Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Manganese Poisoning |
|
Postural tremor, Dystonia, Gait disturbance, Aggressive behavior, Abnormality of extrapyramidal m... |
ORPHA:306682 |
Autism, Susceptibility To, X-Linked 4 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity, Motor tics |
OMIM:300830 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... |
ORPHA:98764 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Corticobasal Syndrome |
|
Involuntary movements, Dystonia, Gait disturbance, Oromotor apraxia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Perry Syndrome |
|
Dystonia, Inappropriate behavior, Rigidity, Suicidal ideation, Apathy, Bradykinesia, Tremor, Shor... |
OMIM:168605 |
Kufor-Rakeb Syndrome |
|
Gait disturbance, Dystonia, Babinski sign, Rigidity, Torticollis, Aggressive behavior, Myoclonus,... |
OMIM:606693 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Inability to ... |
ORPHA:391411 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
Spinocerebellar Ataxia 21 |
|
Postural tremor, Dystonia, Aggressive behavior, Abnormality of extrapyramidal motor function, Cog... |
OMIM:607454 |
Dopa-Responsive Dystonia |
|
Irritability, Abnormal social behavior, Anxiety, Oculogyric crisis, Panic attack, Lethargy, Gait ... |
ORPHA:255 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Shyness, Gait ataxia, Aggressive behavior |
OMIM:618221 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Hypokinesia, Tremor, Parkinson... |
OMIM:605407 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Impaired social interactions, Stereotypy |
OMIM:606053 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Babinski sign, Spastic tetraplegia, Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Postencephalitic Parkinsonism |
|
Involuntary movements, Babinski sign, Happy demeanor, Tremor by anatomical site, Rigidity, Dimini... |
ORPHA:97349 |
Developmental And Epileptic Encephalopathy 56 |
|
Poor coordination, Ataxia, Broad-based gait, Anxiety, Attention deficit hyperactivity disorder |
OMIM:617665 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Falls, Spastic dysarthria, Loss of ability to walk, Oculomotor apraxia, Freezing ... |
ORPHA:240094 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608631 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Stereotypy |
DECIPHER:8 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Self-mutilation, Phonic tics, Motor tics, Attention deficit hyperactivity di... |
OMIM:137580 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Spasticity |
OMIM:615493 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Impulsivity, Falls, Bradykinesia, Tremor,... |
ORPHA:240071 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Spasticity |
ORPHA:356996 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... |
ORPHA:101150 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Involuntary movements, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Limb dy... |
ORPHA:98762 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... |
ORPHA:36899 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
Huntington Disease |
|
Clumsiness, Gait imbalance, Apathy, Irritability, Anxiety, Gait disturbance, Clonus, Bradykinesia... |
ORPHA:399 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300425 |
Autism |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608636 |
Spinocerebellar Ataxia Type 21 |
|
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ak... |
ORPHA:98773 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Infantile Dystonia-Parkinsonism |
|
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypokinesia, Hyper... |
ORPHA:238455 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Poor coordination, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Impulsivity, R... |
OMIM:309548 |
Autosomal Dominant Cerebellar Ataxia |
|
Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyramidal sign, Gait di... |
ORPHA:99 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Diminished movement, Limb apraxi... |
ORPHA:240103 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron... |
ORPHA:401901 |
Fraxe Intellectual Disability |
|
Clumsiness, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Impulsivity, Recurren... |
ORPHA:100973 |
Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Rigidity, Frequent falls, Shuffling gait, Bradykinesia, Apathy, Parkinsonism with favor... |
ORPHA:411602 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Death in infancy, Tongue fasciculations, Akinesia |
OMIM:618822 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Death in childhood, Akinesia |
OMIM:619334 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety, Depression |
OMIM:159900 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Rigidity, Bradykinesia, Hypokinesia, Dysdiadochokinesis |
OMIM:609161 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Stereotypy |
OMIM:300271 |
Glycine Encephalopathy |
|
Death in infancy, Aggressive behavior, Myoclonus, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Falls, Inappropr... |
OMIM:619150 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Inappropriate behavior, Abulia, Aggressive behavior, Abnormality of extrapyrami... |
ORPHA:275864 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Inappropriate crying, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic movement... |
ORPHA:397933 |
N-Acetylaspartate Deficiency |
|
Unsteady gait, Self-mutilation, Truncal ataxia, Stereotypy |
OMIM:614063 |
Pandas |
|
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... |
ORPHA:66624 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Dystonia, Gait disturbance, Babinski sign, Inappropriate behavior, Rigidity, Aggressive behavior,... |
OMIM:600795 |
Aceruloplasminemia |
|
Involuntary movements, Dystonia, Rigidity, Torticollis, Chorea, Apathy, Tremor, Ataxia, Craniofac... |
ORPHA:48818 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia |
OMIM:617270 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Involuntary movements, Irritability, Tongue fasciculations, Hypokinesia |
ORPHA:238329 |
Atypical Rett Syndrome |
|
Involuntary movements, Dystonia, Gait disturbance, Panic attack, Limb myoclonus, Inappropriate cr... |
ORPHA:3095 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Difficulty walking, Spasticity, Stereotypy |
OMIM:617393 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia, Stereotypy |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Poor eye contact, Tremor, Hyperactivity, Ataxia, Spasticity |
OMIM:300983 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Aggressive behavior, Hemiparesis, Spastic tetraparesis, Hyperactivity, Hypertonia, Impulsivity |
OMIM:604317 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait |
OMIM:619470 |
Pick Disease Of Brain |
|
Apathy, Inappropriate laughter, Stereotypy, Emotional blunting, Diminished motivation, Irritabili... |
OMIM:172700 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Abnormal neuron morphology, Falls, Shuffling gait, Bradykinesia, Apathy, ... |
ORPHA:412066 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Resting tremor, Spasticity, Akinesia, Abnormal pyramidal sign, Limb dystonia |
OMIM:616840 |
Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... |
OMIM:618218 |
Huntington Disease-Like 2 |
|
Dystonia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression |
OMIM:606438 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:619031 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Amyotrophic lateral sclerosis, Apathy, Stereotypy, Emotional lability, Disinhibiti... |
OMIM:612069 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Diff... |
OMIM:619191 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Babinski sign, Rigidity, Shuffling gait, Intention tremor, Ataxia, Resting tremor, Dysdiadochokin... |
ORPHA:247234 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Involuntary movements, Tetraplegia, Fasciculations, Hypokinesia |
OMIM:300816 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Self-injurious behavior, Chorea, Inability to walk, Stereotypical hand wringing |
OMIM:618760 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Aggressive behavior, Speech apraxia, Stereotypy, Anxiety, Attention defi... |
OMIM:613670 |
Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, Retrocollis, Apath... |
OMIM:601104 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Stereotypy |
OMIM:615541 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety, Chorea |
OMIM:118700 |
Chromosome 3Q29 Deletion Syndrome |
|
Aggressive behavior, Stereotypy, Hyperactivity, Anxiety, Gait ataxia |
OMIM:609425 |
Juvenile Huntington Disease |
|
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia... |
ORPHA:248111 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower limb spasticit... |
ORPHA:3077 |
Supranuclear Palsy, Progressive, 2 |
|
Postural tremor, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, R... |
OMIM:609454 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety, Depression |
OMIM:605909 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Dystonia, Gait disturbance, Rigidity, Eyelid apraxia, Choreoathetosis, Abnormality ... |
OMIM:234200 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618709 |
Huntington Disease-Like 1 |
|
Rigidity, Dysmetria, Chorea, Aggressive behavior, Incoordination, Unsteady gait, Anxiety, Depression |
OMIM:603218 |
Dystonia 12 |
|
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Parkinsonism, Anxiety, De... |
OMIM:128235 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... |
ORPHA:71517 |
Pontocerebellar Hypoplasia, Type 11 |
|
Happy demeanor, Poor coordination, Poor eye contact, Stereotypy, Ataxia, Inability to walk, Broad... |
OMIM:617695 |
Foxg1 Syndrome |
|
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Choreoathetosis, Myoclonus, Poor e... |
ORPHA:561854 |
Muscular Hypertonia, Lethal |
|
Hypertonia, Hypokinesia |
OMIM:254120 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Diminished movement, Myo... |
OMIM:608643 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Hyperactivity, Ataxia, Oculomotor apraxia... |
OMIM:612716 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Huntington Disease-Like 1 |
|
Clumsiness, Gait disturbance, Involuntary movements, Frequent falls, Dysmetria, Chorea, Bradykine... |
ORPHA:157941 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inabil... |
OMIM:618718 |
Myopathy, Congenital, Compton-North |
|
Death in infancy, Akinesia |
OMIM:612540 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Inability to walk, Hypokinesia |
OMIM:618184 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... |
OMIM:615924 |
Developmental And Epileptic Encephalopathy 58 |
|
Spastic diplegia, Inability to walk, Stereotypy |
OMIM:617830 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Hypertonia, Poor eye contact, Spasticity, Hypokinesia |
OMIM:609060 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Clumsiness, Aggressive behavior, Hypokinesia, Ataxia, Tongue fasciculations |
OMIM:614707 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Akinesia |
OMIM:601160 |
Developmental And Epileptic Encephalopathy 28 |
|
Spasticity, Rigidity, Hypokinesia |
OMIM:616211 |
Gaucher Disease, Perinatal Lethal |
|
Opisthotonus, Neonatal death, Apathy, Hypokinesia, Akinesia |
OMIM:608013 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity, Impulsivity, Depression |
ORPHA:88616 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300495 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Hypertonia, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Shyness, Babinski sign, Spastic dysarthria, Stereotypy, Waddling gait, Spasticity, Prog... |
ORPHA:280763 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Stereotypy, Hyperactivity, Ataxia, Spasticity, Impaired social interactions |
OMIM:610042 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Inability to walk, Stereotypical hand wrin... |
OMIM:618917 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Stereotypy, Hyperactivit... |
ORPHA:449291 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypertonia, Death in childhood, Spastic tetraplegia, Akinesia |
OMIM:619147 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Bradykinesia, Hypokinesia |
OMIM:619063 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Early-Onset Schizophrenia |
|
Shyness, Unhappy demeanor, Anxiety, Low self esteem, Suicidal ideation, Lack of peer relationship... |
ORPHA:96369 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia, Stereotypy |
OMIM:618906 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Cataplexy, Narcolepsy, Ataxia, Spasticity, Depression |
OMIM:604121 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Childhood Disintegrative Disorder |
|
Anxiety, Impaired social interactions, Abnormal emotion/affect behavior, Stereotypy |
ORPHA:168782 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Parkinson Disease 1, Autosomal Dominant |
|
Dystonia, Gait disturbance, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Hypokinesia, Resti... |
OMIM:168601 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Myoclonus, Falls, Hyperactivity, Personality disorder |
ORPHA:2382 |
Niemann-Pick Disease Type C |
|
Clumsiness, Cataplexy, Apathy, Progressive gait ataxia, Abnormal social behavior, Abnormal pyrami... |
ORPHA:646 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Chorea, Apathy, Motor tics, Parkinsonism, Anxiety, Depression |
OMIM:615483 |
Fetal Akinesia Deformation Sequence |
|
Akinesia, Hypokinesia |
ORPHA:994 |
Cdkl5-Deficiency Disorder |
|
Gait disturbance, Poor eye contact, Inappropriate laughter, Stereotypical hand wringing, Difficul... |
ORPHA:505652 |
Landau-Kleffner Syndrome |
|
Frequent falls, Steppage gait, Aggressive behavior, Speech apraxia, Hyperactivity, Slurred speech... |
ORPHA:98818 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Limb hypertonia, Chorea, Aggressive behavior, Abnormality of extrapyramidal motor funct... |
ORPHA:500180 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Irritability, Stereotypical hand wringing, Spasticity |
ORPHA:500545 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Stereotypy, Inability to walk, Death in childhood, Anxiety, Gait ataxia, ... |
DECIPHER:45 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
Female Restricted Epilepsy With Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety |
ORPHA:101039 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Self-injurious behavior, Chore... |
ORPHA:382 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Low self esteem, Punding, Abnormal social behavior, Anxiety, Attention deficit hy... |
ORPHA:64280 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Mental Retardation, Autosomal Recessive 41 |
|
Anxiety, Stereotypy |
OMIM:615637 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Dystonia, Happy demeanor, Poor eye contact, Stereotypy, Spasticity, Unsteady gait, Gait ataxia, D... |
OMIM:617807 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait, Recurrent hand flapping |
OMIM:615516 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617044 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Hypokinesia |
OMIM:300073 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Hyperactivity,... |
ORPHA:228360 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Christianson Syndrome |
|
Dystonia, Conspicuously happy disposition, Inappropriate laughter, Stereotypy, Truncal ataxia, De... |
ORPHA:85278 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Mood swings, Limb hypertonia, Opisthotonus, Happy demeanor, Choreoathetosis, Paroxysmal bursts of... |
OMIM:619580 |
Obesity, Hyperphagia, And Developmental Delay |
|
Poor eye contact, Stereotypy |
OMIM:613886 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Self-injurious behavior, Chorea, Aggressive behavior, Myoclonus, Lower lim... |
ORPHA:485350 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Spasticity, Anxiety, Depression |
OMIM:619467 |
Developmental And Epileptic Encephalopathy 30 |
|
Death in infancy, Stereotypy |
OMIM:616341 |
Arthrogryposis Multiplex Congenita 5 |
|
Dystonia, Death in infancy, Hand tremor, Hypertonia, Akinesia |
OMIM:618947 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Paroxysmal dystonia, Suicidal ideation, Stereotypy, Anxiety, Attention def... |
ORPHA:98784 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Cerebral palsy, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, L... |
ORPHA:163681 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Hypokinesia |
OMIM:610498 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Hyperkinetic movements, Anxiety |
OMIM:271980 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Happy demeanor, Inappropriate laughter, Stereotypy, Hyperactivity, Ataxia, Inco... |
OMIM:614104 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Self-mutilation, Stereotypy, Tremor, Hyperkinetic moveme... |
ORPHA:457240 |
Dpagt1-Cdg |
|
Aggressive behavior, Tremor, Stereotypical body rocking, Ataxia, Inability to walk, Hypertonia, E... |
ORPHA:86309 |
Dystonia 26, Myoclonic |
|
Torticollis, Myoclonus, Laryngeal dystonia, Depression, Anxiety, Blepharospasm |
OMIM:616398 |
African Trypanosomiasis |
|
Involuntary movements, Gait disturbance, Paralysis, Choreoathetosis, Narcolepsy, Aggressive behav... |
ORPHA:3385 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Happy demeanor, Hyperactivity, Hypertonia, Tics, Broad-based gait, Unsteady gait |
OMIM:617865 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Babinski sign, Narcolepsy, Ataxia, Resting tremor, Spasticity, Head tremor, Depression |
ORPHA:314404 |
Adenylosuccinase Deficiency |
|
Opisthotonus, Happy demeanor, Aggressive behavior, Myoclonus, Self-mutilation, Poor eye contact, ... |
OMIM:103050 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior, Babinski sign, Spasticity |
OMIM:617773 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonic spasms, Poor motor coordination, Stereotypy, Loss of ability to walk, Emoti... |
ORPHA:79264 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hypertonia, Spasticity... |
ORPHA:352490 |
Mercaptolactate-Cysteine Disulfiduria |
|
Hypokinesia |
OMIM:249650 |
Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... |
OMIM:619317 |
Myoclonic-Astatic Epilepsy |
|
Lack of peer relationships, Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Trem... |
ORPHA:1942 |
Distal Xq28 Microduplication Syndrome |
|
Self-biting, Aggressive behavior, Poor eye contact, Stereotypical body rocking, Tip-toe gait, Imp... |
ORPHA:293939 |
Autism, Susceptibility To, 3 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608049 |
Lamb-Shaffer Syndrome |
|
Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior |
ORPHA:530983 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Poor coordination, Tremor, Ataxia, Recurrent hand flapping, Impaired social int... |
ORPHA:544254 |
Poliomyelitis |
|
Paralysis, Low self esteem, Diminished movement, Fasciculations, Paraparesis, Inability to walk, ... |
ORPHA:2912 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Tetraplegia, Hyperactivity, Hypertonia, Lethargy |
OMIM:274270 |
Rett Syndrome, Congenital Variant |
|
Athetosis, Dystonia, Inappropriate crying, Chorea, Tongue thrusting, Poor eye contact, Stereotypy... |
OMIM:613454 |
Gand Syndrome |
|
Tics, Hyperactivity, Inappropriate laughter |
OMIM:615074 |
Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy, Cataplexy |
OMIM:223300 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Aggressive behavior, Stereotypy, Anxiety, Attention deficit hyperactivit... |
ORPHA:313892 |
Bilateral Generalized Polymicrogyria |
|
Dystonia, Self-injurious behavior, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid... |
ORPHA:208447 |
X-Linked Adrenoleukodystrophy |
|
Clumsiness, Gait disturbance, Paralysis, Aggressive behavior, Paraparesis, Progressive spastic pa... |
ORPHA:43 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Aggressive behavior, Myoclonus, Cortical myoclonus, Stereotypy, Hyperactivity, ... |
ORPHA:168491 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Aggressive behavior, Hyperactivity, Spasticity, Broad-based gait |
ORPHA:457260 |
Intermediate Nemaline Myopathy |
|
Difficulty walking, Hypokinesia |
ORPHA:171433 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Gait disturbance, Dystonia, Poor hand-eye coordination, Aggressive behavior, Stereotypy, Spastici... |
OMIM:300352 |
German Syndrome |
|
Hypokinesia |
OMIM:231080 |
2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Hyperactivity, Ataxia |
ORPHA:228402 |
Alg11-Cdg |
|
Limb hypertonia, Opisthotonus, Hypokinesia, Ataxia, Hypertonia, Impaired social interactions |
ORPHA:280071 |
Cri-Du-Chat Syndrome |
|
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Stereotypy, Hyperactivity,... |
OMIM:123450 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Stereotypy |
ORPHA:391307 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Progressive spasticity, Rigidity, Chorea, Poor eye contact, Lower limb spasticity, Stereotypy, Re... |
OMIM:300260 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Gait disturbance, Self-injurious behavior, Aggressive behavior, Conspicuously happy disposition, ... |
OMIM:300986 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia |
OMIM:619092 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Chorea, Exaggerated sta... |
ORPHA:309246 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Hypokinesia |
OMIM:615042 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
Rasmussen Subacute Encephalitis |
|
Involuntary movements, Hemidystonia, Hemiparesis, Hyperactivity, Inability to walk, Irritability,... |
ORPHA:1929 |
Narcolepsy 3 |
|
Narcolepsy, Cataplexy |
OMIM:609039 |
Narcolepsy 1 |
|
Narcolepsy, Cataplexy |
OMIM:161400 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Hypert... |
OMIM:610217 |
Coffin-Siris Syndrome 6 |
|
Tics, Attention deficit hyperactivity disorder, Anxiety, Stereotypy |
OMIM:617808 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Paraplegia, Stereotypy, Ataxia, Emotional lability, Anxiety, Lethargy |
ORPHA:927 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Self-biting, Aggressive behavior, Poor eye contact, Lower limb spasticity, Stereotypy, Hyperactiv... |
OMIM:300912 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Myoclonus, Poor eye contact, Stereotypy |
ORPHA:411986 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oculogyric c... |
ORPHA:178469 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618504 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Myoclonus, Ataxia, Hypertonia, Oculomotor apraxia, Disinhibition, Apraxia, Abnormal social behavi... |
ORPHA:1020 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Recurrent hand flapping, Inappropriate laughter, Spasticity |
OMIM:618859 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:300558 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Broad-based gait, Stereotypy |
OMIM:301029 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
Snijders Blok-Campeau Syndrome |
|
Unsteady gait, Speech apraxia, Broad-based gait, Stereotypy |
OMIM:618205 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Dystonia, Babinski sign, Frequent falls, Progressive gait ataxia, Decerebrate rigidit... |
ORPHA:309256 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior, Spasticity |
OMIM:615286 |
Narcolepsy 7 |
|
Narcolepsy, Cataplexy |
OMIM:614250 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Happy demeanor, Myoclonus, Tongue thrusting, Inappropriate laughter, Tremor, Atax... |
ORPHA:98794 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting, Stereotypy |
ORPHA:3306 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abno... |
ORPHA:363400 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Dystonia, Babinski sign, Frequent falls, Progressive gait ataxia, Intention tremor, D... |
ORPHA:309263 |
Hyperekplexia 1 |
|
Frequent falls, Myoclonus, Exaggerated startle response, Hypokinesia, Hypertonia |
OMIM:149400 |
48,Xxyy Syndrome |
|
Stereotypy, Tremor, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression |
ORPHA:10 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
Alazami-Yuan Syndrome |
|
Hyperactivity |
OMIM:617126 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Tetraplegia, Hyperactivity, Aggressive behavior, Abnormal pyramidal sign |
ORPHA:369939 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Self-mutilation, Stereotypy, Hyperactivity, Low frustration tolerance, Spasticity, Gait ataxia |
OMIM:300486 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Babinski sign, Scissor gait, Dysmetria, Spastic gait, Aggressive behavior, Spastic tetraplegia, S... |
OMIM:619121 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait disturbance, Rigidity, Frequent falls, Bipolar affective disorder, Abnormality of extrapyram... |
ORPHA:254892 |
Typical Nemaline Myopathy |
|
Fatiguable weakness of proximal limb muscles, Gait disturbance, Hypokinesia, Waddling gait, Fatig... |
ORPHA:171436 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Dystonia, Babinski sign, Frequent falls, Chorea, Progressive gait ataxia, Intention t... |
ORPHA:309271 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia, Hyperkinetic movements |
OMIM:617302 |
Fragile X Syndrome |
|
Hyperactivity, Poor eye contact |
OMIM:300624 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Chorea, Self-mutilation, Hyperactivity, Ataxia, Hypertonia |
ORPHA:52503 |
Infantile Neuroaxonal Dystrophy |
|
Progressive spasticity, Dystonia, Gait disturbance, Spastic tetraparesis, Hyperactivity, Ataxia, ... |
ORPHA:35069 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self-mutilation, Head-banging, Stereotypy |
OMIM:182290 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Happy demeanor, Tongue thrusting, Inappropriate laughter, Ataxia, Broad-based gai... |
ORPHA:411511 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Oromotor apraxia, Repetitive compulsive behavior, Spasticity, Anxiety, Attention deficit hyperact... |
ORPHA:391372 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Aggressive behavior, Hyperactivity, Spasticity, Broad-based gait |
OMIM:300958 |
Angelman Syndrome |
|
Happy demeanor, Self-injurious behavior, Aggressive behavior, Myoclonus, Tongue thrusting, Poor e... |
ORPHA:72 |
Radio-Tartaglia Syndrome |
|
Gait imbalance, Aggressive behavior, Poor eye contact, Stereotypy, Tremor, Ataxia, Impulsivity, A... |
OMIM:619312 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness, Attention deficit hyperactivity disorder, Low frustration tolerance, Stereotypy |
OMIM:619293 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Poor eye contact, Stereotypy |
OMIM:610883 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, Recurrent hand flapping |
OMIM:617268 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Poor eye contact, Stereotypy, Ataxia, Head tremor, No social interaction |
OMIM:619428 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Dystonia, Choreoathetosis, Self-biting, Chorea, Self-mutilation, Poor eye contact, Stereotypy, Re... |
ORPHA:522077 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dystonia, Delayed social development, Torticollis, Spastic ataxia, Stereotypy, Spastic tetraplegi... |
ORPHA:300570 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Aggressive behavior, Tremor, Hyperactivity, Gait ataxia |
OMIM:300354 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Impaired social int... |
ORPHA:261197 |
Alazami Syndrome |
|
Anxiety, Self-mutilation, Stereotypical hand wringing, Stereotypy |
ORPHA:319671 |
Rett Syndrome |
|
Dystonia, Gait disturbance, Limb apraxia, Bradykinesia, Stereotypy, Inability to walk, Stereotypi... |
ORPHA:778 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Anxiety, Stereotypy |
ORPHA:397612 |
Myopathy With Extrapyramidal Signs |
|
Clumsiness, Dystonia, Clonus, Choreoathetosis, Frequent falls, Chorea, Abnormality of extrapyrami... |
OMIM:615673 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Stereotypy |
ORPHA:238750 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb hypertonia, Self-injurious behavior, Poor eye contact, Stereotypy, Inability to walk, Spasti... |
ORPHA:457351 |
22Q11.2 Duplication Syndrome |
|
Anxiety, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:1727 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
Limbic Encephalitis With Nmda Receptor Antibodies |
|
Involuntary movements, Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Anxiety, Chorea, Myoclo... |
ORPHA:217253 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Hyperactivity, Hypertonia, Ataxia, Depression, Bipolar affective disorder |
OMIM:601853 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Self-injurious behavior, Aggressive behavior, Stereotypy, Hypertonia, Impulsivity |
OMIM:618914 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hyperactivity, Aggressive behavior |
OMIM:616809 |
German Syndrome |
|
Hypokinesia |
ORPHA:2077 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Hyperactivity, Spastic parap... |
OMIM:609727 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Poor coordination, Aggressive behavior, Hyperactivity, Ataxia, Spasticity, Anxiety |
OMIM:618430 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity |
OMIM:613684 |
Microphthalmia-Brain Atrophy Syndrome |
|
Inappropriate crying, Tongue thrusting, Spasticity |
ORPHA:77299 |
Choreoacanthocytosis |
|
Self-injurious behavior, Oromandibular dystonia, Apathy, Phonic tics, Irritability, Anxiety, Hair... |
ORPHA:2388 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Impaired socia... |
OMIM:309520 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Aggressive behavior, Hyperactivity, Ataxia, Incoordination, Overfriendliness, Spastic paraparesis |
ORPHA:369891 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Stereotypy |
OMIM:618825 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apathy, Repetitive compulsive behavior, Hypersexuality, Apraxia, Disinhibition, Parkinsonism |
OMIM:607485 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Self-mutilation, Lower limb spasticity, Inappropriate laughter, Tics, Hyperactivity, Low frustrat... |
ORPHA:363686 |
Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Tongue thrusting, Poor eye contact, Stereotypy, Broad-based gait, Unsteady g... |
OMIM:606232 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy, Self-injurious behavior, Aggressive behavior, Emotional lability, Impaired social int... |
ORPHA:293987 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:600430 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... |
ORPHA:139396 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypokinesia |
OMIM:613320 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles |
ORPHA:166108 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Clonus, Hair-pulling, Myoclonic spasms, Lower limb spasticity, Stereotypy, Hyperactivity, Hyperto... |
ORPHA:447997 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity |
ORPHA:397973 |
Mental Retardation, Autosomal Dominant 40 |
|
Gait ataxia, Stereotypy |
OMIM:616579 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Myopathy, Centronuclear, X-Linked |
|
Hypokinesia |
OMIM:310400 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:488618 |
Smith-Magenis Syndrome |
|
Gait disturbance, Self-injurious behavior, Stereotypy, Anxiety, Attention deficit hyperactivity d... |
ORPHA:819 |
Ritscher-Schinzel Syndrome 4 |
|
Athetosis, Chorea, Aggressive behavior, Stereotypy, Ataxia, Impulsivity |
OMIM:619435 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Self-mutilation, Stereotypy, Tremor, Attention deficit hyperactivity disorde... |
ORPHA:476126 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Myoclonus, Poor eye contact, Stereotypy |
OMIM:300672 |
47,Xyy Syndrome |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impaired social interactions, Impulsivity |
ORPHA:8 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Head-banging, Stereotypy |
OMIM:619103 |
Leber Congenital Amaurosis 1 |
|
Eye poking |
OMIM:204000 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tetraparesis, Stereotypy |
ORPHA:85277 |
Developmental And Epileptic Encephalopathy 87 |
|
Recurrent hand flapping, Hypertonia |
OMIM:618916 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Babinski sign, Aggressive behavior, Shuffling gait, Hyperactivity, Lower limb hypertonia, Low fru... |
OMIM:300534 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Stereotypy |
OMIM:616351 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting |
ORPHA:485405 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Cerebral palsy, Poor eye contact, Isometric tremor, Stereotypy, Irritability, Anxiet... |
OMIM:619475 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Chromosome 10Q26 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:609625 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral palsy, Hyperactivity, Hypertonia, Ataxia, Spasticity, Abnormal central motor function, S... |
ORPHA:760 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Stereotypy, Ataxia, Low frustration tolerance, Unsteady gait |
ORPHA:457279 |
Kohlschutter-Tonz Syndrome-Like |
|
Upper limb spasticity, Myoclonus, Lower limb spasticity, Stereotypy, Tremor, Ataxia, Inability to... |
OMIM:619229 |
Severe Congenital Nemaline Myopathy |
|
Hypokinesia |
ORPHA:171430 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Self-mutilation, Stereotypy, Hypertonia, Unsteady gait |
OMIM:212066 |
Angelman Syndrome |
|
Clumsiness, Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, B... |
OMIM:105830 |
Argininemia |
|
Frequent falls, Spastic gait, Hyperactivity, Irritability, Progressive spastic quadriplegia, Spas... |
OMIM:207800 |
Mend Syndrome |
|
Hyperactivity, Hypertonia |
OMIM:300960 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Spasticity |
ORPHA:401777 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Stereotypy |
OMIM:615873 |
Prader-Willi Syndrome Due To Translocation |
|
Skin-picking, Happy demeanor, Stereotypy, Attention deficit hyperactivity disorder, Abnormal soci... |
ORPHA:177907 |
7Q11.23 Microduplication Syndrome |
|
Dysmetria, Self-injurious behavior, Aggressive behavior, Stereotypy, Hyperactivity, Unsteady gait... |
ORPHA:96121 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
Pediatric-Onset Graves Disease |
|
Mood swings, Tremor, Hyperactivity, Irritability, Hyperkinetic movements |
ORPHA:525731 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus, Stereotypical hand wringing |
ORPHA:289266 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior |
OMIM:252920 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Self-mutilation |
ORPHA:412035 |
Mental Retardation, Autosomal Dominant 48 |
|
Stereotypy |
OMIM:617751 |
Glass Syndrome |
|
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait |
OMIM:612313 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:435638 |
Cystinosis |
|
Gait disturbance, Abnormal pyramidal sign, Stereotypy |
ORPHA:213 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Self-injurious behavior, Stereotypy, Inability to walk, Hypertonia, Recurrent h... |
OMIM:615485 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Progressive spasticity, Dystonia, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Spa... |
ORPHA:496641 |
19P13.3 Microduplication Syndrome |
|
Self-injurious behavior, Hyperactivity, Irritability |
ORPHA:447980 |
Brain-Lung-Thyroid Syndrome |
|
Clumsiness, Dystonia, Involuntary movements, Choreoathetosis, Chorea, Myoclonus, Falls, Intention... |
ORPHA:209905 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Attention deficit hyperactivity disorder, Self-mutilation, Death in childhood, Stereotypy |
OMIM:619005 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Inappropriate crying, Self-injurious behavior, Tongue thrusting, Hyperactivity, Stereotypical bod... |
ORPHA:261323 |
Citrullinemia Type Ii |
|
Aggressive behavior, Tremor, Hyperactivity, Irritability, Lethargy |
ORPHA:247585 |
Niemann-Pick Disease, Type C2 |
|
Dystonia, Cataplexy, Stereotypy, Ataxia, Spasticity |
OMIM:607625 |
5Q14.3 Microdeletion Syndrome |
|
Stereotypy |
ORPHA:228384 |
White-Sutton Syndrome |
|
Self-injurious behavior, Aggressive behavior, Stereotypy, Hyperactivity, Incoordination |
ORPHA:468678 |
Tuberous Sclerosis Complex |
|
Self-injurious behavior, Aggressive behavior, Repetitive compulsive behavior, Hyperactivity, Impu... |
ORPHA:805 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity |
OMIM:614613 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Tongue thrusting, Gait imbalance, Broad-based gait |
ORPHA:98795 |
Wiedemann-Steiner Syndrome |
|
Aggressive behavior, Stereotypy, Hyperactivity, Low frustration tolerance, Anxiety |
ORPHA:319182 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Dysmetria, Aggressive behavior, Intention tremor, Ataxia, Nonprogressive cerebellar ataxia, Abnor... |
ORPHA:314647 |
Pyruvate Carboxylase Deficiency |
|
Dystonia, Apathy, Poor eye contact, Tremor, Ataxia, Tip-toe gait, Abnormal pyramidal sign, Recurr... |
ORPHA:3008 |
Kleefstra Syndrome 1 |
|
Aggressive behavior, Apathy, Stereotypy |
OMIM:610253 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Danon Disease |
|
Hypokinesia |
OMIM:300257 |
X-Linked Intellectual Disability, Cabezas Type |
|
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:85293 |
Intellectual Disability-Strabismus Syndrome |
|
Gait disturbance, Aggressive behavior, Hyperactivity, Spasticity, Impulsivity |
ORPHA:363528 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:73272 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Head-banging, Stereotypy |
OMIM:619575 |
Dilated Cardiomyopathy With Ataxia |
|
Dystonia, Lower limb spasticity, Repetitive compulsive behavior, Ataxia, Action tremor |
ORPHA:66634 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity |
OMIM:252900 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Stereotypy |
ORPHA:500159 |
2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:1001 |
Chromosome 5P13 Duplication Syndrome |
|
Stereotypy |
OMIM:613174 |
Bainbridge-Ropers Syndrome |
|
Inability to walk, Recurrent hand flapping, Hypertonia |
ORPHA:352577 |
Hyperlysinemia |
|
Clumsiness, Opisthotonus, Poor motor coordination, Dysmetria, Tremor, Hyperactivity, Neck hyperto... |
ORPHA:2203 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Babinski sign, Inappropriate laughter, Stereotypy, Hypertonia, Spasticity |
OMIM:615802 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Stereotypy |
ORPHA:2479 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Stereotypy |
ORPHA:529965 |
Kleefstra Syndrome |
|
Self-injurious behavior, Aggressive behavior, Self-mutilation, Stereotypy |
ORPHA:261494 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353281 |
Joubert Syndrome 1 |
|
Aggressive behavior, Self-mutilation, Oculomotor apraxia, Hyperactivity, Ataxia, Hemifacial spasm |
OMIM:213300 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Hypokinesia |
ORPHA:258 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Poor motor coordination, Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait |
OMIM:614756 |
Posterior Meningocele |
|
Upper limb spasticity, Paraplegia, Hypokinesia, Hypertonia, Difficulty walking |
ORPHA:268810 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Opisthotonus, Stereotypy, Inability to walk, Hypertonia, No social interaction |
ORPHA:508533 |
Hydroxykynureninuria |
|
Hypertonia, Stereotypy |
ORPHA:79155 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gait disturbance, Attention deficit hyperactivity disorder, Anxiety, Stereotypy |
ORPHA:464311 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, Hyperactivity, Anxiety, Stereotypy |
OMIM:619512 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Stereotypy |
ORPHA:261144 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Gait disturbance, Anxiety, Stereotypy |
ORPHA:464306 |
Mend Syndrome |
|
Abnormal social behavior, Hyperactivity, Aggressive behavior, Limb hypertonia |
ORPHA:401973 |
Mucopolysaccharidosis Type 3 |
|
Gait disturbance, Loss of ambulation, Aggressive behavior, Vocal cord paresis, Hyperactivity, Ata... |
ORPHA:581 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity |
OMIM:252930 |
Early Infantile Epileptic Encephalopathy |
|
Dystonia, Choreoathetosis, Self-injurious behavior, Myoclonus, Tremor, Hyperactivity, Spasticity,... |
ORPHA:1934 |
Rat-Bite Fever |
|
Diminished movement |
ORPHA:31205 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Hyperactivity, Speech apraxia |
OMIM:618505 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Stereotypy, Hypertonia, Hyperkinetic movements, Spasticity, Abnormal pyr... |
ORPHA:468631 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor |
ORPHA:99819 |
Dyggve-Melchior-Clausen Disease |
|
Frequent falls, Spastic tetraparesis, Hyperactivity, Inability to walk, Difficulty walking |
ORPHA:239 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor |
ORPHA:424 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Aggressive behavior, Tongue thrusting, Broad-based gait, Hemiparesis |
ORPHA:369950 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Broad-based gait, Gait ataxia |
OMIM:617330 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Death in infancy, Self-injurious behavior, Stereotypy, Anxiety, Attention deficit hyperac... |
ORPHA:534 |
Mucopolysaccharidosis Type 2 |
|
Impulsivity, Hyperactivity, Aggressive behavior, Stereotypy |
ORPHA:580 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353277 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Spastic tetraparesis, Stereotypical hand wringing |
OMIM:619179 |
Legius Syndrome |
|
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder |
ORPHA:137605 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Aggressive behavior, Stereotypy |
OMIM:301066 |
Ogden Syndrome |
|
Hypertonia, Stereotypy |
OMIM:300855 |
Norrie Disease |
|
Clonus, Self-injurious behavior, Stereotypy, Hypertonia, Irritability, Anxiety, Attention deficit... |
ORPHA:649 |
Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Death in infancy, Stereotypy |
OMIM:619297 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Stereotypy, Repetitive compulsive behavior, Stereotypical body rocking, Broad-based gait, Gait at... |
ORPHA:513456 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Gait disturbance, Aggressive behavior, Ataxia, Hypertonia, Stereotypical hand wringing, Broad-bas... |
ORPHA:268261 |
Cardiofaciocutaneous Syndrome 1 |
|
Oculomotor apraxia, Hypertonia, Tongue thrusting |
OMIM:115150 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Unsteady gait, Stereotypy |
OMIM:616682 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Spastic diplegia, Poor coordination, Stereotypy |
OMIM:309590 |
Rubinstein-Taybi Syndrome 1 |
|
Abnormal fear/anxiety-related behavior, Poor coordination, Agoraphobia, Self-mutilation, Stereoty... |
OMIM:180849 |
Arboleda-Tham Syndrome |
|
Gait imbalance, Lower limb hypertonia, Stereotypy |
OMIM:616268 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Difficulty walking, Stereotypy |
OMIM:618653 |
Brooks-Wisniewski-Brown syndrome |
|
Hyperactivity, Spastic diplegia, Poor coordination |
OMIM:300612 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Self-mutilation, Hyperactivity, Impulsivity, Difficulty walking, Abnormal emotion/affect behavior... |
ORPHA:642 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Gait disturbance, Hemiplegia/hemiparesis, Stereotypy |
ORPHA:1606 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Spastic tetraparesis, Hypertonia, Poor eye contact, Stereotypy |
OMIM:301044 |
Mgat2-Cdg |
|
Stereotypical hand wringing |
ORPHA:79329 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Stereotypy |
ORPHA:508498 |
Primrose Syndrome |
|
Self-injurious behavior, Aggressive behavior, Stereotypy, Tics, Anxiety |
OMIM:259050 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Exaggerated startle response, Stereotypy |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Involuntary movements, Dystonia, Myoclonus, Exaggerated startle response, Inability to walk, Ster... |
ORPHA:438213 |
Lowe Oculocerebrorenal Syndrome |
|
Aggressive behavior, Stereotypy |
OMIM:309000 |
Mowat-Wilson Syndrome |
|
Happy demeanor, Stereotypy, Ataxia, Inability to walk, Spasticity, Broad-based gait, Anxiety, Imp... |
ORPHA:2152 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Falls, Stereotypical body rocking, Low frustration tolerance, Tip-toe gait, Broad-based gait, Imp... |
OMIM:619503 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Happy demeanor, Stereotypy, Inability to walk, Poor fine motor coordination, Spasticity, Broad-ba... |
ORPHA:261537 |
Coffin-Siris Syndrome 12 |
|
Stereotypy |
OMIM:619325 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Happy demeanor, Stereotypy, Inability to walk, Poor fine motor coordination, Spasticity, Broad-ba... |
ORPHA:261552 |
Wolf-Hirschhorn Syndrome |
|
Stereotypy |
OMIM:194190 |