Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness, Ataxia, Difficulty walking |
OMIM:616330 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spinocerebellar Ataxia Type 23 |
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Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... |
ORPHA:101108 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... |
ORPHA:401901 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Irritability, Hyperactivity |
OMIM:616657 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Myoclonus, Attention deficit hyperactivity disorder, Difficulty wa... |
OMIM:619191 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Short stature, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ata... |
OMIM:276880 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia... |
OMIM:618093 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Parkinsonism, Confusion, Aggressive behavior, Rigidity, Chorea, Dysmetr... |
OMIM:607136 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Rigidity, Postnatal growth retardation, Choreoathetosis, Ga... |
ORPHA:391417 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Confusion, Hypertonia, Agitation, Disinhibition, Myoclonus, Apraxia, Oculom... |
ORPHA:1020 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Delirium |
ORPHA:208441 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... |
ORPHA:248111 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Growth delay, Hypertonia, ... |
OMIM:619738 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradyk... |
OMIM:137440 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis |
ORPHA:382 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio... |
ORPHA:98818 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Chorea, Babinski sign, Progressive psychomotor deterioration, Spasticity, D... |
ORPHA:309271 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Mild postnatal growth retardation, Abnormal temper tantrums, Abnormal soci... |
ORPHA:530983 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Babinski sign, Progressive psychomotor deterioration, Spasticity, Clumsines... |
ORPHA:309263 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Irritability, Self-injurious b... |
ORPHA:449291 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Babinski sign, Spasticity, Gait ataxia, Clumsiness, Progressive gait ataxia, Tip-toe gait, Decere... |
ORPHA:309256 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, A... |
ORPHA:100924 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ... |
OMIM:610217 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg ... |
ORPHA:314647 |
Childhood Absence Epilepsy |
|
Depression, Punding, Attention deficit hyperactivity disorder, Limb myoclonus, Abnormal social be... |
ORPHA:64280 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Argininemia |
|
Irritability, Hyperactivity, Spastic gait, Anorexia |
OMIM:207800 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Gait dis... |
OMIM:234200 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Short stature, Small for gestational age, Aggressive behavior, Ina... |
OMIM:617799 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... |
ORPHA:353277 |