| Dystonia 16 |
|
Postural tremor, Dysphagia, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Pa... |
ORPHA:210571 |
| Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysphagia, Rigidity, Bradykinesia, Dysdiadochokinesis |
ORPHA:228169 |
| Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Atax... |
ORPHA:401901 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Shyness, Gait ataxia, Aggressive behavior |
OMIM:618221 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysphagia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism |
OMIM:618317 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... |
OMIM:615528 |
| Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:613643 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
| 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 |
| Autism, Susceptibility To, X-Linked 4 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity, Motor tics |
OMIM:300830 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
| Dystonia 16 |
|
Postural tremor, Gait disturbance, Dysphagia, Involuntary movements, Parkinsonism, Bradykinesia, ... |
OMIM:612067 |
| Dystonia 12 |
|
Dystonia, Dysphagia, Torticollis, Bradykinesia, Unsteady gait, Parkinsonism |
OMIM:128235 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Falls, Shuffling gait, Bradykinesia, Resting tremor, Short stepped shuffling gait, Park... |
ORPHA:306692 |
| Phosphoserine Phosphatase Deficiency |
|
Intrauterine growth retardation, Hypertonia, Postnatal growth retardation, Cerebral atrophy, Micr... |
OMIM:614023 |
| Hypermanganesemia With Dystonia 2 |
|
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... |
OMIM:617013 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Impaired social interactions, Stereotypy |
OMIM:606053 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intenti... |
ORPHA:98762 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait a... |
ORPHA:71517 |
| Childhood Disintegrative Disorder |
|
Dementia, Anxiety, Social and occupational deterioration, Stereotypy, Mental deterioration, Motor... |
ORPHA:168782 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... |
ORPHA:101110 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... |
ORPHA:240103 |
| Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Spastic gait, Bradykinesia, Spastic tetraparesis, Abnormal pyramidal sign |
OMIM:619052 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... |
ORPHA:521406 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Inappropriate behavior, Abulia, Aggressive behavior, Abnormality of extrapyrami... |
ORPHA:275864 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Babinski sign, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... |
OMIM:300423 |
| 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 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... |
OMIM:617384 |
| Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
| Mental Retardation, Autosomal Dominant 45 |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Impaired oropharyng... |
ORPHA:53351 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Babinski sign, Rigidity, Bradykinesia, Hypertonia, Generalized dystonia, Parkinsonism, Limb ataxi... |
OMIM:618824 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Abnormal neuron morphology, Shuffling gait, Bradykinesia, Falls, Short stepped shuffling gait, Pa... |
ORPHA:412066 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
| Huntington Disease-Like 2 |
|
Dystonia, Dementia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety,... |
OMIM:606438 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:605909 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Gait disturbance, Babinski sign, Rigidity, Frequent falls, Spastic gait, Lower limb spasticity, B... |
ORPHA:100984 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Dysphagia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkins... |
OMIM:261640 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity |
OMIM:183050 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
OMIM:609161 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Gait disturbance, Dystonia, Inappropriate behavior, Rigidity, Aggressive behavior,... |
OMIM:600795 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... |
ORPHA:101150 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... |
OMIM:615643 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| Hereditary Geniospasm |
|
Abnormal social behavior, Chin myoclonus |
ORPHA:53372 |
| Spinocerebellar Ataxia 17 |
|
Dystonia, Dysphagia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Intention tremor, Atax... |
OMIM:607136 |
| Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity diso... |
OMIM:619191 |
| Creutzfeldt-Jakob Disease |
|
Dementia, Myoclonus, Apathy, Extrapyramidal muscular rigidity, Hemiparesis, Irritability, Anxiety... |
OMIM:123400 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Babinski sign, Spastic tetraplegia, Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
| Dopa-Responsive Dystonia |
|
Irritability, Panic attack, Anxiety, Abnormal social behavior, Oculogyric crisis, Lethargy, Gait ... |
ORPHA:255 |
| Pick Disease Of Brain |
|
Apathy, Inappropriate laughter, Stereotypy, Emotional blunting, Irritability, Diminished motivati... |
OMIM:172700 |
| Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Bradykinesia, Rigidity |
ORPHA:306686 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Dysphagia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, A... |
OMIM:617435 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... |
OMIM:300894 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Self-mutilation, Phonic tics, Motor tics, Attention deficit hyperactivity di... |
OMIM:137580 |
| Myoclonus-Dystonia Syndrome |
|
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Personality d... |
ORPHA:36899 |
| Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... |
ORPHA:391411 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Clonus, Dysphagia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormal... |
ORPHA:13 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Mental deterioratio... |
OMIM:615924 |
| Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... |
OMIM:604326 |
| Lissencephaly, X-Linked, 1 |
|
Pachygyria, Ataxia, Postnatal growth retardation, Agyria, Spasticity, Gray matter heterotopia, Li... |
OMIM:300067 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Spasticity |
OMIM:615493 |
| Juvenile Huntington Disease |
|
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia... |
ORPHA:248111 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Dysphagia, Babinski sign, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykines... |
OMIM:606159 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety, Depression |
OMIM:159900 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Leukoencephalopathy, Abnormal cerebral white matter morphology, Tremor, Diffuse ce... |
OMIM:300660 |
| Huntington Disease-Like 1 |
|
Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Incoordination, Unsteady gait, Anxiet... |
OMIM:603218 |
| Kufor-Rakeb Syndrome |
|
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykine... |
OMIM:606693 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Falls, Bradykinesia, Spastic tetraplegia, Ataxia, Resting tremor, Sp... |
OMIM:617225 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Stereotypy |
DECIPHER:8 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Leukoencephalopathy, Tremor, Ataxia, Spasticity, Ce... |
OMIM:614561 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Spasticity |
ORPHA:356996 |
| Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:619279 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Motor tics, Parkinsonism, Anxiety, Dep... |
OMIM:615483 |
| Infantile Dystonia-Parkinsonism |
|
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypertonia, Abnorm... |
ORPHA:238455 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Dystonia, Gait disturbance, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
| Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Bradykinesia, Prog... |
ORPHA:97355 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia |
OMIM:617836 |
| Huntington Disease |
|
Clumsiness, Gait disturbance, Clonus, Involuntary movements, Gait imbalance, Dystonia, Polyphagia... |
ORPHA:399 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Gait disturbance, Dysphagia, Babinski sign, Rigidity, Frequent falls, Hand tremor, Shuf... |
ORPHA:289560 |
| Early-Onset Schizophrenia |
|
Shyness, Unhappy demeanor, Anxiety, Low self esteem, Suicidal ideation, Cognitive impairment, Lac... |
ORPHA:96369 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... |
ORPHA:99750 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking |
ORPHA:306669 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Leukoencephalopathy, Tremor, Ataxia, Spasticity |
OMIM:611105 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Myoclonus, Oculomotor apraxia, Hypertonia, Ataxia, Disinhibition, Ap... |
ORPHA:1020 |
| Huntington Disease |
|
Chorea, Gait ataxia, Bradykinesia, Rigidity |
OMIM:143100 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... |
ORPHA:240071 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Inappropriate crying, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic movement... |
ORPHA:397933 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Rigidity, Shuffling gait, Bradykinesia, Apraxia, Spasticity |
OMIM:221820 |
| Spinocerebellar Ataxia 14 |
|
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... |
OMIM:605361 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Apathy, Stereotypy, Emotional lability, Disinhibition, Spasticity, Frontotemporal ... |
OMIM:612069 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Poor coordination, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Impulsivity, R... |
OMIM:309548 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Poor eye contact, Tremor, Ataxia, Hyperactivity, Spasticity |
OMIM:300983 |
| Pandas |
|
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... |
ORPHA:66624 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... |
ORPHA:363654 |
| Fraxe Intellectual Disability |
|
Clumsiness, Aggressive behavior, Stereotypical body rocking, Hyperactivity, Impulsivity, Recurren... |
ORPHA:100973 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Atypical Rett Syndrome |
|
Involuntary movements, Gait disturbance, Dystonia, Inappropriate crying, Limb myoclonus, Panic at... |
ORPHA:3095 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Stereotypy |
OMIM:300271 |
| Spinocerebellar Ataxia 2 |
|
Postural tremor, Dysphagia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomo... |
OMIM:183090 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordinat... |
OMIM:615157 |
| Spinocerebellar Ataxia 48 |
|
Babinski sign, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental deterioration, P... |
OMIM:618093 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Short stature |
OMIM:312910 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Short stature, Stereotypy, Tremor, Ataxia, Progressive microcephaly, Hypoplasia of the corpus cal... |
OMIM:617862 |
| Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Gait disturbance, Dysphagia, Dystonia, Gait imbalance, Dysmetria, Chorea, Bradyk... |
ORPHA:98755 |
| Parkinson Disease 20, Early-Onset |
|
Dystonia, Dysphagia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Parkinsonism |
OMIM:615530 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Foxg1 Syndrome |
|
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Choreoathetosis, Cognitive impairm... |
ORPHA:561854 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Chorea, Cognitive impai... |
ORPHA:309246 |
| Developmental And Epileptic Encephalopathy 43 |
|
Seizure, Hyperactivity, Ataxia |
OMIM:617113 |
| Leber Optic Atrophy And Dystonia |
|
Athetosis, Dystonia, Dysphagia, Bradykinesia, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia |
OMIM:617270 |
| Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Falls, Hyperactivity, Atonic seizure, Focal-onset seiz... |
ORPHA:2382 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Falls, Inappropr... |
OMIM:619150 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Machado-Joseph Disease |
|
Dystonia, Dysphagia, Babinski sign, Rigidity, Abnormality of extrapyramidal motor function, Brady... |
OMIM:109150 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... |
OMIM:618877 |
| Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:227510 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait |
OMIM:619470 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Resting tremor, Bradykinesia, Rigidity |
OMIM:614251 |
| Parkinson Disease 21 |
|
Tremor, Parkinsonism, Bradykinesia, Rigidity |
OMIM:616361 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Leukoencephalopathy, Progressive leukoencephalopathy, Tremor, Ataxia, Periventricular leukomalaci... |
OMIM:615889 |
| Neuroferritinopathy |
|
Involuntary movements, Dystonia, Dysphagia, Arm dystonia, Leg dystonia, Babinski sign, Writer's c... |
ORPHA:157846 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Stereotypy, Ataxia, Hyperactivity, Spasticity, Impaired social interactions,... |
OMIM:610042 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Aggressive behavior, Hemiparesis, Spastic tetraparesis, Hyperactivity, Hypertonia, Impulsivity |
OMIM:604317 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Primary Progressive Freezing Gait |
|
Postural tremor, Babinski sign, Clonus, Dysphagia, Gait imbalance, Rigidity, Frequent falls, Shuf... |
ORPHA:75567 |
| N-Acetylaspartate Deficiency |
|
Unsteady gait, Self-mutilation, Truncal ataxia, Stereotypy |
OMIM:614063 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower limb spasticit... |
ORPHA:3077 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Dysphagia, Shuffling gait, Bradykinesia, Cogwheel rigidity, Parkinsonism with favorable response ... |
ORPHA:254886 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesia, Spastic tet... |
OMIM:300055 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... |
OMIM:613280 |
| Spinocerebellar Ataxia Type 29 |
|
Delayed social development, Dysmetria, Cognitive impairment, Intention tremor, Oculomotor apraxia... |
ORPHA:208513 |
| Hsd10 Disease |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Abnormal social behavior,... |
ORPHA:391417 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Abnormal ce... |
OMIM:607317 |
| Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300495 |
| Multiple System Atrophy |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:102 |
| Huntington Disease-Like 1 |
|
Clumsiness, Gait disturbance, Involuntary movements, Frequent falls, Dysmetria, Chorea, Bradykine... |
ORPHA:157941 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Hypoplasia of the corpus callosum, Spasticity |
OMIM:616494 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Limb hypertonia, Rigidity, Cerebral palsy, Bradykinesia, Tremor, Oculogyric crisis |
ORPHA:70594 |
| Landau-Kleffner Syndrome |
|
Frequent falls, Steppage gait, Aggressive behavior, Social and occupational deterioration, Speech... |
ORPHA:98818 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait disturbance, Dysphagia, Dystonia, Babinski sign, Chorea, Bradykinesia, Resting tremor, Hemip... |
ORPHA:225147 |
| Glycine Encephalopathy |
|
Aggressive behavior, Myoclonus, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
| Parkinson Disease 1, Autosomal Dominant |
|
Dystonia, Gait disturbance, Dysphagia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting... |
OMIM:168601 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Difficulty walking, Spasticity, Stereotypy |
OMIM:617393 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Stereotypy |
OMIM:239500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Bradykinesia |
OMIM:619063 |
| Young-Onset Parkinson Disease |
|
Dystonia, Dementia, Gait imbalance, Rigidity, Cognitive impairment, Frontal lobe dementia, Apathy... |
ORPHA:2828 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:619031 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... |
OMIM:612716 |
| Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Dystonia, Dysphagia, Babinski sign, Rigidity, Myoclonus, Shuffling gait, Bradykines... |
ORPHA:171695 |
| Spinocerebellar Ataxia Type 8 |
|
Dystonia, Dysphagia, Rigidity, Spastic dysarthria, Bradykinesia, Ataxia, Spasticity, Unsteady gai... |
ORPHA:98760 |
| Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... |
OMIM:618218 |
| Parkinson Disease 8, Autosomal Dominant |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607060 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... |
ORPHA:282166 |
| Parkinson Disease, Late-Onset |
|
Dystonia, Dysphagia, Rigidity, Bradykinesia, Tremor, Resting tremor, Short stepped shuffling gait... |
OMIM:168600 |
| Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Difficulty walking, Bradykinesia |
ORPHA:171442 |
| Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:98933 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618709 |
| Postencephalitic Parkinsonism |
|
Involuntary movements, Babinski sign, Dysphagia, Tremor by anatomical site, Rigidity, Bradykinesi... |
ORPHA:97349 |
| Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Babinski sign, Progressive psychomotor deterioration, Dementia, Dystonia, Frequent fa... |
ORPHA:309271 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Aggressive behavior, Speech apraxia, Stereotypy, Anxiety, Attention defi... |
OMIM:613670 |
| Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Ataxia, Hypera... |
ORPHA:228360 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dysphagia, Rigidity, Steppage gait, Bradykinesia, Parkinsonism, Limb ataxia, Gait ataxia |
OMIM:258450 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Diffuse c... |
OMIM:615362 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Myoclonus, Tremor |
OMIM:611092 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Dystonia, Paroxysmal dystonia, Babinski sign, Weakness due to upper motor neuron dysfunction, Sci... |
ORPHA:466722 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| 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 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
| Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Dysmetria, Bradykinesia, Impaired tandem gait, Intention tremor, Resting tremor,... |
OMIM:300623 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Torticollis, Abnormality of extrapyramidal motor functi... |
ORPHA:98808 |
| Perry Syndrome |
|
Dystonia, Inappropriate behavior, Rigidity, Suicidal ideation, Apathy, Bradykinesia, Tremor, Shor... |
OMIM:168605 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Happy demeanor, Poor coordination, Poor eye contact, Stereotypy, Ataxia, Inability to walk, Spast... |
OMIM:617695 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety |
ORPHA:101039 |
| Myoclonic Epilepsy Of Infancy |
|
Poor motor coordination, Poor hand-eye coordination, Aggressive behavior, Myoclonus, Irritability... |
ORPHA:86909 |
| Waisman Syndrome |
|
Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:311510 |
| Lichtenstein-Knorr Syndrome |
|
Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
| Progressive Supranuclear Palsy |
|
Dystonia, Dysphagia, Rigidity, Falls, Bradykinesia, Tremor, Unsteady gait, Blepharospasm |
ORPHA:683 |
| Manganese Poisoning |
|
Postural tremor, Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Bradyk... |
ORPHA:306682 |
| Chromosome 3Q29 Deletion Syndrome |
|
Aggressive behavior, Stereotypy, Hyperactivity, Anxiety, Gait ataxia |
OMIM:609425 |
| Rasmussen Subacute Encephalitis |
|
Hemidystonia, Generalized convulsive status epilepticus, Cognitive impairment, Focal impaired awa... |
ORPHA:1929 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Poor eye contact |
ORPHA:444002 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Spinocerebellar Ataxia Type 13 |
|
Clumsiness, Dysphagia, Torticollis, Myoclonus, Bradykinesia, Titubation, Gait ataxia, Limb ataxia... |
ORPHA:98768 |
| Microcephaly, Seizures, And Developmental Delay |
|
Seizure, Hyperactivity, Ataxia |
OMIM:613402 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Stereotypy |
OMIM:615541 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inabil... |
OMIM:618718 |
| Childhood Absence Epilepsy |
|
Limb myoclonus, Low self esteem, Punding, Abnormal social behavior, Anxiety, Attention deficit hy... |
ORPHA:64280 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Babinski sign, Progressive psychomotor deterioration, Dystonia, Frequent falls, Progr... |
ORPHA:309263 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Frequent falls |
OMIM:615945 |
| Childhood-Onset Nemaline Myopathy |
|
Clumsiness, Bradykinesia, Waddling gait, Neuromuscular dysphagia, Difficulty walking |
ORPHA:171439 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Tremor, Ataxia, Spasticity, Microcephaly |
OMIM:278780 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysphagia, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactiv... |
OMIM:610217 |
| Gerstmann-Straussler Disease |
|
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... |
OMIM:137440 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Dystonia, Bradykinesia |
OMIM:614924 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... |
OMIM:614306 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Shyness, Dystonia, Spastic dysarthria, Stereotypy, Waddling gait, Difficulty walki... |
ORPHA:280763 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Short stature, Tremor, Ataxia, Incoordination, Abnormal cerebral white matter morphology, Abnorma... |
OMIM:614947 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Adult-Onset Dystonia-Parkinsonism |
|
Clumsiness, Dystonia, Dysphagia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid a... |
ORPHA:199351 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Spastic diplegia, Stereotypy |
OMIM:617830 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia, Agenesis of corpus callosum |
OMIM:610245 |
| Gm2-Gangliosidosis, Ab Variant |
|
Paralysis, Dystonia, Dementia, Chorea, Apathy, Exaggerated startle response, Spastic tetraparesis... |
OMIM:272750 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dementia, Myoclonic spasms, Poor motor coordination, Motor deterioration, Cognitive i... |
ORPHA:79264 |
| Classic Phenylketonuria |
|
Paraplegia, Self-injurious behavior, Tremor, Hypertonia, Hemiplegia, Mental deterioration, Motor ... |
ORPHA:79254 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Paroxysmal dystonia, Suicidal ideation, Cognitive impairment, Stereotypy, ... |
ORPHA:98784 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity, Impulsivity, Depression |
ORPHA:88616 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination |
ORPHA:36387 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Choreoathetosis, Myoclonus, Tremor, Hypertonia, Cerebral calcification, Microcephaly |
OMIM:261630 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Short stature, Frequent falls, Torticollis, Dysmetria, Chorea, Fasciculati... |
ORPHA:397946 |
| Dravet Syndrome |
|
Rigidity, Myoclonus, Bradykinesia, Progressive gait ataxia, Cogwheel rigidity, Incoordination, Po... |
ORPHA:33069 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Stereotypy, Attention de... |
ORPHA:449291 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Aggressive behavior |
OMIM:618010 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Poor eye contact, Stereotypy |
OMIM:613886 |
| X-Linked Adrenoleukodystrophy |
|
Clumsiness, Paralysis, Dementia, Gait disturbance, Cognitive impairment, Aggressive behavior, Par... |
ORPHA:43 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Hypertonia, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Dysphagia, Rigidity, Frequent falls, Shuffling gait, Bradykinesia, Parkinsonism with fa... |
ORPHA:411602 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Short stature, Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia |
OMIM:213200 |
| Stiff Person Spectrum Disorder |
|
Rigidity, Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficul... |
ORPHA:3198 |
| Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity |
OMIM:609924 |
| Cdkl5-Deficiency Disorder |
|
Gait disturbance, Poor eye contact, Inappropriate laughter, Stereotypical hand wringing, Difficul... |
ORPHA:505652 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... |
OMIM:618598 |
| Choreoacanthocytosis |
|
Dystonia, Dementia, Progressive choreoathetosis, Self-mutilation of tongue and lips due to involu... |
OMIM:200150 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Gait disturbance, Dysphagia, Dystonia, Rigidity, Choreoathetosis, Eyelid apraxia, A... |
OMIM:234200 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... |
ORPHA:251282 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia |
OMIM:615768 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations, Degeneration of anterior horn cells |
ORPHA:65684 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Inability to walk, Stereotypical hand wrin... |
OMIM:618917 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Poor motor coordination, Cognitive impairment, Myoclonus, ... |
ORPHA:363400 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Cerebral palsy, Aggressive behavior, Self-mutilation, Lower limb spasticity, Poor e... |
ORPHA:163681 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Febrile seizure (within the age... |
OMIM:301008 |
| Autism, Susceptibility To, 3 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608049 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, No social interaction, Impaired social interactions |
ORPHA:329249 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Limb hypertonia, Chorea, Aggressive behavior, Abnormality of extrapyramidal motor funct... |
ORPHA:500180 |
| Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Subcortical cerebral atrophy, Tremor, Ataxia, Hypertonia, Spasticity, Cerebral cortical... |
ORPHA:33445 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Seizure, Hyperactivity |
ORPHA:85288 |
| Supranuclear Palsy, Progressive, 1 |
|
Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Bradykinesia, Retroco... |
OMIM:601104 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Self-injurious behavior, Chore... |
ORPHA:382 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia, Stereotypy |
OMIM:618906 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Abnormal cerebral white matter morphology |
OMIM:618951 |
| Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
| Rett Syndrome |
|
Dystonia, Gait disturbance, Limb apraxia, Bradykinesia, Stereotypy, Inability to walk, Stereotypi... |
ORPHA:778 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, Aggressive behavior, Myoclonus, Cortical myoclonus, Stereotypy, Ataxi... |
ORPHA:168491 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination |
OMIM:617182 |
| Tay-Sachs Disease |
|
Dementia, Apathy, Exaggerated startle response, Hypertonia, Psychomotor deterioration |
OMIM:272800 |
| Kufor-Rakeb Syndrome |
|
Parkinsonism, Gait disturbance, Dysphagia, Babinski sign, Lingual dystonia, Rigidity, Eyelid apra... |
ORPHA:306674 |
| Spinocerebellar Ataxia Type 37 |
|
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia |
ORPHA:363710 |
| Gabriele-De Vries Syndrome |
|
Tremor, Intrauterine growth retardation, Abnormal cerebral white matter morphology |
OMIM:617557 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Seizure, Hyperactivity |
OMIM:300928 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Microcephaly, Cerebral calcification |
OMIM:615010 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Supranuclear Palsy, Progressive, 2 |
|
Postural tremor, Dysphagia, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Falls, Brad... |
OMIM:609454 |
| Lamb-Shaffer Syndrome |
|
Stereotypy, Ataxia, Hyperactivity, Upper motor neuron dysfunction, Abnormal social behavior |
ORPHA:530983 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia, Short stature |
ORPHA:1368 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... |
OMIM:608643 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Self-injurious behavior, Chorea, Aggressive behavior, Myoclonus, Lower lim... |
ORPHA:485350 |
| Mental Retardation, Autosomal Recessive 41 |
|
Anxiety, Stereotypy |
OMIM:615637 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Upper motor neuro... |
ORPHA:216873 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apathy, Repetitive compulsive behavior, Hypersexuality, Apraxia, Disinhibition, Frontotemporal de... |
OMIM:607485 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia |
OMIM:600363 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Rigidity, Choreoathetosis, Short stature, Tremor, Ataxia, Spasticity, Microcephaly |
OMIM:612438 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Babinski sign, Dystonia, Frequent falls, Progressive gait ataxia, Decerebrate rigidit... |
ORPHA:309256 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Dysphagia, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medicatio... |
OMIM:157640 |
| Hyperlysinemia, Type I |
|
Seizure, Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Niemann-Pick Disease Type C |
|
Clumsiness, Cataplexy, Progressive neurologic deterioration, Progressive gait ataxia, Apathy, Abn... |
ORPHA:646 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Tongue fasciculations, Dysmetria, Tremor, Ataxia, Cerebral atrophy |
OMIM:618170 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Gait disturbance, Dysphagia, Rigidity, Dysmetria, Bradykinesia, Intention tremor, Ataxia, Parkins... |
ORPHA:93256 |
| Urocanase Deficiency |
|
Tremor, Ataxia, Short stature |
OMIM:276880 |
| 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 |
| Adenylosuccinase Deficiency |
|
Opisthotonus, Happy demeanor, Aggressive behavior, Myoclonus, Self-mutilation, Poor eye contact, ... |
OMIM:103050 |
| 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 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Tremor, Truncal ataxia, Abnormal cerebral white matter morphology, Gait ataxia |
OMIM:618587 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
ORPHA:98763 |
| Myoclonic-Astatic Epilepsy |
|
Lack of peer relationships, Ataxia, Tremor, Attention deficit hyperactivity disorder, Hyperactivi... |
ORPHA:1942 |
| Mannosidosis, Beta A, Lysosomal |
|
Seizure, Hyperactivity |
OMIM:248510 |
| Tonne-Kalscheuer Syndrome |
|
Shyness, Self-injurious behavior, Aggressive behavior, Tremor, Broad-based gait, Spasticity, Anxiety |
OMIM:300978 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait, Recurrent hand flapping |
OMIM:615516 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Spasticity, Anxiety, Depression |
OMIM:619467 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Leukoencephalopathy, Tremor, Ataxia, Gait ataxia |
OMIM:618387 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Paraparesis, Abnormal lower motor neuro... |
OMIM:105550 |
| Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Poor coordination, Tremor, Ataxia, Recurrent hand flapping, Impaired social int... |
ORPHA:544254 |
| 4H Leukodystrophy |
|
Short stature, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, ... |
ORPHA:289494 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Self-mutilation, Stereotypy, Tremor, Hyperkinetic moveme... |
ORPHA:457240 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Degeneration of anterio... |
OMIM:159950 |
| Behr Syndrome |
|
Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Hyperkinetic movements, Anxiety |
OMIM:271980 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Short stature, Dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia, Hypoplasia of the corpus ca... |
OMIM:610185 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Babinski sign, Growth delay, Pseudobulbar paralysis, Short stature, Tremor, Tetraplegia, Spastici... |
OMIM:616586 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Truncal ataxia, Tremor |
OMIM:616127 |
| Dystonia 26, Myoclonic |
|
Torticollis, Myoclonus, Laryngeal dystonia, Depression, Anxiety, Blepharospasm |
OMIM:616398 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Gand Syndrome |
|
Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Short stature, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity... |
ORPHA:1170 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Hypoplasia of the corpus callosum |
OMIM:616668 |
| Infantile Neuroaxonal Dystrophy |
|
Progressive spasticity, Gait disturbance, Dystonia, Spastic tetraparesis, Ataxia, Hyperactivity, ... |
ORPHA:35069 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Tetraplegia, Hyperactivity, Hypertonia, Lethargy |
OMIM:274270 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Poor fine motor coord... |
ORPHA:79263 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Cerebral atrophy |
OMIM:612126 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617044 |
| Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Ataxia, Tremor |
OMIM:617917 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Cerebral atrophy |
OMIM:618637 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Paraplegia, Cognitive impairment, Stereotypy, Ataxia, Emotional lability, Anxiety, Lethargy |
ORPHA:927 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Seizure, Hyperactivity |
OMIM:300434 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Happy demeanor, Hyperactivity, Tics, Hypertonia, Broad-based gait, Unsteady gait |
OMIM:617865 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign |
OMIM:612016 |
| Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Babinski sign, Aggressive behavior, Spasticity |
OMIM:617773 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Tremor, Progressive cerebellar ataxia, Focal T2 hypointense basal ganglia lesion, Abno... |
ORPHA:139485 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hypertonia, Spasticity... |
ORPHA:352490 |
| Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Happy demeanor, Inappropriate laughter, Stereotypy, Ataxia, Hyperactivity, Ster... |
OMIM:614104 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Limb hypertonia, Rigidity, Myoclonus, Tremor, Abnormality of coordination,... |
ORPHA:442835 |
| Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... |
OMIM:619317 |
| Xq28 (MECP2) duplication |
|
Progressive spasticity, Stereotypy, Inability to walk, Anxiety, Gait ataxia, Depression |
DECIPHER:45 |
| Tay-Sachs Disease |
|
Clumsiness, Progressive spasticity, Gait disturbance, Dystonia, Frequent falls, Dysmetria, Myoclo... |
ORPHA:845 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Huntington Disease-Like 3 |
|
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Extrapyramidal dyskinesia, Extrap... |
ORPHA:157946 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Abnormal lower m... |
ORPHA:2590 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Ataxia |
OMIM:619028 |
| Distal Xq28 Microduplication Syndrome |
|
Self-biting, Aggressive behavior, Poor eye contact, Stereotypical body rocking, Tip-toe gait, Imp... |
ORPHA:293939 |
| Stiff-Person Syndrome |
|
Myoclonic spasms, Opisthotonus, Rigidity, Frequent falls, Agoraphobia, Exaggerated startle respon... |
OMIM:184850 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia |
OMIM:619092 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Short stature, Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia |
OMIM:614831 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... |
OMIM:615925 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:300454 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
| Multiple System Atrophy 1, Susceptibility To |
|
Babinski sign, Rigidity, Bradykinesia, Tremor, Ataxia, Parkinsonism |
OMIM:146500 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Hypertonia, Dysdiadochokinesis, Poor fine mot... |
ORPHA:309854 |
| Rett Syndrome, Congenital Variant |
|
Athetosis, Dystonia, Inappropriate crying, Chorea, Tongue thrusting, Poor eye contact, Stereotypy... |
OMIM:613454 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Growth delay, Tremor, Hypertonia, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the cor... |
OMIM:617248 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait disturbance, Dysphagia, Rigidity, Frequent falls, Abnormality of extrapyramidal motor functi... |
ORPHA:254892 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:616719 |
| Christianson Syndrome |
|
Dystonia, Conspicuously happy disposition, Inappropriate laughter, Stereotypy, Truncal ataxia, Ga... |
ORPHA:85278 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Fatiguable weakness of proximal limb muscles, Limb fasciculations |
ORPHA:90117 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
| Developmental And Epileptic Encephalopathy 30 |
|
Stereotypy |
OMIM:616341 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Myoclonus |
OMIM:608105 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Dysmetria, Aggressive behavior, Intention tremor, Ataxia, Nonprogressive cerebellar ataxia, Abnor... |
ORPHA:314647 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... |
ORPHA:139396 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Gait disturbance, Dystonia, Poor hand-eye coordination, Aggressive behavior, Stereotypy, Attentio... |
OMIM:300352 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Shyness |
OMIM:300801 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Growth delay, Choreoathetosis, Posterior atrophy of corpus callosum, Tremor, Ataxia, Cerebral atr... |
OMIM:619422 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait, Spasticity |
ORPHA:457260 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Progressive spasticity, Rigidity, Chorea, Poor eye contact, Lower limb spasticity, Stereotypy, Re... |
OMIM:300260 |
| Bilateral Generalized Polymicrogyria |
|
Dystonia, Self-injurious behavior, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid... |
ORPHA:208447 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Myoclonus, Poor eye contact, Stereotypy |
ORPHA:411986 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Aggressive behavior, Stereotypy, Anxiety, Attention deficit hyperactivit... |
ORPHA:313892 |
| Cri-Du-Chat Syndrome |
|
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Stereotypy, Hyperactivity,... |
OMIM:123450 |
| Pelizaeus-Merzbacher Disease |
|
Head titubation, Short stature, Choreoathetosis, Tremor, Ataxia, Progressive spastic quadriplegia... |
OMIM:312080 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal pyramidal sign, Limb ataxia, ... |
OMIM:617145 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
| Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Cognitive impairment, Hyperactivity, Ataxia, Hypertonia, Depression, Bip... |
OMIM:601853 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Happy demeanor, Myoclonus, Tongue thrusting, Inappropriate laughter, Tremor, Atax... |
ORPHA:98794 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Self-biting, Aggressive behavior, Poor eye contact, Lower limb spasticity, Stereotypy, Stereotypi... |
OMIM:300912 |
| Limbic Encephalitis With Nmda Receptor Antibodies |
|
Involuntary movements, Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Anxiety, Chorea, Myoclo... |
ORPHA:217253 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
| Pyruvate Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Growth delay, Choreoathetosis, Cerebral palsy, Tremor, Ataxia, A... |
ORPHA:765 |
| Myopathy With Extrapyramidal Signs |
|
Clumsiness, Clonus, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the internal capsul... |
OMIM:615673 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Gait disturbance, Self-injurious behavior, Aggressive behavior, Conspicuously happy disposition, ... |
OMIM:300986 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618504 |
| Optic Atrophy 11 |
|
Dysmetria, Ataxia, Hyperactivity, Hyperkinetic movements |
OMIM:617302 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Ataxia, Short stature, Microcephaly |
OMIM:278760 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Tremor, Spastic paraplegia, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:477673 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:300558 |
| Developmental And Epileptic Encephalopathy 68 |
|
Clonus, Myoclonus, Exaggerated startle response, Spasticity |
OMIM:618201 |
| 2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Hyperactivity, Ataxia |
ORPHA:228402 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Babinski sign, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Tremor, Incoordination, Abnor... |
OMIM:302800 |
| Choreoacanthocytosis |
|
Oromandibular dystonia, Phonic tics, Lingual dystonia, Loss of ambulation, Bradykinesia, Hyperton... |
ORPHA:2388 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Short stature, Tremor, Hyperkinetic movements, Spasticity, Abn... |
OMIM:300957 |
| Snijders Blok-Campeau Syndrome |
|
Unsteady gait, Broad-based gait, Speech apraxia, Stereotypy |
OMIM:618205 |
| Autosomal Dominant Cerebellar Ataxia |
|
Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyramidal sign, Choreoa... |
ORPHA:99 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Broad-based gait, Stereotypy |
OMIM:301029 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Short stature, Gait ataxia, Simplified gyral pattern, Tremor, Polymicrogyria, Abnormal cerebral w... |
OMIM:300354 |
| Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles |
ORPHA:166108 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Spastic ataxia, Tremor, Progressive cerebellar... |
ORPHA:137898 |
| Neuronal Intranuclear Inclusion Disease |
|
Tremor, Ataxia, Leukoencephalopathy, Rigidity |
OMIM:603472 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Coffin-Siris Syndrome 6 |
|
Tics, Attention deficit hyperactivity disorder, Anxiety, Stereotypy |
OMIM:617808 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior, Spasticity |
OMIM:615286 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oculogyric c... |
ORPHA:178469 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity |
OMIM:260540 |
| 48,Xxyy Syndrome |
|
Stereotypy, Tremor, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression |
ORPHA:10 |
| Angelman Syndrome |
|
Happy demeanor, Self-injurious behavior, Aggressive behavior, Myoclonus, Tongue thrusting, Poor e... |
ORPHA:72 |
| Jaberi-Elahi Syndrome |
|
Choreoathetosis, Dysmetria, Tremor, Spasticity, Gait ataxia, Agenesis of corpus callosum, Microce... |
OMIM:617988 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Hyperactivity, Aggressive behavior, Irritability, Stereotypy |
ORPHA:391307 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Poor eye contact, Stereotypy, Ataxia, Head tremor, No social interaction |
OMIM:619428 |
| Clark-Baraitser Syndrome |
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Seizure, Hyperactivity |
OMIM:617752 |
| Ck Syndrome |
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Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
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Dysmetria, Tremor, Ataxia, Cerebral atrophy, Titubation |
OMIM:619405 |
| Fragile X Syndrome |
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Hyperactivity, Poor eye contact |
OMIM:300624 |
| Dentatorubral Pallidoluysian Atrophy |
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Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Myoclonus, Blepharospasm, Progres... |
ORPHA:101 |
| Spinocerebellar Ataxia 42 |
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Babinski sign, Spastic gait, Spastic ataxia, Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:616795 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Tremor, Hypertonia, Short stature, Cerebral cortical atrophy |
ORPHA:1192 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
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Dysmetria, Tremor, Spasticity, Apraxia, Gait ataxia |
OMIM:617810 |
| Developmental And Epileptic Encephalopathy 8 |
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Hypertonia, Exaggerated startle response |
OMIM:300607 |
| X-Linked Creatine Transporter Deficiency |
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Athetosis, Dystonia, Chorea, Self-mutilation, Ataxia, Hypertonia, Hyperactivity |
ORPHA:52503 |
| Mental Retardation, Autosomal Recessive 13 |
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Seizure, Hyperactivity |
OMIM:613192 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
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Tetraplegia, Abnormal pyramidal sign, Aggressive behavior, Hyperactivity |
ORPHA:369939 |
| Saccharopinuria |
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Tremor, Spastic diplegia, Gait ataxia, Short stature |
ORPHA:3124 |
| Radio-Tartaglia Syndrome |
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Gait imbalance, Aggressive behavior, Poor eye contact, Stereotypy, Tremor, Ataxia, Impulsivity, A... |
OMIM:619312 |
| Hyperekplexia 3 |
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Hypertonia, Exaggerated startle response |
OMIM:614618 |
| Combined Oxidative Phosphorylation Deficiency 18 |
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Dysmetria, Intrauterine growth retardation, Tremor |
OMIM:615578 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
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Tremor, Oculomotor apraxia, Eyelid myoclonus, Ataxia, Incoordination, Abnormal pyramidal sign, Hy... |
OMIM:618060 |
| Hyperekplexia 2 |
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Hypertonia, Myoclonus, Exaggerated startle response |
OMIM:614619 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
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Babinski sign, Dysmetria, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia, Basal ganglia ... |
OMIM:616505 |
| Potocki-Lupski Syndrome |
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Hyperactivity, Poor eye contact, Stereotypy |
OMIM:610883 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
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Tremor, Leukoencephalopathy, Short stature |
ORPHA:457365 |
| Inverted Duplicated Chromosome 15 Syndrome |
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Hyperactivity, Aggressive behavior, Self-biting, Stereotypy |
ORPHA:3306 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
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Hyperactivity, Aggressive behavior, Broad-based gait, Spasticity |
OMIM:300958 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
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Babinski sign, Scissor gait, Dysmetria, Spastic gait, Aggressive behavior, Spastic tetraplegia, S... |
OMIM:619121 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
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Rigidity, Tremor, Hypertonia, Cerebral amyloid angiopathy, Spasticity |
OMIM:176500 |
| 48,Xxxy Syndrome |
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Tremor, Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavio... |
ORPHA:96263 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
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Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements |
OMIM:233910 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Seizure, Hyperactivity, Infantile spasms, Tonic seizure |
OMIM:619239 |
| Proximal 16P11.2 Microdeletion Syndrome |
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Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Attention deficit h... |
ORPHA:261197 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Ataxia, Paraparesis |
ORPHA:99014 |
| Spinocerebellar Ataxia Type 21 |
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Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ga... |
ORPHA:98773 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Self-mutilation, Stereotypy, Hyperactivity, Low frustration tolerance, Spasticity, Gait ataxia |
OMIM:300486 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
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Overfriendliness, Attention deficit hyperactivity disorder, Low frustration tolerance, Stereotypy |
OMIM:619293 |
| Primary Dystonia, Dyt2 Type |
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Involuntary movements, Blepharospasm, Torticollis, Tremor |
ORPHA:99657 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
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Tremor |
ORPHA:66633 |
| Smith-Magenis Syndrome |
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Hyperactivity, Self-mutilation, Head-banging, Stereotypy |
OMIM:182290 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:208920 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Aggressive behavior, Ataxia, Hyperactivity, Incoordination, Overfriendliness, Spastic paraparesis |
ORPHA:369891 |
| Angelman Syndrome Due To A Point Mutation |
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Gait imbalance, Happy demeanor, Tongue thrusting, Inappropriate laughter, Ataxia, Broad-based gai... |
ORPHA:411511 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Dystonia, Delayed social development, Torticollis, Spastic ataxia, Stereotypy, Spastic tetraplegi... |
ORPHA:300570 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
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Babinski sign, Leukoencephalopathy, Tremor, Cerebral atrophy, Spastic paraplegia, Hypoplasia of t... |
ORPHA:83629 |
| Spastic Paraplegia 29, Autosomal Dominant |
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Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Hyperactivity, Spastic parap... |
OMIM:609727 |
| 4Q21 Microdeletion Syndrome |
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Tremor, Self-injurious behavior, Stereotypy |
ORPHA:238750 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Spinocerebellar Ataxia 8 |
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Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal sign |
OMIM:608768 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Dystonia, Choreoathetosis, Self-biting, Chorea, Self-mutilation, Poor eye contact, Stereotypy, Re... |
ORPHA:522077 |
| Sandhoff Disease |
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Progressive psychomotor deterioration, Exaggerated startle response, Fasciculations, Ataxia, Spas... |
OMIM:268800 |
| Luscan-Lumish Syndrome |
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Aggressive behavior, Anxiety, Shyness, Slurred speech |
OMIM:616831 |
| Spontaneous Periodic Hypothermia |
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