachygyria,... |
OMIM:619827 |
Radio-Tartaglia Syndrome |
|
Motor stereotypy, Gait imbalance, Ataxia, Gray matter heterotopia, Tremor, Attention deficit hype... |
OMIM:619312 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Gait disturbance, Fasciculations, Upper motor neuron dysfunction, Abnormality o... |
ORPHA:275864 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Chorea, Lateral ventricle dilatation, Spasticity, Bilateral generalized polymic... |
ORPHA:178469 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Motor stereotypy, Patent ductus arteriosus, Attention deficit hyperactivity disorder |
OMIM:617044 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy, Pain insensitivity, Attention deficit hyperactivity disorder |
OMIM:618825 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Hyperactivity, Myoclonus, Tong... |
ORPHA:98794 |
Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, Hyperactivity, Spasticity |
OMIM:610042 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Motor stereotypy, Inability to walk, Spastic diplegia, Polymicrogyria, Partial agene... |
ORPHA:300570 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Obesity |
OMIM:613886 |
Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Periventricular heterotopia |
OMIM:300624 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Simplified gyral pattern, Inability to walk |
OMIM:619877 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy |
OMIM:619690 |
X-Linked Creatine Transporter Deficiency |
|
Hypertonia, Ataxia, Hyperactivity, Cachexia, Chorea, Athetosis |
ORPHA:52503 |
2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity |
ORPHA:228402 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Upper limb spasticity, Overwe... |
ORPHA:457240 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Decreased body weight, Hyperactivity, Spasticity |
OMIM:300958 |
Brain-Lung-Thyroid Syndrome |
|
Failure to thrive, Ataxia, Clumsiness, Hyperactivity, Intention tremor, Myoclonus, Chorea, Falls,... |
ORPHA:209905 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Motor stereotypy, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal poly... |
OMIM:619103 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Motor stereotypy, Hypertonia, Ataxia, Failure to thrive, Recurrent hand flapping, Gait disturbanc... |
OMIM:300986 |
X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hyperactivity, Hemiparesis, Gait disturbance, Somatic sensory dysfunctio... |
ORPHA:43 |
48,Xxyy Syndrome |
|
Motor stereotypy, Ataxia, Tremor, Attention deficit hyperactivity disorder, Obesity |
ORPHA:10 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Inability to walk, Recurrent hand flapping, Opisthotonus, Limb hyperton... |
OMIM:619580 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Increased body weight, Impaired pain sensation, Hyperactivity |
OMIM:182290 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Failure to thrive, Abnormal pyramidal sign, Hyperactivity, Tetraplegia |
ORPHA:369939 |
Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Agenesis of corpus callosum, Small for gestational age |
OMIM:613174 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Tremor, Agenesis of corpus callosum |
ORPHA:238750 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Ataxia, Cortical myoclonus, Inability to walk, Hyperactivity, Myoclonus, Gait d... |
ORPHA:168491 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, Abnormal pyramidal sign, Tremor, Attention deficit hyperactivity disorder,... |
ORPHA:1942 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age |
OMIM:610883 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Inability to walk, Pain insensitivity, Decreased body weight, Rigidity,... |
OMIM:300260 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Difficulty walking, Gait ataxia, Spasticity, Unsteady gait |
OMIM:617807 |
Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Chorea, Athetosis, Agenesis of corpus callosum |
OMIM:619435 |
Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Lateral ventricle dilatation, Spasticity, Spastic tetraplegia, Paroxysmal dyski... |
ORPHA:208447 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Hoffmann sign, Ankle clonus, Hemiparesis, Li... |
ORPHA:139396 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Myoclonus, Inability to walk |
ORPHA:411986 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Parkinsonism, Myo... |
ORPHA:79264 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Patent ductus arteriosus, Hyperactivity, Polymicrogyria |
OMIM:617751 |
Rett Syndrome |
|
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Stereotypical hand wringing... |
ORPHA:778 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Hyperactivity, Opisthotonus, Spastic tetraplegia, Eyelid myoclonus |
OMIM:619913 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Paraplegia, Ataxia, Failure to thrive |
ORPHA:927 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy |
OMIM:300495 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Motor stereotypy, Hypertonia, Broad-based gait, Failure to thrive, Gait disturbance, Speech aprax... |
OMIM:300352 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Motor stereotypy, Failure to thrive, Speech apraxia, Choreoathetosis, Attention deficit hyperacti... |
ORPHA:261197 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hypertonia, Bradykinesia, Hyperactivity, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinsk... |
OMIM:610217 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypertonia, Ataxia, Hyperactivity, Spastic paraparesis, Cerebral palsy, Spasticity, Abnormal cent... |
ORPHA:760 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Failure to thrive, Ataxia, Recurrent hand flapping, Hyperactivity, Stereotypica... |
OMIM:300912 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Gait ataxia, Hyperactivity, Spasticity |
OMIM:300486 |
Cri-Du-Chat Syndrome |
|
Motor stereotypy, Hypertonia, Hyperactivity, Small for gestational age, Difficulty walking |
OMIM:123450 |
Angelman Syndrome |
|
Broad-based gait, Clumsiness, Hyperactivity, Progressive gait ataxia, Limb tremor, Obesity |
OMIM:105830 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Blepharospasm, Bradykinesia, Hyperactivity, Babinski sign, Abnormal pyramidal s... |
OMIM:234200 |
Adenylosuccinase Deficiency |
|
Inability to walk, Hyperactivity, Opisthotonus, Myoclonus, Gait ataxia, Spasticity |
OMIM:103050 |
Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Decreased body weight |
OMIM:618347 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Hyperactivity |
ORPHA:3306 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Hypertonia, Failure to thrive, Babinski sign, Spasticity, Agenesis of corpus ca... |
OMIM:615802 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Pain insensitivity, Tremor, Patent ductus arteriosus, Attention deficit hyperac... |
OMIM:617061 |
Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia, Simplified gyral patt... |
OMIM:613454 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:313892 |
Pick Disease Of Brain |
|
Motor stereotypy |
OMIM:172700 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Motor stereotypy, Overweight, Hyperactivity, Small for gestational age |
OMIM:617796 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Gait disturbance, Attention deficit hyperactivity disorder, Obesity, Impaired p... |
ORPHA:819 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia, Head tremor |
OMIM:619428 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy, Agenesis of corpus callosum |
ORPHA:261144 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Hyperactivity |
ORPHA:391307 |
3P25.3 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder, Patent ductus arteriosus |
ORPHA:435638 |
Hyperlysinemia |
|
Failure to thrive, Clumsiness, Hyperactivity, Opisthotonus, Dysmetria, Tip-toe gait, Spastic dipl... |
ORPHA:2203 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Stereotypical body rocking, Agenesis of corpus callosum, Tongue thrusting, Failure... |
ORPHA:261323 |
Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Ataxia, Inability to walk, Decreased body weight, Myoclonus, Stereotypical hand... |
OMIM:619229 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy |
OMIM:615637 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Motor stereotypy, Lateral ventricle dilatation, Ataxia, Unsteady gait |
ORPHA:457279 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Tetraparesis |
ORPHA:85277 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Motor stereotypy, Failure to thrive, Tremor, Gait ataxia, Attention deficit hyperactivity disorder |
ORPHA:476126 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Hyperactivity |
OMIM:618027 |
Cystinosis |
|
Motor stereotypy, Failure to thrive, Abnormal pyramidal sign, Gait disturbance |
ORPHA:213 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Motor stereotypy, Patent ductus arteriosus, Attention deficit hyperactivity disorder |
OMIM:619293 |
Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy, Obesity, Hyperactivity |
OMIM:615873 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Motor stereotypy, Incoordination, Impaired pain sensation, Gait ataxia |
OMIM:616579 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy, Broad-based gait |
OMIM:616351 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Motor stereotypy, Involuntary movements, Attention deficit hyperactivity disorder |
ORPHA:98784 |
White-Sutton Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Tics, Waddling gait, Patent ductus arteriosus... |
OMIM:616364 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorder |
ORPHA:449291 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy, Patent ductus arteriosus, Polymicrogyria |
ORPHA:500159 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Motor stereotypy, Hypertonia, Periventricular heterotopia, Severe failure to thrive, Abnormal pyr... |
ORPHA:468631 |
Choreoacanthocytosis |
|
Hypertonia, Loss of ambulation, Blepharospasm, Bradykinesia, Resting tremor, Hyperactivity, Impai... |
ORPHA:2388 |
Joubert Syndrome 6 |
|
Motor stereotypy, Oculomotor apraxia, Ataxia |
OMIM:610688 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Inability to walk |
OMIM:617802 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Ataxia, Hyperactivity |
OMIM:620047 |
22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:1727 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Hyperactivity, Hand tremor, Small for gestational age |
ORPHA:424 |
Rauch-Steindl Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity |
OMIM:619695 |
5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
Phelan-Mcdermid Syndrome |
|
Motor stereotypy, Broad-based gait, Tongue thrusting, Patent ductus arteriosus, Unsteady gait, Im... |
OMIM:606232 |
Transketolase Deficiency |
|
Motor stereotypy, Patent ductus arteriosus, Attention deficit hyperactivity disorder |
ORPHA:488618 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Fasciculations, Tetraplegia |
ORPHA:496641 |
2Q37 Microdeletion Syndrome |
|
Motor stereotypy, Obesity, Attention deficit hyperactivity disorder |
ORPHA:1001 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, Hyperkinetic movements, Chorea, Hemiballismus, Athetoid cerebral palsy,... |
ORPHA:522077 |
Alazami Syndrome |
|
Motor stereotypy, Stereotypical hand wringing |
ORPHA:319671 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Motor stereotypy, Impaired pain sensation, Decreased body weight, Attention deficit hyperactivity... |
OMIM:619005 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Motor stereotypy, Hypertonia, Failure to thrive, Unsteady gait |
OMIM:212066 |
Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Ataxia |
ORPHA:2479 |
Familial Gestational Hyperthyroidism |
|
Weight loss, Hyperactivity, Hand tremor |
ORPHA:99819 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Motor stereotypy, Failure to thrive, Small for gestational age, Gait disturbance, Patent ductus a... |
ORPHA:464311 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Partial agenesis of the corpus callosum, Agen... |
OMIM:619512 |
Childhood Disintegrative Disorder |
|
Motor stereotypy |
ORPHA:168782 |
7Q11.23 Microduplication Syndrome |
|
Motor stereotypy, Hyperactivity, Dysmetria, Patent ductus arteriosus, Unsteady gait, Simplified g... |
ORPHA:96121 |
Bainbridge-Ropers Syndrome |
|
Motor stereotypy, Hypertonia, Failure to thrive, Inability to walk, Recurrent hand flapping |
OMIM:615485 |
Early Infantile Epileptic Encephalopathy |
|
Failure to thrive, Hyperactivity, Myoclonus, Tremor, Choreoathetosis, Spasticity, Pachygyria, Epi... |
ORPHA:1934 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Cerebral palsy |
OMIM:618914 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Isometric tremor, Ataxia, Falls, Tics, Spasticity, Broad-based gait, Hypertonia, Decreased body w... |
OMIM:619475 |
Kleefstra Syndrome |
|
Motor stereotypy, Obesity, Agenesis of corpus callosum |
ORPHA:261494 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy |
OMIM:608049 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy, Speech apraxia |
ORPHA:529965 |
Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy, Lateral ventricle dilatation, Patent ductus arteriosus, Attention deficit hyper... |
ORPHA:177907 |
Developmental And Epileptic Encephalopathy 100 |
|
Motor stereotypy, Myoclonus, Chorea, Polymicrogyria, Choreoathetosis, Gait ataxia, Pachygyria |
OMIM:619777 |
Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Ataxia, Spasticity, Cataplexy |
OMIM:607625 |
Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy, Myoclonus, Inability to walk |
OMIM:300672 |
Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy |
ORPHA:397612 |
White-Sutton Syndrome |
|
Motor stereotypy, Incoordination, Obesity, Hyperactivity |
ORPHA:468678 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, Limb hypertonia, Inability to walk, Spasticity |
ORPHA:457351 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Gait disturbance, ... |
ORPHA:464306 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Motor stereotypy, Broad-based gait, Ataxia, Poor gross motor coordination, Hyperactivity, Hand tr... |
OMIM:614756 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Motor stereotypy, Hypertonia, Hyperactivity, Myoclonic spasms, Clonus, Lower limb spasticity |
ORPHA:447997 |
Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia |
ORPHA:79155 |
Argininemia |
|
Hyperactivity, Spastic paraparesis, Progressive spastic quadriplegia, Frequent falls, Spastic gait |
OMIM:207800 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Motor stereotypy, Failure to thrive, Overweight, Attention deficit hyperactivity disorder |
OMIM:619575 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Broad-based gait, Failure to thrive, Stereotypical body rocking, Gait ataxia, R... |
ORPHA:513456 |
Pitt-Hopkins Syndrome |
|
Motor stereotypy, Incoordination, Gait ataxia |
OMIM:610954 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Motor stereotypy, Broad-based gait, Ataxia, Pain insensitivity, Dysmetria, Truncal ataxia, Speech... |
OMIM:617330 |
Kleefstra Syndrome 1 |
|
Motor stereotypy, Obesity |
OMIM:610253 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Small for gestational age |
OMIM:609152 |
Wiedemann-Steiner Syndrome |
|
Motor stereotypy, Failure to thrive, Hyperactivity |
ORPHA:319182 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Motor stereotypy, Patent ductus arteriosus, Unsteady gait |
OMIM:616682 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk, Opisthotonus |
ORPHA:508533 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Motor stereotypy, Ataxia |
OMIM:616393 |
Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Spas... |
OMIM:301030 |
1P36 Deletion Syndrome |
|
Motor stereotypy, Failure to thrive, Hemiplegia/hemiparesis, Gait disturbance, Patent ductus arte... |
ORPHA:1606 |
Nmda Receptor Encephalitis |
|
Motor stereotypy, Opisthotonus, Myoclonus, Rigidity, Chorea, Choreoathetosis, Involuntary movements |
ORPHA:217253 |
Kinsship Syndrome |
|
Spastic tetraparesis, Failure to thrive, Myoclonus, Motor stereotypy |
OMIM:619297 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Motor stereotypy, Hyperactivity, Small for gestational age, Poor coordination, Spastic diplegia |
OMIM:309590 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Motor stereotypy, Agenesis of corpus callosum |
ORPHA:508498 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Motor stereotypy, Obesity, Difficulty walking |
OMIM:618653 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Motor stereotypy, Spasticity |
OMIM:301040 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Motor stereotypy, Obesity |
OMIM:301066 |
Arboleda-Tham Syndrome |
|
Motor stereotypy, Patent ductus arteriosus, Gait imbalance, Lower limb hypertonia |
OMIM:616268 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Patent ductus arteriosus, Obesity, Abnormal l... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Patent ductus arteriosus, Obesity, Abnormal l... |
ORPHA:353277 |
Oculocerebrorenal Syndrome Of Lowe |
|
Motor stereotypy, Failure to thrive, Attention deficit hyperactivity disorder, Clonus |
ORPHA:534 |
Wolf-Hirschhorn Syndrome |
|
Motor stereotypy, Failure to thrive, Agenesis of corpus callosum, Small for gestational age |
OMIM:194190 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Motor stereotypy, Failure to thrive, Hyperactivity, Patent ductus arteriosus, Obesity |
ORPHA:353281 |
Mucopolysaccharidosis Type 2 |
|
Motor stereotypy, Hyperactivity |
ORPHA:580 |
Norrie Disease |
|
Motor stereotypy, Hypertonia, Failure to thrive, Cachexia, Attention deficit hyperactivity disord... |
ORPHA:649 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Motor stereotypy, Broad-based gait, Periventricular heterotopia, Inability to walk, Failure to th... |
ORPHA:261537 |
Ogden Syndrome |
|
Torticollis, Hypertonia, Motor stereotypy, Patent ductus arteriosus |
OMIM:300855 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Motor stereotypy, Broad-based gait, Periventricular heterotopia, Inability to walk, Failure to th... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Periventricular heterotopia, Decre... |
ORPHA:2152 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Motor stereotypy, Patent ductus arteriosus, Attention deficit hyperactivity disorder, Exaggerated... |
OMIM:619522 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Spastic tetraparesis, Hypertonia, Motor stereotypy |
OMIM:301044 |
Primrose Syndrome |
|
Motor stereotypy, Ataxia, Truncal obesity, Tics, Attention deficit hyperactivity disorder |
OMIM:259050 |
Coffin-Siris Syndrome 12 |
|
Motor stereotypy, Failure to thrive |
OMIM:619325 |
Lowe Oculocerebrorenal Syndrome |
|
Motor stereotypy, Failure to thrive |
OMIM:309000 |