Neuropathy, Hereditary Sensory, Atypical |
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Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
Severe Primary Trimethylaminuria |
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Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
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Depression, Attention deficit hyperactivity disorder |
OMIM:613003 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
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Anxiety |
OMIM:614346 |
Panic Disorder 1 |
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Anxiety |
OMIM:167870 |
Posterior Column Ataxia |
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Impaired proprioception, Impaired vibratory sensation, Ataxia |
OMIM:176250 |
Obsessive-Compulsive Disorder |
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Depression, Anxiety, Skin-picking |
OMIM:164230 |
Myasthenic Syndrome, Congenital, 18 |
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Ataxia, Fatigable weakness, Difficulty walking |
OMIM:616330 |
Spinocerebellar Ataxia, X-Linked 2 |
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Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Spinocerebellar Ataxia Type 23 |
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Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavio... |
ORPHA:401901 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Spinocerebellar Ataxia 45 |
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Ataxia, Gait ataxia, Limb ataxia |
OMIM:617769 |
Myoclonus, Familial, 1 |
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Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Creutzfeldt-Jakob Disease |
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Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Memory imp... |
OMIM:123400 |
Ataxia With Fasciculations |
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Fasciculations, Ataxia |
OMIM:108700 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... |
OMIM:615483 |
Huntington Disease-Like 1 |
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Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordinat... |
OMIM:603218 |
Geniospasm 1 |
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Anxiety |
OMIM:190100 |
Huntington Disease-Like 2 |
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Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Weight loss, Irritabi... |
OMIM:606438 |
Immunodeficiency 8 |
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Hyperactivity |
OMIM:615401 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
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Ataxia, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:617584 |
Spinocerebellar Ataxia Type 15/16 |
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Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Spinocerebellar Ataxia 35 |
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Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Epilepsy, Progressive Myoclonic, 12 |
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Ataxia, Dysmetria, Depression, Anxiety, Difficulty walking, Attention deficit hyperactivity disorder |
OMIM:619191 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
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Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
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Anxiety, Attention deficit hyperactivity disorder, Bradykinesia |
OMIM:618878 |
Lichtenstein-Knorr Syndrome |
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Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
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Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
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Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Memory impairment, Falls, Mo... |
ORPHA:412066 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
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Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
Spinocerebellar Ataxia 12 |
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Action tremor, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety,... |
OMIM:604326 |
Spinocerebellar Ataxia 48 |
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Ataxia, Dysmetria, Mental deterioration, Cachexia, Depression, Anxiety, Babinski sign, Parkinsoni... |
OMIM:618093 |
Glycine Encephalopathy |
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Impulsivity, Hyperactivity, Aggressive behavior, Lethargy, Irritability |
OMIM:605899 |
Smith-Magenis syndrome |
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Hyperactivity, Self-mutilation |
DECIPHER:8 |
Pandas |
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Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Developmental And Epileptic Encephalopathy 43 |
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Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Impulsivity |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
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Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
Microcephaly, Seizures, And Developmental Delay |
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Ataxia, Hyperactivity |
OMIM:613402 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:604317 |
Juvenile Huntington Disease |
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Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Depression,... |
ORPHA:248111 |
Hyperprolinemia, Type I |
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Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Childhood Disintegrative Disorder |
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Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Ment... |
ORPHA:168782 |
Developmental And Epileptic Encephalopathy 104 |
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Self-injurious behavior, Hyperactivity |
OMIM:619970 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Gait disturbance, Inability to walk, Hyperactivity, Dysmetria |
OMIM:618090 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... |
ORPHA:3077 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Hypertonia, Ataxia, Abnormal social behavior, Semantic dementia, Myoclonus, Parkinsonism, Memory ... |
ORPHA:1020 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... |
OMIM:619738 |
Intellectual Developmental Disorder, X-Linked 109 |
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Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:309548 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Self-injurious behavior, Hyperactivity, Bradykinesia, Inappropriate behavior, Self-biting, Nail-b... |
OMIM:619827 |
Fraxe Intellectual Disability |
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Impulsivity, Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Phenylketonuria |
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Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Lennox-Gastaut Syndrome |
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Personality disorder, Hyperactivity, Aggressive behavior, Falls |
ORPHA:2382 |
Fragile X Tremor/Ataxia Syndrome |
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Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Mental dete... |
OMIM:300623 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear/anxiety-related behavior, Exaggerated startle response, Short stature, Cognitive im... |
ORPHA:309246 |
Gerstmann-Straussler Disease |
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Bradykinesia, Limb ataxia, Depression, Myoclonus, Parkinsonism, Truncal ataxia, Memory impairment... |
OMIM:137440 |
Chromosome 3Q29 Deletion Syndrome |
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Gait ataxia, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:609425 |
Landau-Kleffner Syndrome |
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Hyperactivity, Impulsivity, Depression, Anxiety, Gait ataxia, Attention deficit hyperactivity dis... |
ORPHA:98818 |
Guanidinoacetate Methyltransferase Deficiency |
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Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior |
ORPHA:382 |
Morm Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Broad-based gait, Hyperactivity, Aggressive behavior |
OMIM:619470 |
Dentatorubral Pallidoluysian Atrophy |
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Ataxia, Dyssynergia, Progressive cerebellar ataxia, Action tremor, Limb ataxia, Cognitive impairm... |
ORPHA:101 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:300983 |
Mannosidosis, Beta A, Lysosomal |
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Hyperactivity, Aggressive behavior |
OMIM:248510 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Coffin-Siris Syndrome 8 |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Attention deficit hyperactivity disorder, Bipolar affective disorder, Hyperactivity |
OMIM:619927 |
Xq25 Microduplication Syndrome |
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Anxiety, Hyperactivity |
ORPHA:521258 |
Early-Onset Schizophrenia |
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Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:271980 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior |
OMIM:612716 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter |
ORPHA:411515 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
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Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation |
OMIM:615516 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Self-injurious behavior, Inability to walk, Hyperactivity, Paroxysmal bursts of laughter |
OMIM:618718 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
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Progressive cerebellar ataxia, Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggre... |
ORPHA:485350 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Depression, Intentio... |
ORPHA:309271 |
Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
Female Restricted Epilepsy With Intellectual Disability |
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Impulsivity, Anxiety, Hyperactivity, Aggressive behavior |
ORPHA:101039 |
Cln5 Disease |
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Ataxia, Inability to walk, Hyperactivity, Dysmetria, Dysdiadochokinesis, Anxiety, Truncal ataxia,... |
ORPHA:228360 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
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Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait |
OMIM:617865 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
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Broad-based gait, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Inability to walk, Impulsivity, Hyperactivity, Gait ataxia, Aggressive behavior |
ORPHA:500180 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, De... |
ORPHA:309263 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... |
ORPHA:449291 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Neonatal hypoglycemia |
OMIM:617600 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Impulsivity, Hyperactivity |
OMIM:300143 |
X-Linked Adrenoleukodystrophy |
|
Inappropriate sexual behavior, Hyperactivity, Gait disturbance, Attention deficit hyperactivity d... |
ORPHA:43 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavi... |
OMIM:103050 |
Niemann-Pick Disease Type C |
|
Ataxia, Cataplexy, Abnormal social behavior, Mental deterioration, Chorea, Tremor, Lower limb spa... |
ORPHA:646 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:610042 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Bradykinesia, Dysmetria, Impulsivity, Dysdiadochokinesis, Gait ataxia, Emotional l... |
OMIM:610217 |
X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Ataxia, Hyperactivity, Athetosis |
ORPHA:52503 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Hyperactivity, Self-mutilation, Low frustration tolerance, Aggressive behavior, Skin-picking |
ORPHA:163681 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Emotional lability |
OMIM:620047 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Inability to walk, Poor eye contact, Small for gestational age, Short stature, Hyperkinet... |
OMIM:617799 |
Argininemia |
|
Spastic gait, Hyperactivity, Irritability |
OMIM:207800 |
Choreoacanthocytosis |
|
Loss of ambulation, Apathy, Hyperactivity, Bradykinesia, Self-injurious behavior, Irritability, D... |
ORPHA:2388 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Akinesia, Ataxia, Hyperactivity, Bradykinesia, Depression, Gait disturbance, Choreoathetosis |
OMIM:234200 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Self-injurious behavior, Short stature, Chorea, Spasticity, Eyelid myoclonus |
ORPHA:178469 |