Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 6 (neurotransmitter transporter, GABA), member 1
Synonyms:
Gat1,  GAT-1,  Gabt,  XT-1,  Gabt1,  Xtrp1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Slc6a1 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 Slc6a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Attention deficit hyperact... ORPHA:1942

The table below shows human diseases predicted to be associated to Slc6a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty wal... ORPHA:85292
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
X-Linked Complicated Spastic Paraplegia Type 1
Cognitive impairment, Ataxia, Upper motor neuron dysfunction, Spastic paraplegia, Mental deterior... ORPHA:306617
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Cognitive impairment, Tremor, Ataxia, Spasticity OMIM:611105
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Motor deterioration, Cognitive impairment, Myoclonus, Abnormality of extrap... ORPHA:79262
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Distal sensory impairment, Limb ataxia, Gait ataxia OMIM:617018
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Ataxia, Upper motor neuron d... ORPHA:401901
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Mental deterioration OMIM:616187
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Progressive Myoclonic Epilepsy Type 1
Dementia, Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Dementia, Tremor by anatomical site, Cognitive i... ORPHA:98762
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Cognitive impairment, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, ... OMIM:615528
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Rigidity, Spastic gait, Memory impairment ORPHA:401849
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia ORPHA:94122
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cognitive impairment, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady g... OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... OMIM:615362
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Mental deterioratio... OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Dementia, Li... ORPHA:454887
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Dementia, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Cognitive impairment, Spasticity, Head tremor,... ORPHA:101109
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Aggressive behavior, Gait ataxia, Shyness OMIM:618221
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Spinocerebellar Ataxia Type 14
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Ga... ORPHA:98763
Glutathionuria
Tremor OMIM:231950
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor OMIM:300660
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Dementia, Abnormal pyramidal sign OMIM:301840
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Large for gestational age ORPHA:356996
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... OMIM:604326
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia 19
Postural tremor, Cognitive impairment, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxi... OMIM:607346
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Cognitive impairment, Myocl... ORPHA:314632
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Dysmetria, Cognitive impairment, Tremor, Oculomotor apraxia, Dysdiado... OMIM:617145
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Babinski sign, Inability to walk, Spastic tetraplegia OMIM:616657
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 43
Hyperactivity, Ataxia OMIM:617113
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Huntington Disease-Like 2
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Mental deterioration, Parki... OMIM:618093
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Frontotemporal dementi... OMIM:612953
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Juvenile Huntington Disease
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressive cerebella... ORPHA:248111
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Oromandibular dysto... ORPHA:216873
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Small for gestational age, Progressive neurologic deteriorat... OMIM:261640
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Dysmetria, Focal dystonia, Progressive cerebellar ataxia,... OMIM:605361
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Dementia, Falls, Bradykinesia, Spastic tetraplegia, Distal sensory i... OMIM:617225
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Impaired vibration sensation in the lower limbs, Limb ataxia, G... OMIM:610245
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
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Cognitive impairment, Tremor, Ataxia OMIM:612126
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Cognitive impairment, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal ... OMIM:614947
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... OMIM:616948
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:605909
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Spinocerebellar Ataxia 35
Babinski sign, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordination, Difficulty walking OMIM:613908
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Immunodeficiency 8
Hyperactivity OMIM:615401
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Tremor, Hypertonia OMIM:261630
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Mental deterioration, Attention deficit hyperactivity disorder, Dif... OMIM:619191
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cere... ORPHA:284332
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Mental deterioration,... OMIM:618317
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Cognitive impairment, Truncal ataxia OMIM:617584
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia OMIM:210000
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia, Gait ataxia, Diffic... ORPHA:98764
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:613728
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Impaired proprioception, Dementia, Dyssynergia, Choreoathetosis, Dysmetria... ORPHA:101
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Writer's cramp, Tremor OMIM:159900
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Falls, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
Childhood Disintegrative Disorder
Dementia, Motor deterioration, Social and occupational deterioration, Mental deterioration, Anxie... ORPHA:168782
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia OMIM:618387
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Gait disturbance, Cognitive impairment, Bra... OMIM:612067
Spinocerebellar Ataxia Type 21
Rigidity, Cognitive impairment, Abnormality of extrapyramidal motor function, Tremor, Progressive... ORPHA:98773
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dementia, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal ... ORPHA:99750
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Kufor-Rakeb Syndrome
Babinski sign, Gait disturbance, Dystonia, Dementia, Rigidity, Torticollis, Myoclonus, Bradykines... OMIM:606693
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Dystonia, Dementia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesi... OMIM:606159
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Cognitive impairment, Distal sensory impairment OMIM:616668
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Dementia, Myoclonic spasms, Dysmetria, Chorea, Cognitive impairment, Myoclo... ORPHA:79263
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Dementia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor,... OMIM:300894
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Spasticity OMIM:612716
Urocanic Aciduria
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia ORPHA:210128
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysmetria, Cognitive impairment, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Spastic gait, Cognitive impairment, Spasti... OMIM:616795
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Hereditary Central Diabetes Insipidus
Polydipsia, Lethargy ORPHA:30925
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Rigidity OMIM:615010
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Smith-Magenis syndrome
Hyperactivity, Stereotypy DECIPHER:8
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Spinocerebellar Ataxia 5
Dysmetria, Cognitive impairment, Intention tremor, Impaired vibratory sensation, Dysdiadochokines... OMIM:600224
Gerstmann-Straussler Disease
Dementia, Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasti... OMIM:137440
Caribbean Parkinsonism
Dystonia, Dementia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Frontal ... ORPHA:97355
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Spinocerebellar Ataxia 17
Dystonia, Dementia, Rigidity, Dysmetria, Chorea, Myoclonus, Frontal lobe dementia, Bradykinesia, ... OMIM:607136
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Dysmetria, Cognitive impairment, Bradykinesia, Tremor, Ataxia, Dysdiadoc... OMIM:615157
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia OMIM:619028
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Dementia, Choreoathetosis, Cognitive impairment, Tremor, Oculomotor apraxia, Ataxia, Di... OMIM:208920
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait ataxia OMIM:616719
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Spastic dysarthria, Lower limb spasticity, Impaired vibra... ORPHA:352641
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... OMIM:618598
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Ataxia, Impaired vibratory sensation, Limb ataxia, Ga... OMIM:609270
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Dementia, Rigidity, Cognitive impairment, Tremor, Ataxia, Somatic sensory dysfu... OMIM:603472
Spinocerebellar Ataxia 27
Postural tremor, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head tremor, Limb ataxia, ... OMIM:609307
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Dystonia 13, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... OMIM:607671
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Progressive psychomotor deterioration, Poor motor coordination, Dysmetria, Cognitive impairment, ... ORPHA:1170
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Suicidal ideation, Cognitive impairment, Lack o... ORPHA:96369
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... ORPHA:276435
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... ORPHA:397946
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Abnormal social behavior, Agoraphobia, Fatigable weakne... ORPHA:255
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Rigidity, Small for gestational age, Cerebral palsy, Cognitive impairm... ORPHA:70594
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Steppage gait, Tremor, Distal sensory impairment, Hypertonia, Spasticity, Mental d... OMIM:609260
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Dementia, Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty wa... OMIM:159950
Ataxia-Oculomotor Apraxia 4
Dystonia, Cognitive impairment, Tetraplegia, Oculomotor apraxia, Ataxia OMIM:616267
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Cognitive impairment, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric ... OMIM:618049
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... ORPHA:2590
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Tremo... OMIM:233910
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
Spinocerebellar Ataxia Type 29
Dysmetria, Cognitive impairment, Intention tremor, Oculomotor apraxia, Ataxia, Dysdiadochokinesis... ORPHA:208513
Perry Syndrome
Dementia, Weight loss, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Tremor, Ataxia, Hyperactivity, Dysdiadochok... ORPHA:228360
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonism, Gait ataxia, Limb... ORPHA:71517
Brain Dopamine-Serotonin Vesicular Transport Disease
Gait disturbance, Dystonia, Cognitive impairment, Shuffling gait, Tremor, Abnormality of coordina... ORPHA:352649
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Dementia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Stereotypy, Hyperactivity, Gait ataxia OMIM:609425
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dementia, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, Resti... OMIM:300623
Spinocerebellar Ataxia 15
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Ataxia With Vitamin E Deficiency
Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Mental det... ORPHA:96
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Parkinson Disease 8, Autosomal Dominant
Dementia, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication... OMIM:607060
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Failure to thrive, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking ORPHA:477673
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Epilepsy, Familial Adult Myoclonic, 2
Dementia, Cognitive impairment, Myoclonus, Tremor, Ataxia, Blepharospasm OMIM:607876
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Cognitive impairment, Abnormality of extrapyramidal motor function, Co... OMIM:607454
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Parkinson-Dementia Syndrome
Parkinsonism, Dementia, Rigidity, Tremor, Abnormal pyramidal sign OMIM:260540
Pelizaeus-Merzbacher Disease
Dystonia, Head titubation, Choreoathetosis, Failure to thrive, Cognitive impairment, Tremor, Atax... OMIM:312080
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Stereotypy OMIM:239500
Fraxe Intellectual Disability
Clumsiness, Stereotypical body rocking, Recurrent hand flapping, Hyperactivity ORPHA:100973
Saccharopinuria
Cognitive impairment, Tremor, Distal sensory impairment, Spastic diplegia, Mental deterioration, ... ORPHA:3124
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
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Attentio... ORPHA:276198
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Impaired distal proprioception, Loss of ambula... ORPHA:137898
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Spinocerebellar Ataxia 2
Postural tremor, Dementia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomot... OMIM:183090
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Tetraplegia, Hyperactivity, Hypertonia, Lethargy OMIM:274270
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Lower limb spa... ORPHA:206443
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hypertonia, Hemiparesis OMIM:604317
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Extrapyramidal muscular rigidity, Ina... ORPHA:93952
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal pyramidal sign, Gait a... OMIM:614831
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Poor motor coordination, Cognitive impairment, Myoclonus, ... ORPHA:363400
Primary Dystonia, Dyt4 Type
Involuntary movements, Gait disturbance, Dementia, Torticollis, Eunuchoid habitus, Laryngeal dyst... ORPHA:98805
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... ORPHA:420485
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:139485
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight, Dementia OMIM:278760
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Pelizaeus-Merzbacher Disease, Classic Form
Athetosis, Dystonia, Dystonic gait, Cognitive impairment, Abnormality of extrapyramidal motor fun... ORPHA:280219
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting tremor, Broad-base... ORPHA:3077
Familial Dyskinesia And Facial Myokymia
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking ORPHA:324588
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Social and occupatio... ORPHA:240071
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Babinski sign, Dementia, Loss of ambulation, Spastic gait, Spastic dysarthria, P... ORPHA:447757
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia ORPHA:99014
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Tremor, Inability to walk, Spastic paraparesis, Difficulty walking, Somatic sen... ORPHA:101077
Leukodystrophy, Hypomyelinating, 6
Dystonia, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... OMIM:617435
Dystonia 7, Torsion
Clumsiness, Writer's cramp, Torticollis, Hand tremor, Oromandibular dystonia, Torsion dystonia, B... OMIM:602124
Spinocerebellar Ataxia Type 17
Involuntary movements, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Writer's cramp, Tortic... ORPHA:98759
Gabriele-De Vries Syndrome
Tremor, Dystonia, Waddling gait OMIM:617557
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Sneddon Syndrome
Dementia, Chorea, Hemiparesis, Tremor, Mental deterioration, Memory impairment ORPHA:820
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking ORPHA:306669
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... OMIM:618877
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Dementia, Rigidity, Shuffling gait, Intention tremor, Ataxia, Resting tremor, Dysd... ORPHA:247234
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... OMIM:617384
Parkinson Disease 20, Early-Onset
Dystonia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Mental deterioration, P... OMIM:615530
Developmental And Epileptic Encephalopathy 68
Clonus, Failure to thrive, Myoclonus, Exaggerated startle response, Spasticity OMIM:618201
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation OMIM:619405
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Spinocerebellar Ataxia 34
Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abnormal pyramidal sign... OMIM:133190
4H Leukodystrophy
Dystonia, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Tremo... ORPHA:289494
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Tremor, Dis... OMIM:302800
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Failure to thrive, Myoclonus, Tremor, Abnormali... ORPHA:442835
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Dysmetria, Vestibular areflexia, Intention tremor, Progressive cerebellar ataxia, ... ORPHA:504476
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Crigler-Najjar Syndrome Type 1
Tremor, Memory impairment ORPHA:79234
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:619279
Classic Phenylketonuria
Paraplegia, Tremor, Hypertonia, Hemiplegia, Mental deterioration, Motor deterioration, Attention ... ORPHA:79254
Trisomy X
Tremor, Attention deficit hyperactivity disorder, Cognitive impairment ORPHA:3375
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Torsion dystonia, Tremor OMIM:224500
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Ataxia, Re... ORPHA:401768
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis ORPHA:391417
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Parkinson Disease 23, Autosomal Recessive Early-Onset
Dementia, Rigidity, Abnormal pyramidal sign, Resting tremor, Spasticity, Akinesia, Mental deterio... OMIM:616840
Mohr-Tranebjaerg Syndrome
Babinski sign, Dystonia, Dementia, Oromandibular dystonia, Shuffling gait, Focal dystonia, Tremor... ORPHA:52368
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Tremor, Ataxia, Hypertonia, Inability to walk, Attention deficit hyperactivity... OMIM:619556
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Poor eye contact ORPHA:444002
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Distal sensory impairment, Inability to walk, Somatic sensory dysfun... ORPHA:90117
Waisman Syndrome
Dementia, Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:311510
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Myoclonus, Intention tremor, Action tremor, Gait ataxia OMIM:254900
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor OMIM:610185
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Gait ataxia OMIM:617810
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Babinski sign, Dystonia, Choreoathetosis, Obesity, Spastic gait, Shuffling gait, Bradykinesia, Sp... OMIM:300055
Neuroferritinopathy
Involuntary movements, Babinski sign, Dystonia, Arm dystonia, Leg dystonia, Writer's cramp, Chore... ORPHA:157846
Mitochondrial Membrane Protein-Associated Neurodegeneration
Babinski sign, Gait disturbance, Dystonia, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... ORPHA:289560
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Perry Syndrome
Dystonia, Rigidity, Weight loss, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Fr... OMIM:168605
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Progressive neurologic deterioration, Increased body weight, Lethargy ORPHA:276608
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Dementia, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, ... ORPHA:282166
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Dystonia 24
Torticollis, Head tremor, Blepharospasm, Oromandibular dystonia OMIM:615034
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Dementia, Rigidity, Progressive neurologic deterioration, Tremor, Hypertonia, Spasticity OMIM:176500
Gm2-Gangliosidosis, Ab Variant
Paralysis, Dystonia, Dementia, Chorea, Exaggerated startle response, Spastic tetraparesis, Hypert... OMIM:272750
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Hyperactivity, Ataxia, Impaired social interactions, Progressive language de... OMIM:610042
Progressive Supranuclear Palsy
Dystonia, Dementia, Rigidity, Cognitive impairment, Falls, Bradykinesia, Tremor, Unsteady gait, B... ORPHA:683
Central Diabetes Insipidus
Polydipsia, Lethargy ORPHA:178029
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Abnormality of extrapyramidal motor f... ORPHA:500180
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Opisthotonus, Frequent falls, Weight loss, Cognitive impairment, Inability to w... ORPHA:216866
Peroxisome Biogenesis Disorder 5B
Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity OMIM:618718
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Cognitive impairment, Exaggerated startle response, Progressive spastic quadrip... ORPHA:309246
Glycine Encephalopathy
Hyperactivity, Myoclonus, Lethargy OMIM:605899
Jaberi-Elahi Syndrome
Dystonia, Choreoathetosis, Dysmetria, Failure to thrive, Tremor, Inability to walk, Spasticity, G... OMIM:617988
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Chorea, Resting tremor, Limb hypertonia OMIM:606703
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired tactile sensation, Gait ataxia OMIM:619092
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Generalized Epilepsy With Febrile Seizures-Plus
Cognitive impairment, Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination ORPHA:36387
Spinocerebellar Ataxia 8
Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal sign OMIM:608768
Parkinson Disease 1, Autosomal Dominant
Gait disturbance, Dystonia, Dementia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting ... OMIM:168601
Neurodegeneration With Brain Iron Accumulation 2B
Babinski sign, Dystonia, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Hypert... OMIM:610217
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Stereotypy OMIM:615541
Multiple System Atrophy
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:102
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Failure to thrive, Hyperactivity, Tics, Hypertonia, Broad-based gait, Unsteady gait OMIM:617865
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Tremor, Inability to walk, Oculogyric crisis, Difficulty walking ORPHA:330050
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Mental deterioration, Spasticity OMIM:304700
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Babinski sign, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... OMIM:607483
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Abnormality of extrapy... ORPHA:382
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Primary Progressive Freezing Gait
Postural tremor, Babinski sign, Clonus, Dementia, Gait imbalance, Rigidity, Frequent falls, Shuff... ORPHA:75567
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Ataxia, Abnormal social behavior, Memory impairment ORPHA:1020
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Limb tremor, Focal dystonia, Craniofacial... ORPHA:420492
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Gait disturbance, Pseudobulbar paralysis, Tremor, Tetraplegia, Spasticity, Spastic... OMIM:616586
Parkinson Disease, Late-Onset
Dystonia, Dementia, Rigidity, Bradykinesia, Tremor, Resting tremor, Short stepped shuffling gait,... OMIM:168600
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Gait disturbance, Dystonia, Dementia, Oromandibular dystonia, Abnormality of extra... OMIM:614298
Developmental And Epileptic Encephalopathy 42
Athetosis, Ataxia, Hypertonia, Tremor OMIM:617106
Ataxia-Telangiectasia
Gait disturbance, Failure to thrive, Cognitive impairment, Tremor, Ataxia, Spasticity ORPHA:100
Hypermanganesemia With Dystonia 1
Dystonia, Rigidity, Steppage gait, Abnormality of extrapyramidal motor function, Bradykinesia, Tr... OMIM:613280
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... ORPHA:1929
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior, Abnormal social behavior ORPHA:101039
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Ataxia, Failure to thrive, Lethargy OMIM:201100
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity, Hyperkinetic movements OMIM:617302
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Aceruloplasminemia
Involuntary movements, Dystonia, Rigidity, Torticollis, Chorea, Cognitive impairment, Tremor, Ata... ORPHA:48818
X-Linked Adrenoleukodystrophy
Clumsiness, Paralysis, Gait disturbance, Dementia, Cognitive impairment, Paraparesis, Progressive... ORPHA:43
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactiv... ORPHA:352490
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:227510
Hereditary Late-Onset Parkinson Disease
Dystonia, Dementia, Rigidity, Frequent falls, Weight loss, Shuffling gait, Bradykinesia, Parkinso... ORPHA:411602
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Dysmetria, Steppage gait, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia,... OMIM:616505
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Stereotypy, Ataxia, Hy... OMIM:614104
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Abnormality of pain sensation, Tremor, Ataxia, Recurrent han... ORPHA:544254
Pyruvate Dehydrogenase Deficiency
Gait disturbance, Dystonia, Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spasticity, Abnormal... ORPHA:765
Subacute Inflammatory Demyelinating Polyneuropathy
Gait disturbance, Frequent falls, Choreoathetosis, Steppage gait, Positive Romberg sign, Tremor, ... ORPHA:206594
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Sneddon Syndrome
Tremor, Mental deterioration, Hemiplegia OMIM:182410
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Gait ataxia, Difficulty walking ORPHA:529665
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Abnormal pyramidal sign, Gait disturbance, Clonus, Dementia, Dysmetria, ... ORPHA:99027
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... ORPHA:98933
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Hypertonia, Progressive neurologic deterioration ORPHA:1192
Young-Onset Parkinson Disease
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... ORPHA:2828
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Obesity, Broad-based gait ORPHA:411515
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor OMIM:615578
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... ORPHA:139396
Dystonia 1, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Tremor, Hypertonia, Torsion dystonia, Blepharospasm OMIM:128100
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Poor eye contact, Hyperactivity, Ataxia, Low ... ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Dystonia, Dementia, Rigidity, Choreoathetosis, Eyelid apraxia, Ab... OMIM:234200
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:619422
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Bardet-Biedl Syndrome 17
Cognitive impairment, Anosmia, Hyposmia, Polydipsia OMIM:615994
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Eyelid myoclonus, Oculomotor apraxia, Ataxia, Incoordination, Abnormal pyramidal sign OMIM:618060
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Small for gestational age, Increased body mass index, Truncal obesity, Tremor, ... OMIM:300957
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Decreased body weight OMIM:618342
Cystathioninuria
Tremor ORPHA:212
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Chorea, Ataxia, Hypertonia, Hyperactivity ORPHA:52503
Riboflavin Transporter Deficiency
Tremor, Ataxia, Cachexia, Myoclonus ORPHA:97229
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Clonus, Frequent falls, Choreoathetosis, Chorea, Abnormality of extrapyrami... OMIM:615673
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Impaired pain sensation, Fasciculations, Impaired tandem gait, Tr... OMIM:619574
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety OMIM:616977
Epilepsy, Progressive Myoclonic, 10
Dementia, Cognitive impairment, Myoclonus, Spastic tetraplegia, Spastic ataxia, Ataxia, Progressi... OMIM:616640
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Babinski sign, Dystonia, Gait imbalance, Choreoathetosis, Oculomotor apraxia, At... ORPHA:64753
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Dementia, Spastic gait, Abnormality of pain sensation, Spastic dysarthria, Falls, ... ORPHA:447753
Tay-Sachs Disease
Psychomotor deterioration, Hypertonia, Exaggerated startle response, Dementia OMIM:272800
Gand Syndrome
Hyperactivity, Tics OMIM:615074
Tay-Sachs Disease
Clumsiness, Progressive spasticity, Gait disturbance, Dystonia, Frequent falls, Dysmetria, Myoclo... ORPHA:845
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Hyperactivity, Impaired vibr... OMIM:609727
3-Methylglutaconic Aciduria, Type Viii
Tremor, Dystonia, Hypertonia OMIM:617248
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Adult-Onset Distal Myopathy Due To Vcp Mutation
Dementia, Frequent falls, Progressive neurologic deterioration, Fasciculations, Tremor, Parkinson... ORPHA:329478
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Exaggerated startle response, Impaired vibration se... ORPHA:320406
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
East Syndrome
Polydipsia, Salt craving, Ataxia, Inability to walk, Difficulty walking ORPHA:199343
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Dystonia, Progressive extrapyramidal movement disorder, Rigidity, Eyelid apraxia, Myo... ORPHA:199351
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia OMIM:304900
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Babinski sign, Spasticity OMIM:617773
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... ORPHA:168491
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional lability, Abn... ORPHA:309263
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity, Spasticity OMIM:615286
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Dementia, Dystonia, Progressive gait ataxia, Emotional lab... ORPHA:309271
Infantile Neuroaxonal Dystrophy
Progressive spasticity, Gait disturbance, Dystonia, Psychomotor deterioration, Spastic tetrapares... ORPHA:35069
Sporadic Infantile Bilateral Striatal Necrosis
Babinski sign, Gait disturbance, Dystonia, Chorea, Bradykinesia, Resting tremor, Hemiplegia, Park... ORPHA:225147
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Impaired proprioception, Dystonia, Impaired distal tactile sensation, Chorea, Progressive gait at... OMIM:606002
Amyloidosis, Hereditary, Transthyretin-Related
Dementia, Paraplegia, Hemiparesis, Tremor, Ataxia, Spasticity OMIM:105210
Oculopharyngodistal Myopathy 3
Tremor, Ataxia OMIM:619473
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Stereotypy, Tremor, Hyperkinetic movements, Overweight ORPHA:457240
Familial Cold Urticaria
Polydipsia ORPHA:47045
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response, Rigidity ORPHA:3198
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Myoclonus, Tongue thrusting, Tremor, Ataxia, Hyperactivity, Broad-based gait, Obe... ORPHA:98794
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Babinski sign, Gait disturbance, Tremor, Tip-toe gait, Spastic paraplegia ORPHA:83629
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Tetraplegia, Abnormal pyramidal sign, Hyperactivity, Failure to thrive ORPHA:369939
Proximal 16P11.2 Microduplication Syndrome
Tremor, Decreased body mass index, Attention deficit hyperactivity disorder, Failure to thrive ORPHA:370079
Supranuclear Palsy, Progressive, 1
Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Frontolimbic dementia, Falls, Bradykine... OMIM:601104
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Myoclonus, Lower limb spasticity, Progressive cerebellar ataxia, H... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy OMIM:618504
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Tremor, Dystonia, Spastic diplegia, Obesity ORPHA:480907
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Hyperkinetic movements OMIM:271980
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response ORPHA:163985
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Decreased body weight, Broad-based gait, Spasticity OMIM:300958
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Recurrent hand flapping OMIM:615516
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor, Weight loss, Small for gestational age ORPHA:424
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Distal sensory impairment, Trun... OMIM:617675
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Hyperactivity, Irritabil... ORPHA:449291
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Waddling gait, Difficulty walking ORPHA:280763
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Attention deficit hyperact... ORPHA:1942
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Dystonia, Dementia, Poor motor coordination, Rigidity, Chorea, Cognitive impairment, T... ORPHA:25
Teratoma, Pineal
Polydipsia OMIM:273120
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia OMIM:618056
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
Insulinoma
Lethargy, Paresthesia, Abnormality of pain sensation, Tremor, Increased body weight, Transient gl... ORPHA:97279
Typhoid
Tremor, Ataxia, Hypertonia, Lethargy ORPHA:99745
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Spasticity ORPHA:457260
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Hyperactivity, Gait ataxia, Abdominal obesity OMIM:300354
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Rigidity, Cognitive impairment, Bradykinesia, Tremor, Ataxia, Parkinsonism OMIM:146500
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619467
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Failure to thrive OMIM:220111
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Sandhoff Disease
Progressive psychomotor deterioration, Impaired temperature sensation, Exaggerated startle respon... OMIM:268800
Sialidosis Type 2
Tremor, Ataxia ORPHA:87876
Hyperekplexia 1
Hypertonia, Myoclonus, Exaggerated startle response, Frequent falls OMIM:149400
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Ataxia, Mental deterioration, Memory impairment ORPHA:79095
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Tonne-Kalscheuer Syndrome
Shyness, Self-injurious behavior, Aggressive behavior, Broad-based gait, Anxiety OMIM:300978
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Cognitive impairment, Ataxia OMIM:601853
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Obesity OMIM:301013
Ddost-Cdg
Tremor, Oromotor apraxia, Failure to thrive ORPHA:300536
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor, Weight loss ORPHA:99819
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Upper motor neuron dysfunction, Stereotypy ORPHA:530983
Amish Nemaline Myopathy
Tremor ORPHA:98902
Brain-Lung-Thyroid Syndrome
Clumsiness, Involuntary movements, Dystonia, Choreoathetosis, Failure to thrive, Chorea, Myoclonu... ORPHA:209905
Ochoa Syndrome
Polydipsia ORPHA:2704
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Dementia, Spasticity, Intention tremor OMIM:117300
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Cystinosis
Gait disturbance, Polydipsia ORPHA:213
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Purine Nucleoside Phosphorylase Deficiency
Cerebral palsy, Ataxia, Hypertonia, Hyperactivity, Spasticity, Abnormal central motor function, S... ORPHA:760
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Angelman Syndrome
Clumsiness, Limb tremor, Progressive gait ataxia, Hyperactivity, Broad-based gait, Obesity OMIM:105830
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Babinski sign, Ataxia, Resting tremor, Spasticity, Head tremor, Mental deterioration, Memory impa... ORPHA:314404
Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Large for gestational age, Tremor, Increased body weight, L... ORPHA:263455
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Aggressive behavior, Ataxia, Nonprogressive cerebellar ataxia, Unsteady gait, Abnormal... ORPHA:314647
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Salt craving, Dysdiadochokinesis, Ataxia, Polydipsia OMIM:612780
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination