Gene Summary

Name:
ATP-binding cassette, sub-family A (ABC1), member 2
Synonyms:
Abc2,  D2H0S1474E

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased exploration in new environment Abca2em1(IMPC)J HOM   Early adult 1.23×10-05
hyperactivity Abca2em1(IMPC)J HOM   Early adult 1.90×10-12

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Abca2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Abca2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Gait ataxia, Incoordination, Aggressive behavior OMIM:618808

The table below shows human diseases predicted to be associated to Abca2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Emotional lability, Anxiety, Cognitive impairment, Atten... ORPHA:280397
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Intellectual Developmental Disorder, X-Linked 109
Aggressive behavior, Hyperactivity OMIM:309548
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Depression, Chorea, Ataxia, Parkinsonism, Myoclonus, Anxiety, Upper motor neuro... ORPHA:401901
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics OMIM:300830
Huntington Disease-Like 2
Dystonia, Depression, Chorea, Apathy, Weight loss, Action tremor, Bradykinesia, Irritability, Anx... OMIM:606438
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Broad-based gait OMIM:617665
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Immunodeficiency 8
Hyperactivity OMIM:615401
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Inertia, Depression, Violent behavior, Chorea, Gait disturbance, Abnormal pyr... ORPHA:216873
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity ORPHA:217012
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity OMIM:617018
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Dystonia 11, Myoclonic
Tremor, Depression, Agoraphobia, Writer's cramp, Torticollis, Myoclonus, Anxiety OMIM:159900
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Aggressive behavior, Spasticity ORPHA:356996
Spinocerebellar Ataxia Type 38
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Depression, Ataxia, Emotional lability, Myo... OMIM:615362
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Depression, Ataxia, Spasticity OMIM:615889
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Anxiety OMIM:141500
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Depression, Ataxia, Spasticity OMIM:614307
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Depression, Head tremor, Action tremor, Progressive cerebella... OMIM:604326
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Depression, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Bab... OMIM:618093
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torti... ORPHA:36899
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Chorea, Benign Hereditary
Chorea, Gait disturbance, Anxiety OMIM:118700
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Resting tremor, Bradykinesia, Craniofacial dystonia, Emotional lability,... ORPHA:71517
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Autosomal Spastic Paraplegia Type 72
Impaired vibration sensation at ankles, Postural tremor, Spastic gait, Rigidity ORPHA:401849
Pandas
Claustrophobia, Clumsiness, Depression, Tics, Chorea, Agoraphobia, Emotional lability, Separation... ORPHA:66624
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Dystonia, Pa... OMIM:128230
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Myoclonus, Dysmetria, Anxiety, Attention deficit hyperact... OMIM:619191
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Chorea, Ataxia, Weight loss, Bradykinesia, Progressive cerebel... ORPHA:248111
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Depression, Head tremor, Limb ataxia, Parkinsonism, Babins... ORPHA:101109
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Depression, Resting tremor, Bradykinesia, Parkinsonism, Anxiety, Rigidity OMIM:605909
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis... OMIM:612716
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinso... OMIM:261640
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Irritability, Myoclonus, Choreoathetosis OMIM:261630
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Tremor, Bipolar affective disorder, Aggressiv... ORPHA:3077
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, Irritability, Choreoathetosis OMIM:612126
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Bab... OMIM:610245
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Huntington Disease-Like 1
Incoordination, Aggressive behavior, Depression, Chorea, Unsteady gait, Anxiety, Dysmetria, Rigidity OMIM:603218
Cyanide-Induced Parkinsonism-Dystonia
Apathy, Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity... ORPHA:306692
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Aggressive behavior, Akinesia, Depression, Difficulty walkin... ORPHA:98764
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Aggres... OMIM:617225
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Dystonia, Aggressive behavior, Depression, Bradykinesia, Parkinsonis... OMIM:612953
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity, Spasticity OMIM:300983
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Small for gestational age, Anxiety, Stereotypy, Failure to thri... OMIM:609425
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Urocanase Deficiency
Tremor, Aggressive behavior, Ataxia OMIM:276880
Creutzfeldt-Jakob Disease
Gait ataxia, Extrapyramidal muscular rigidity, Depression, Apathy, Hemiparesis, Irritability, Myo... OMIM:123400
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Impulsivity, Myoclonus, Dysmetria OMIM:619028
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... ORPHA:98763
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, F... OMIM:605361
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Dysmetria,... OMIM:616948
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Depression, Chorea, Gait disturbance, Abnor... OMIM:213600
Hyperprolinemia, Type I
Stereotypy, Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Glutathionuria
Tremor OMIM:231950
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Dystonia, Aggressive be... OMIM:615157
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
Spastic Paraparesis And Deafness
Hypogonadism, Tremor, Spastic paraparesis OMIM:312910
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Impulsivity, Recurrent hand flapping, Hyperactivity, Stereotypic... ORPHA:100973
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Brad... OMIM:619279
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Disinhibition, Rigidity, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's ... OMIM:606159
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Apathy, Bradykinesia, Parkinsonism, Falls, Abnormal neuron morphology, Short stepped shu... ORPHA:412066
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Progressive gait ataxia, Difficulty walking, Progressive cerebellar ataxia, Dysmetria... ORPHA:284332
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Aggressive behavior, Hypertonia, Spastic tetraparesis, Hemiparesis, Impulsivity, Hyperactivity OMIM:604317
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
Brunner Syndrome
Kinetic tremor, Aggressive behavior, Self-injurious behavior, Low frustration tolerance, Impulsivity OMIM:300615
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Chorea, Resting tremor, Limb hypertonia, Anxiety OMIM:606703
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... ORPHA:276435
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Depression, Ap... ORPHA:240085
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Aggressive behavior, Depression, Limb ataxia, Weigh... OMIM:137440
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Myoclonus, Hyperactivity OMIM:605899
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Gait ataxia, Apraxia, Dystonia, Inappropriate lau... ORPHA:3095
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Spinocerebellar Ataxia 42
Tremor, Depression, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal si... OMIM:616795
Perry Syndrome
Tremor, Dystonia, Disinhibition, Akinesia, Depression, Apathy, Weight loss, Bradykinesia, Parkins... OMIM:168605
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis, Anxiety OMIM:602066
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Lower limb s... ORPHA:100988
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Basal Ganglia Calcification, Idiopathic, 5
Depression, Chorea, Apathy, Parkinsonism, Anxiety, Athetosis, Motor tics OMIM:615483
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:352641
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Exaggerated startle ... ORPHA:309246
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Lethargy, Abnormality of extrapyramidal motor function, Ataxia, Bra... ORPHA:101150
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Dystonia, Lethargy, Rigidity, Hyperkinetic movements, Limb hypertonia, Irritability, Chor... OMIM:233910
Dopa-Responsive Dystonia
Dystonia, Abnormality of extrapyramidal motor function, Agoraphobia, Emotional lability, Panic at... ORPHA:255
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... ORPHA:284324
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Unsteady gait, Torticollis, Parkinsonism,... OMIM:128235
Huntington Disease
Decreased body mass index, Dystonia, Clumsiness, Poor fine motor coordination, Weight loss, Rigid... ORPHA:399
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity OMIM:616719
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Ankle clonus, Exaggerated star... OMIM:618598
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Aggressive behavior, Depression, Chorea, L... OMIM:607136
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Aggressive behavior, Abnormality of extrapyramidal motor f... OMIM:300894
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Obesity OMIM:614947
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... OMIM:609270
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Abnormality of extrapyramidal moto... ORPHA:500180
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Sotos Syndrome 3
Hyperactivity OMIM:617169
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Aggressive behavior, Parkinsonism with favorable response t... OMIM:606693
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Depression, Head trem... OMIM:609307
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Lethargy, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Depression, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Progressive extrapyramidal movement disorder, Abnormality of extra... ORPHA:382
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Incoordination, Dystonia, Depression, Oculogyric crisis, Parkinsonism, Shuff... OMIM:618049
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Disinhibition, Depression, Poor fine motor coor... OMIM:300623
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Action tremor, Bradykinesia, Parkinsonism, Babinski sign OMIM:300423
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Akinetic mutism, Depression, Chorea, Spastic hemiparesis, Slurre... ORPHA:282166
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... ORPHA:101077
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Tip-toe ... ORPHA:397946
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia 21
Postural tremor, Cogwheel rigidity, Gait ataxia, Dystonia, Aggressive behavior, Akinesia, Abnorma... OMIM:607454
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia, Emotional lability, Irritability, Failure to thrive OMIM:201100
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... ORPHA:206443
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Manganese Poisoning
Postural tremor, Cogwheel rigidity, Dystonia, Inappropriate laughter, Aggressive behavior, Akines... ORPHA:306682
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Depression, Chorea, Impulsivity, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Dysmetria, Cognitive impairment, Attention deficit hyperactivity diso... OMIM:614306
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Inappropriate crying, Abnormality of coordination, Hyperton... ORPHA:352649
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Speech apraxia, Depression, Slurred speech, Emotional lability,... ORPHA:98818
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:99014
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, Stereotypy, Hy... OMIM:618718
Perry Syndrome
Tremor, Depression, Abnormality of extrapyramidal motor function, Apathy, Weight loss, Parkinsonism ORPHA:178509
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Distal sensory impairment, Steppage gait, Spasticity OMIM:609260
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Somatic sensory dysfunction, Distal sensory impairment, Limb fascicula... ORPHA:90117
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Axial dystonia, Depression, Apathy, Abnormal pyramidal sign, Restin... ORPHA:98933
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Obesity, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Aggressive behavior, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Trisomy X
Tremor, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:3375
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Stereotypy, Hyperactivity OMIM:615541
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Depression, Gait disturbance, Abn... OMIM:614298
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Failure to thrive, Hyperactivity, Tetraplegia OMIM:274270
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Multiple System Atrophy, Cerebellar Type
Postural tremor, Gait ataxia, Axial dystonia, Depression, Limb ataxia, Apathy, Abnormal pyramidal... ORPHA:227510
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Slurred speech, Gait disturbance, A... ORPHA:93952
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Failure to thrive, Hyperactivity OMIM:618362
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Upper limb postural tremor, Distal sensory impairment, Action tremor OMIM:180800
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Hyperkinetic movements, Ataxia, Anxiety, Hyperactivity OMIM:271980
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety... ORPHA:3198
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus... OMIM:159950
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Degeneration of anterior horn cells, Distal sensory impairment, Tetraplegia, Fa... OMIM:604484
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Action tremor, Weakness due to upper motor neuron dys... ORPHA:97355
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells ORPHA:65684
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Myoclo... ORPHA:79263
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Abnormal lower motor... ORPHA:2590
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Aggressive behavior, Depression, Apathy, Progres... ORPHA:98761
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Dysmetria, Spasticity OMIM:617810
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Gait ataxia, Truncal ataxia, Rigidity, Dystonia, Hypertonia, Hemiballi... OMIM:618877
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Babinski sign, Failure to thrive, Broad-based gait ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Myoclonus, Hyperactivity ORPHA:2382
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity ORPHA:85288
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Choreoathetosis ORPHA:391417
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Limb hypertonia, Unsteady gait, ... ORPHA:442835
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Upper limb spasticity, Chorea, Self-... ORPHA:485350
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Toe walki... OMIM:302800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Apathy, Paralysis, E... OMIM:272750
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Unsteady gait,... OMIM:617435
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Exaggerated startle response, Torticoll... OMIM:608643
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Myoclonus, Limb d... ORPHA:420485
Mental Retardation, Autosomal Dominant 7
Incoordination, Inappropriate laughter, Gait disturbance, Ataxia, Failure to thrive in infancy, S... OMIM:614104
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor OMIM:254900
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Cogwheel rigidity, Gait ataxia, Dystonia, Lethargy, Chorea, Hypertonia, Abnorm... OMIM:607483
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Gabriele-De Vries Syndrome
Tremor, Waddling gait, Dystonia OMIM:617557
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Somatic sensory dysfunction, Rigidity OMIM:603472
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Happy demeanor, Failure to thrive, Hyperactivity, Broad-based gait OMIM:617865
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty walking, H... ORPHA:137898
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Small for gestational age, Ri... ORPHA:70594
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Postencephalitic Parkinsonism
Cogwheel rigidity, Paresthesia, Akinesia, Depression, Abnormal pyramidal sign, Resting tremor, Br... ORPHA:97349
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Bradykinesia, Emoti... OMIM:610217
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Aggressive behavior, Disinhibition, Paraparesis, Gait disturbance, He... ORPHA:43
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Gait disturbance, Atax... ORPHA:96
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Attention d... OMIM:617384
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Blepharospasm, Writer's cramp, Oromandibular dystonia, Torticollis,... OMIM:602124
Generalized Epilepsy With Febrile Seizures-Plus
Tremor, Incoordination, Poor fine motor coordination, Ataxia, Bradykinesia, Anxiety ORPHA:36387
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Depression, Hypertonia, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Dystonia, Axial dystonia, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240071
Choreoacanthocytosis
Dystonia, Disinhibition, Aggressive behavior, Tics, Self-mutilation of tongue and lips due to inv... OMIM:200150
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Tremor, Ataxia OMIM:278760
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Dystonia, Limb ataxia, Oculomotor apraxia, Ataxia, Distal se... OMIM:208920
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Failure to thrive, Dysmetria, Choreoathetosis, ... OMIM:617988
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Chorea, Hypertonia, Ataxia, Cachexia, Hyperactivity, Athetosis ORPHA:52503
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Unsteady gait, Dysmetria OMIM:614867
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Vestibular areflexia, Gait ataxia, Progressive cerebellar ataxia, Dysmetria, ... ORPHA:504476
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Myoclonus, Anxiety OMIM:616398
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Attention deficit hyperactivity disorder, Anxiety, Stereotypy OMIM:618906
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:254886
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Intellectual Developmental Disorder, X-Linked 12
Tremor, Depression, Gait disturbance, Hyperkinetic movements, Truncal obesity, Small for gestatio... OMIM:300957
Neuroferritinopathy
Dystonia, Palatal myoclonus, Chorea, Difficulty walking, Blepharospasm, Resting tremor, Bradykine... ORPHA:157846
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Depression, Ataxia, B... ORPHA:98808
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoc... ORPHA:363400
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Abnormality of extrapyramidal motor function, Head tremor, Difficulty walking, Abnormal... ORPHA:280219
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torsion dystonia, Torticollis OMIM:224500
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Gait ataxia, Incoordination, Aggressive behavior OMIM:618808
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Tremor, Overweight, Depression, Upper limb spasticity, Gait disturbance, Hyperki... ORPHA:457240
Developmental And Epileptic Encephalopathy 42
Athetosis, Hypertonia, Tremor, Ataxia OMIM:617106
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Riboflavin Transporter Deficiency
Tremor, Aggressive behavior, Ataxia, Myoclonus, Cachexia ORPHA:97229
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Oculomotor apraxia, Borderline... OMIM:618060
Multiple System Atrophy
Postural tremor, Gait ataxia, Axial dystonia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Upper limb spasticity, Lower limb spasticity, B... OMIM:609727
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Gand Syndrome
Tics, Inappropriate laughter, Hyperactivity OMIM:615074
Classic Phenylketonuria
Hemiplegia, Tremor, Depression, Hypertonia, Self-injurious behavior, Paraplegia, Attention defici... ORPHA:79254
Proximal 16P11.2 Microduplication Syndrome
Tremor, Bipolar affective disorder, Decreased body mass index, Anxiety, Failure to thrive, Attent... ORPHA:370079
Optic Atrophy 11
Dysmetria, Hyperkinetic movements, Ataxia, Hyperactivity OMIM:617302
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Decreased body weight, Hyperactivity OMIM:618342
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Inappropriate crying, Chorea, Gait disturbance, Resting tremor... ORPHA:225147
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Myoclonus, Failure to thrive, Clonus, Spasticity OMIM:618201
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Ataxia, Happy demeanor, Tongue thrusting, Recurrent hand flapping... ORPHA:98794
Dystonia 24
Head tremor, Torticollis, Blepharospasm, Oromandibular dystonia OMIM:615034
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Difficulty walking, Exaggerated startle response, I... ORPHA:320406
Classic Galactosemia
Postural tremor, Dystonia, Incoordination, Clumsiness, Lethargy, Speech apraxia, Depression, Gait... ORPHA:79239
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, Babinski sign, Spasticity OMIM:617773
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Titubation, Dysmetria ORPHA:98771
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Failure to thrive, Spasticity OMIM:615286
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, Choreoathetosis, C... ORPHA:765
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Myoclonus, Ataxia OMIM:607876
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormality of pain sensation, Recurrent han... ORPHA:544254
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis ORPHA:330050
Adenylosuccinase Deficiency
Inability to walk, Self-mutilation, Gait ataxia, Inappropriate laughter, Aggressive behavior, Opi... OMIM:103050
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Small for gestational age, Stereotypy, Hyperactivity, Repetitive compulsive behavior,... ORPHA:352490
Progressive Supranuclear Palsy
Tremor, Dystonia, Depression, Blepharospasm, Bradykinesia, Unsteady gait, Impulsivity, Falls, Rig... ORPHA:683
Hereditary Late-Onset Parkinson Disease
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Akinesia, Depression, ... ORPHA:411602
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Stereotypy, Hyperactivity, Spasticity OMIM:610042
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Abnormal pyramidal sign, Failure to thrive, Hyperactivity, Tetraplegia ORPHA:369939
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Resting tremor, Atax... ORPHA:247234
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Intention tremor, Hypertonia, Ataxia, Myoclonus, Dysmetria, Distal sensory i... OMIM:616505
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Dysmetria, Spasticity ORPHA:529665
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Stereotypy, Hyperactivity, Failure to thrive, Spasticity OMIM:300912
Parkinson Disease, Late-Onset
Tremor, Dystonia, Depression, Resting tremor, Bradykinesia, Parkinsonism, Short stepped shuffling... OMIM:168600
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Depression, Difficulty walking, Li... OMIM:617675
Ck Syndrome
Slender build, Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Spinocerebellar Ataxia Type 42
Gait ataxia, Depression, Impaired vibration sensation at ankles, Head tremor, Resting tremor, Spa... ORPHA:458803
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine mo... OMIM:613280
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Tetraplegia,... OMIM:616586
Young-Onset Parkinson Disease
Dystonia, Tremor, Depression, Apathy, Bradykinesia, Panic attack, Impulsivity, Anxiety, Rigidity,... ORPHA:2828
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Tremor, Gait ataxia, Aggressive behavior, Hyperactivity, Mood swings OMIM:300354
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperac... ORPHA:1942
Aceruloplasminemia
Tremor, Gait ataxia, Dystonia, Akinesia, Limb ataxia, Chorea, Apathy, Blepharospasm, Ataxia, Cran... ORPHA:48818
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Attention deficit hyperactivity disorder, Abnormal ... ORPHA:52368
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Head tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Soma... ORPHA:64753
Ck Syndrome
Slender build, Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Increased body weight ORPHA:276608
Tay-Sachs Disease
Inability to walk, Tremor, Incoordination, Clumsiness, Dystonia, Depression, Gait disturbance, Po... ORPHA:845
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Spasticity ORPHA:457260
Ataxia-Telangiectasia
Tremor, Gait disturbance, Ataxia, Failure to thrive, Spasticity ORPHA:100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Spasticity, Decreased body weight, Hyperactivity, Broad-based gait OMIM:300958
Gillespie Syndrome
Postural tremor, Slurred speech, Ataxia OMIM:206700
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Eyelid apraxia, Dystonia, Rigidity, Motor tics, Abnormality of extrapyramidal motor funct... OMIM:234200
Parkinson Disease 1, Autosomal Dominant
Dystonia, Depression, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Ri... OMIM:168601
Graves Disease, Susceptibility To, 1
Irritability, Weight loss, Hyperactivity OMIM:275000
Stiff-Person Syndrome
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety, Frequent falls, Myo... OMIM:184850
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Dystonia, Progressive gait ataxia, Chorea, Limb ataxia, Head tremor, Abnorma... OMIM:606002
Cataract, Ataxia, Short Stature, And Mental Retardation
Postural tremor, Ataxia OMIM:300619
Insulinoma
Tremor, Lethargy, Paresthesia, Abnormality of pain sensation, Increased body weight, Anxiety ORPHA:97279
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Emotional labi... ORPHA:35069
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustra... ORPHA:168491
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Testicular atrophy, Tremor, Decreased fertility OMIM:313200
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Ataxia, Paroxysmal bursts of laughter, Stereotypy, Hyperactivity ORPHA:228402
48,Xxyy Syndrome
Tremor, Depression, Ataxia, Anxiety, Stereotypy, Attention deficit hyperactivity disorder, Obesity ORPHA:10
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Hemiparesis, Emotional lability, Irritability, Hemidystonia, In... ORPHA:1929
Parkinson Disease 20, Early-Onset
Tremor, Eyelid apraxia, Dystonia, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
Adult-Onset Distal Myopathy Due To Vcp Mutation
Tremor, Depression, Difficulty walking, Parkinsonism, Anxiety, Fasciculations, Frequent falls ORPHA:329478
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Choreoacanthocytosis
Hair-pulling, Hypertonia, Head titubation, Weight loss, Emotional lability, Head-banging, Progres... ORPHA:2388
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Impaired distal vibration sensation, Dis... ORPHA:99027
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypertonia, Dystonia OMIM:617248
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Chromosome 2Q37 Deletion Syndrome
Aggressive behavior, Pain insensitivity, Self-injurious behavior, Hyperactivity, Obesity OMIM:600430
Adult-Onset Dystonia-Parkinsonism
Tremor, Eyelid apraxia, Clumsiness, Dystonia, Parkinsonism with favorable response to dopaminergi... ORPHA:199351
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Smith-Magenis Syndrome
Self-mutilation, Impaired pain sensation, Head-banging, Increased body weight, Stereotypy, Hypera... OMIM:182290
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Poor coordination, Ataxia, Obesity, Anxiety, Hyperactivity, Spasticity OMIM:618430
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Limb tremor, Paroxysmal bursts of laughter, Hyperactivity, B... OMIM:105830
Tonne-Kalscheuer Syndrome
Tremor, Aggressive behavior, Self-injurious behavior, Spasticity, Anxiety, Broad-based gait OMIM:300978
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Spasticity OMIM:304700
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Pa... OMIM:607060
13Q12.3 Microdeletion Syndrome
Self-mutilation, Impaired pain sensation, Failure to thrive, Hyperactivity, Obesity ORPHA:412035
Typhoid
Tremor, Hypertonia, Lethargy, Ataxia ORPHA:99745
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Recurrent hand f... ORPHA:449291
Waisman Syndrome
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Shuffling gait OMIM:311510
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Stereotypy, Hyperactivity OMIM:618504
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal pyramidal sign, Lower limb hypertonia, Spastic gait, Abnormality of pain sensati... ORPHA:447753
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Failure to thrive, Ataxia OMIM:220111
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Tremor, Spastic diplegia, Obesity ORPHA:480907
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Hypertonia, Self-injurious behavior, Ataxia, Hyperactivity OMIM:601853
Sialidosis Type 2
Tremor, Ataxia ORPHA:87876
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Limb dystonia, Rigidity, Spasticity OMIM:616840
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Dysmetria, Truncal titubation OMIM:618056
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Difficulty walking, Gait disturbance, Spastic tetrapar... ORPHA:139396
Lamb-Shaffer Syndrome
Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction ORPHA:530983
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Anxiety, Broad-based gait ORPHA:438216
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Small for gestational age, Weight loss, Hyperactivity ORPHA:424
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Gait disturbance, Toe walking, Babinski sign ORPHA:83629
Supranuclear Palsy, Progressive, 1
Tremor, Eyelid apraxia, Axial dystonia, Akinesia, Apathy, Bradykinesia, Parkinsonism, Falls, Limb... OMIM:601104
Angelman Syndrome
Inability to walk, Tremor, Inappropriate laughter, Aggressive behavior, Self-injurious behavior, ... ORPHA:72
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Hyperactivity, Cerebral... ORPHA:760
Mental Retardation, Autosomal Recessive 13
Truncal obesity, Hyperactivity OMIM:613192
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Tremor, Hypertonia ORPHA:1192
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Depression, Resting... OMIM:157640
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Stereotypy, Hyperactivity ORPHA:391307
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Cystathioninuria
Tremor ORPHA:212
Hyperekplexia 3
Exaggerated startle response, Hypertonia OMIM:614618
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, Tremor, Depression, Difficulty walking, Progressive cerebellar ataxia, Somati... ORPHA:502423
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Hemiparesis, Ataxia, Paraplegia, Spasticity OMIM:105210
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Hypertonia, Oculogyric crisis, Parkinsonism, Irritability, Cerebral palsy ORPHA:1578
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Failure to thrive, Ataxia OMIM:608799
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Hypertonia, Small for gestational age, ... OMIM:123450
Brain-Lung-Thyroid Syndrome
Dystonia, Apraxia, Clumsiness, Incoordination, Hyperactivity, Chorea, Ataxia, Falls, Myoclonus, F... ORPHA:209905
Hyperlysinemia
Tremor, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic diplegia, Neck hyperto... ORPHA:2203
Alternating Hemiplegia Of Childhood
Tremor, Episodic hemiplegia, Dystonia, Rigidity, Aggressive behavior, Chorea, Paroxysmal dyskines... ORPHA:2131
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss, Hyperactivity ORPHA:99819
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1