Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
inositol polyphosphate-4-phosphatase, type I
Synonyms:
107kDa

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 Inpp4a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Inpp4a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Hypoplasia of the corpus callosum, Impaired vibration sensation in the lower ... ORPHA:171622
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy, Incoordination, Slurred speech ORPHA:98766
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis, Focal d... ORPHA:329466
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Resting tremor, Bradykinesia, Brain atrophy, ... ORPHA:391411
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Ataxia, ... OMIM:618174
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Generalized hypotonia, Gliosis, Hypotonia, Limb ataxia, Ataxia, Unsteady gai... OMIM:213200
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Ankl... OMIM:611252
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Dystonia 30
Dystonia, Loss of ability to walk, Writer's cramp, Torticollis, Leg dystonia, Arm dystonia, Oroma... OMIM:619291
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Substantia nigra gliosis, Rig... OMIM:600116
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Rigidity OMIM:614203
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Ataxia, Cerebellar at... OMIM:616948
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Difficulty walking, Limb ataxia, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Neurodegeneration, Ataxia, Cerebellar atrophy, Periventricular leukoma... OMIM:615889
Dystonia 4, Torsion, Autosomal Dominant
Slender build, Torsion dystonia, Gait ataxia, Torticollis, Generalized dystonia, Limb dystonia OMIM:128101
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Intention tremor, Broad-based gait, Nonprogre... ORPHA:94122
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Rigidity ORPHA:98773
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Muscular hypotonia of the trunk, Hypokinesia, Limb dystonia, Rigidity OMIM:605407
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Agenesis of corpus callosum, Limb ataxia, Cerebellar atrophy, Impaired vibra... OMIM:610245
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Craniofacial dystonia, Action tremor, Torticollis, G... ORPHA:98807
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Cerebral atrophy, Action tremor, Ataxia, Brady... ORPHA:98762
Corticobasal Syndrome
Tremor, Dystonia, Akinesia, Gait disturbance, Bradykinesia, Progressive extrapyramidal muscular r... ORPHA:454887
Leukodystrophy, Hypomyelinating, 11
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Cerebellar atrophy, Torticollis, Dysmetria, Intention... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Cerebral atrophy, Torticollis, Cerebellar atrophy, Spasticity OMIM:618369
Dystonia 25
Lingual dystonia, Laryngeal dystonia, Torticollis, Limb dystonia OMIM:615073
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Atrophy/Degeneration affecting ... OMIM:616192
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myo... OMIM:600143
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Hypertonia, Cerebral atrophy, Megalencephaly, Diffuse swellin... OMIM:613925
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Gait disturbance, Bradykinesia, Hypokinesia, Degeneration of the striatum, Ri... OMIM:609161
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Loss of ability to walk, Blepharospasm, Unsteady gait, Falls, Short stepped shuffling g... ORPHA:240094
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Akinesia, Limb ataxia, Ataxia, Progres... OMIM:607454
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Babinski sign, Microcephaly, Spasticity OMIM:614322
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Diffuse cerebellar atrophy, Limb d... ORPHA:363710
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Akinesia, Gait disturbance, Hypertonia, Ataxia, Bradykinesi... OMIM:606693
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Ataxia, Abnormal cerebellum morphology, Babinski sign OMIM:618418
Leukoencephalopathy, Brain Calcifications, And Cysts
Tremor, Dystonia, Gait disturbance, Ataxia, Spasticity OMIM:614561
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... OMIM:615768
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Myoclonus, Intention tremor, Rigidity OMIM:618876
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Lingual dystonia, Torticollis, Limb dystoni... OMIM:602629
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Spinocerebellar Ataxia 17
Dystonia, Gait ataxia, Gliosis, Limb ataxia, Ataxia, Bradykinesia, Cerebellar atrophy, Dysmetria,... OMIM:607136
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Ataxia, Polymicrogyria, Cortical dysplasia, Microcephaly OMIM:615771
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Increased n... OMIM:162350
Striatonigral Degeneration, Childhood-Onset
Dystonia, Hypertonia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait OMIM:617054
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Hyperactivity, Microcephaly, Simpl... OMIM:613402
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy,... OMIM:617862
Huntington Disease
Gait ataxia, Gliosis, Bradykinesia, Cerebellar atrophy, Rigidity, Neuronal loss in central nervou... OMIM:143100
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615705
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Neurodegeneration With Brain Iron Accumulation 7
Hypoplasia of the corpus callosum, Cerebral atrophy, Loss of ability to walk, Ataxia, Cerebellar ... OMIM:617916
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Dysmetria, Babinski sign OMIM:607458
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Muscular hypotonia of the tru... OMIM:617013
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Cerebellar atroph... OMIM:618090
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Microcep... OMIM:611726
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Gliosis, Bradykinesia, Rigidity, Neuronal loss in central nervous system, Shuffling gait, Spasticity OMIM:221820
Perry Syndrome
Tremor, Dystonia, Akinesia, Bradykinesia, Weight loss, Short stepped shuffling gait, Rigidity OMIM:168605
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Hypertonia, Cerebral atrophy, Postnatal growth retardation OMIM:614023
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Dystonia, Toe walking, Spastic gait, Unsteady gait ORPHA:320411
Supranuclear Palsy, Progressive, 1
Tremor, Axial dystonia, Gliosis, Akinesia, Bradykinesia, Falls, Granulovacuolar degeneration, Lim... OMIM:601104
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Lethargy, Gait ataxia, Generalized hypotonia, Ataxia, Bradykinesia, Hypokinesia,... ORPHA:101150
Dandy-Walker Syndrome
Truncal ataxia, Partial absence of cerebellar vermis, Posterior fossa cyst at the fourth ventricl... OMIM:220200
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Rigidity, Spa... ORPHA:385
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bradykinesia, Act... OMIM:300423
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Lower limb spasticity, Cerebellar atrophy, Spastic gait... OMIM:610357
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Neonatal hypotonia, Short stature, Akinesia, Obesity OMIM:618822
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Axial dystonia, Dystonia, Akinesia, Blepharospasm, Bradykinesia, Progressive extrapyramid... ORPHA:240071
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Rigidity OMIM:168100
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Cerebral cortical atrophy, Cerebe... OMIM:604326
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Hand tremor, Axonal degeneration OMIM:604484
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Cerebral cortical atrophy, Limb dystonia, Rigidity, Spasticity OMIM:616840
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Generalized hypotonia, Abnormal posturing, Hypertonia, Blepharospasm, W... OMIM:128100
Developmental And Epileptic Encephalopathy 76
Inability to walk, Upper limb spasticity, Hypoplasia of the corpus callosum, Cerebral atrophy, Lo... OMIM:618468
Progressive Supranuclear Palsy
Tremor, Dystonia, Gliosis, Blepharospasm, Bradykinesia, Cerebral cortical atrophy, Unsteady gait,... ORPHA:683
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Cerebral atrophy, Bradykinesia, Infantile axial hypotonia, Progressive inabilit... ORPHA:521406
Manganese Poisoning
Postural tremor, Dystonia, Cogwheel rigidity, Akinesia, Gait disturbance, Hypertonia, Bradykinesia ORPHA:306682
Camos Syndrome
Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Ataxia, Brain... ORPHA:83472
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... ORPHA:101112
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Gait disturbance, Cerebral atrophy, Hyperkinetic movements, Cerebellar atrophy, ... OMIM:616981
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Ataxia, Hyperactivity, Neuronal loss in central nervous syste... OMIM:615924
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Generalized hypotonia, Ataxia, Cerebellar atrophy, Failure to thrive... OMIM:618276
Hereditary Late-Onset Parkinson Disease
Dystonia, Gliosis, Akinesia, Resting tremor, Bradykinesia, Weight loss, Cerebral cortical atrophy... ORPHA:411602
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Developmental And Epileptic Encephalopathy 14
Generalized hypotonia, Gliosis, Hypotonia, Cerebral cortical atrophy, Neuronal loss in central ne... OMIM:614959
Leukodystrophy, Hypomyelinating, 14
Dystonia, Generalized hypotonia, Growth delay, Cerebral atrophy, Cerebellar atrophy, Spasticity OMIM:617899
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Ataxia, Truncal ataxia OMIM:617584
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Supranuclear Palsy, Progressive, 2
Postural tremor, Axial dystonia, Gliosis, Akinesia, Bradykinesia, Falls, Granulovacuolar degenera... OMIM:609454
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Cerebellar cortical ... ORPHA:247234
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Neurodegeneration, Toe walking, Bradykinesia, Sp... OMIM:615643
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Intrauterine growth retardation, Dystonia, Spastic tetraplegia, Muscular hypotonia of the trunk OMIM:251280
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Cerebellar at... OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Leukoencep... OMIM:618387
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... OMIM:610246
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Cerebral white matte... OMIM:618730
Lissencephaly Type Iii And Bone Dysplasia
Central nervous system degeneration, Neuronal loss in central nervous system, Akinesia OMIM:601160
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Spinocerebellar Ataxia 4
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... OMIM:600223
Dystonia 28, Childhood-Onset
Dystonia, Gait disturbance, Toe walking, Spasticity, Craniofacial dystonia, Laryngeal dystonia, T... OMIM:617284
Developmental And Epileptic Encephalopathy 38
Dystonia, Hypertonia, Generalized hypotonia, Ataxia OMIM:617020
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait ORPHA:284271
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar hypoplasia, Cerebral cortical atrophy, Progress... ORPHA:314603
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Generalized hypotonia, Hypotonia, Cerebral atrophy, Ataxia, Obesity,... OMIM:616756
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... OMIM:605361
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Cerebral atrophy, Neurodegeneration, Bradykinesia, Cerebel... OMIM:300894
Ataxia-Oculomotor Apraxia 4
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia OMIM:616267
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Choreoathetosis, Abnormality of extrapyramidal motor function OMIM:301020
Pontocerebellar Hypoplasia, Type 2D
Abnormal periventricular white matter morphology, Chorea, Hypoplasia of the corpus callosum, Cere... OMIM:613811
Postencephalitic Parkinsonism
Cogwheel rigidity, Akinesia, Resting tremor, Bradykinesia, Oculogyric crisis, Rigidity, Tremor by... ORPHA:97349
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Cerebellar atrophy OMIM:609306
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent li... OMIM:256731
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Truncal ataxia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Postnatal growth retardation, Short stature, Ataxia OMIM:616113
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Dysmetria, ... OMIM:611390
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Bradykinesia, Rigidity, Shuffling gait, Spasticity OMIM:615528
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Cerebellar atrophy, Lower limb s... OMIM:607565
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus... OMIM:604213
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Resting tremor, Br... OMIM:128230
Huntington Disease-Like 2
Dystonia, Gait disturbance, Weight loss, Cerebral cortical atrophy, Caudate atrophy ORPHA:98934
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria OMIM:616127
Mental Retardation, Autosomal Recessive 6
Tremor, Dystonia OMIM:611092
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Generalized hypotonia, Hypertonia, Dysmetria, Intention tremor, Broad-base... OMIM:617964
Developmental And Epileptic Encephalopathy 7
Dystonia, Spastic tetraparesis, Generalized hypotonia, Hypotonia OMIM:613720
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Torticollis, Ataxia, Dystonia OMIM:618425
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Cerebellar atrophy, Cerebellar ver... ORPHA:512260
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Limb dystonia, Rigidity, Spasticity ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:610743
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Gliosis OMIM:613002
Dystonia 16
Postural tremor, Bradykinesia, Torticollis, Unsteady gait, Limb dystonia ORPHA:210571
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Huntington Disease-Like 1
Gait ataxia, Generalized hypotonia, Gliosis, Abnormal posturing, Gait disturbance, Bradykinesia, ... ORPHA:157941
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity OMIM:617691
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Pachygyria, Cerebellar hypoplasia, Cerebellar at... OMIM:224050
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Gliosis, Difficulty walking, Ataxia, Lower limb spasticity, Titubation, Short ... ORPHA:280210
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Gait disturbance, Dystonia, Spastic paraplegia OMIM:108600
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Dystonia, Gait ataxia, Basal ganglia gliosis, Cogwheel rigidity, Atrophy/Degenerati... ORPHA:225154
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Generalized hypotonia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticol... ORPHA:71517
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Truncal ataxia, Limb ataxia, Neonatal hypotonia, Head titubation, Cerebellar atrophy, S... OMIM:617560
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ataxia, Bradykinesia, N... ORPHA:248111
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Writer's cramp, Paroxysmal dystonia ORPHA:163727
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:615386
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Tremor, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Diaminopentanuria
Neurodegeneration, Ataxia, Spasticity OMIM:222350
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Muscular hyp... ORPHA:255
Dystonia 11, Myoclonic
Tremor, Generalized hypotonia, Writer's cramp, Torticollis, Hypotonia OMIM:159900
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Cerebral atrophy, Bradykinesia, Muscular hypotonia of the trunk, Un... OMIM:617435
Parkinson Disease 14, Autosomal Recessive
Tremor, Dystonia, Global brain atrophy, Bradykinesia, Frontotemporal cerebral atrophy, Rigidity, ... OMIM:612953
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Generalized hypotonia, Bradykinesia, Ataxia, Short stature, Rigidity OMIM:617836
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Clumsiness, Truncal ataxia, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Weight loss, Opisthotonus, ... ORPHA:216866
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Muscular hypotonia of the trunk, Hypokinesia, Rigidity, Spasticity OMIM:616211
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Primary Dystonia, Dyt21 Type
Paroxysmal dystonia, Axial dystonia, Dystonia, Blepharospasm, Laryngeal dystonia, Torticollis, Ge... ORPHA:306734
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Gait disturbance, Bradykinesia, Diffuse cerebral atrophy, Rigi... ORPHA:314632
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Hypoplasia of the corpus callosum... OMIM:617672
Aceruloplasminemia
Tremor, Dystonia, Gait ataxia, Akinesia, Limb ataxia, Blepharospasm, Ataxia, Craniofacial dystoni... ORPHA:48818
Striatonigral Degeneration, Infantile
Dystonia, Failure to thrive, Spasticity OMIM:271930
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Progressive Supranuclear Palsy-Corticobasal Syndrome
Tremor, Bradykinesia, Progressive extrapyramidal muscular rigidity, Focal dystonia, Rigidity, Dim... ORPHA:240103
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Severe muscular hypotonia, Hypokinesia OMIM:618184
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Inten... OMIM:600224
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Muscular hypotonia of the trunk, Spasticity OMIM:607317
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait OMIM:260300
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Hypertonia, Cerebral atrophy, Cerebellar atrophy, Small for gestational age, Intrauterin... OMIM:615095
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Amyotrophic lateral sclerosis, Gliosis, Athetosis OMIM:300857
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Hemidystonia-Hemiatrophy Syndrome
Rhizomelic leg shortening, Dystonia, Limb dystonia ORPHA:306741
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Ataxia, Muscular hypotonia of the trunk, Cerebellar atrophy, Short stature, Rig... OMIM:612438
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Cerebral atrophy, Clumsiness, Increased neuronal autofluorescent lipopigment OMIM:610003
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Ataxia, Neurodegeneration OMIM:610951
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Generalized hypotonia, Difficulty walking, Bradykinesia, Brain atrophy, Cerebra... ORPHA:306669
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Kinetic tremor, Gait ataxia, Cerebral white matter atrophy, Cerebellar... ORPHA:98756
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Tremor, Waddling gait, Dystonia OMIM:617557
Huntington Disease-Like 2
Dystonia, Weight loss, Action tremor, Bradykinesia, Rigidity OMIM:606438
Autosomal Dominant Cerebellar Ataxia
Postural tremor, Tremor, Dystonia, Akinesia, Gait disturbance, Resting tremor, Action tremor, Pro... ORPHA:99
Combined Oxidative Phosphorylation Deficiency 14
Generalized hypotonia, Gliosis, Growth delay, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degen... OMIM:614946
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebel... OMIM:614831
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Abnormal posturing, Dystonia OMIM:304700
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Hypopl... ORPHA:98
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gliosis, Hypotonia, Gait disturbance, Truncal obesity, Small for gestational age, Short s... OMIM:300957
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Ataxia, Cerebellar vermis atrophy, Dysmetria OMIM:618501
Spinocerebellar Ataxia, X-Linked 3
Lethargy, Generalized hypotonia, Gliosis, Hypotonia, Head titubation, Cerebellar atrophy, Dysmetr... OMIM:301790
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Cerebellar atrophy, Distal sensory impairment, Steppage gait OMIM:607250
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Atrophy of the spinal cord, Ataxia, Cerebellar atrophy, Babinski sign, Progress... OMIM:612020
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Hypertonia, Bradykinesia, Ataxia, Muscular hypotonia of the trunk, Small for ge... OMIM:261640
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Cerebellar atrophy, Impaired tandem gait, Myoclonus, Dysme... OMIM:619028
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Spasticity OMIM:617829
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia OMIM:614229
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue fasciculat... OMIM:618170
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Dystonia, Generalized hypotonia OMIM:616763
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... OMIM:618317
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Chore... OMIM:618088
Myopathy, Congenital, Compton-North
Neonatal hypotonia, Small for gestational age, Akinesia OMIM:612540
Primary Dystonia, Dyt6 Type
Dystonia, Blepharospasm, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis... ORPHA:98806
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Dystonia, Akinesia, Global brain atrophy, Gait disturbance, Neurodegeneration, Blepharosp... OMIM:234200
Combined Oxidative Phosphorylation Deficiency 39
Intrauterine growth retardation, Dystonia, Spasticity OMIM:618397
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Corpus callosum atrophy, Muscular hypotonia of the trunk, Cerebral c... OMIM:618285
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis, Cerebellar atrophy, D... ORPHA:330050
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Abnormal periventricular white matter morpholo... OMIM:612319
Neurodegeneration With Brain Iron Accumulation 2A
Generalized hypotonia, Gliosis, Cerebral atrophy, Neurodegeneration, Ataxia, Unsteady gait, Cereb... OMIM:256600
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia, Cerebral atrophy OMIM:610181
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Growth delay, Hypertonia, Small for gestational age, Spastic tetraplegia, Failure to th... OMIM:619147
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Generalized hypotonia, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Oculo... OMIM:617384
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... ORPHA:98772
Glut1 Deficiency Syndrome 2
Tremor, Cerebral atrophy, Ataxia, Dystonia OMIM:612126
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Rigidity, Ataxia, Dystonia ORPHA:401901
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Reduction of oligodendroglia, Generalized hypotonia, Progressive spastic quadri... OMIM:312080
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Generalized hypotonia, Ataxia, Cerebellar atrophy, Dysmetria, Failure to thrive, Spasti... OMIM:617954
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Dystonia, Generalized hypotonia, Cerebral cortical atrophy, Spasticity OMIM:617820
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Ataxia, Cerebellar atrophy, Cachexia, Dysmetria OMIM:618093
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gliosis, Gait disturbance, Resting tremor, Bradykinesia, Hypokinesia, Rigidity, Shuffli... OMIM:168601
Leukodystrophy, Hypomyelinating, 18
Dystonia, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, ... OMIM:618404
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Overweight, Facial hypotonia, Hypotonia, Difficulty walking, Cerebral cortical atrophy,... ORPHA:280763
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Neonatal hypotonia, Cerebral atrophy, Spasticity, Failure to thrive, Hypotonia OMIM:616034
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia OMIM:314250
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Rigidity, Resting tremor, Bradykinesia OMIM:605909
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Generalized hypotonia, Gliosis, Hypotonia OMIM:615119
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Bradykinesia, Spastic gait, Short stature, Hemidystonia OMIM:619052
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Growth delay, Ataxia, Muscular hypotonia of the trunk, Hyperactivity, Spasticity OMIM:612716
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Cerebellar atrophy, Rigidity ORPHA:329284
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Hypotonia, Dystonia OMIM:261630
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Growth delay, Bradykinesia, Muscular hypotonia of the trunk, Oculogyric crisis,... ORPHA:70594
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Akinesia OMIM:225790
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Dystonia, Spastic tetraparesis, Failure to thrive ORPHA:67046
Combined Oxidative Phosphorylation Deficiency 1
Global brain atrophy, Hypertonia, Muscular hypotonia of the trunk, Hypokinesia, Intrauterine grow... OMIM:609060
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Gait ataxia, Atrophy of the spinal cord, Lower limb spasticity, Cerebellar at... ORPHA:139480
Huntington Disease
Inability to walk, Dystonia, Decreased body mass index, Difficulty walking, Gait disturbance, Cer... ORPHA:399
Gm2 Gangliosidosis, Ab Variant
Dystonia, Progressive spastic quadriplegia, Cerebral atrophy, Neurodegeneration, Postnatal growth... ORPHA:309246
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Generalized hypotonia, Difficulty walking, Cerebral atrophy, Head titubation, Ataxia, C... ORPHA:527497
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Muscular Hypertonia, Lethal
Hypokinesia, Hypertonia OMIM:254120
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Ankle clonus, Cerebellar atrop... OMIM:618598
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis OMIM:118800
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Cerebral atrophy, Ataxia, Brain atrophy, Cerebral cortical atrophy, Unsteady ga... ORPHA:79263
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Writer's cramp OMIM:608105
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Ataxia, Failure to thrive in infancy, Short stature OMIM:619065
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Gait disturbance, Craniofacial dystonia, Ataxia, Spasticity OMIM:617282
Leukoencephalopathy With Vanishing White Matter
Lethargy, Generalized hypotonia, Gliosis, Hypotonia, Gait disturbance, Unsteady gait, Spasticity OMIM:603896
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Hypotonia ORPHA:139485
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Cerebral atrophy, Hypotonia OMIM:618497
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Cerebral atrophy, Ataxia, Neuronal loss in central nervous system, Spasticity ORPHA:204
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Gliosis, Upper limb spasticity, Gait disturbance, Short stature, Hypotonia ORPHA:457240
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Dystonia, Ataxia OMIM:619196
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Writer's cramp, Torticollis, Oromandibular dystonia OMIM:602124
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Upper limb spasticity, Spastic tetraparesis, Spasticity of pharyngeal muscles, Amyotrop... OMIM:205100
Rare Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, Difficulty walking, Cerebral atrophy, Spasticity ORPHA:101685
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Upper limb spasticity, Head tremor, Hypoplasia of the corpus ... OMIM:614409
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Gait disturbance, Focal dystonia, Limb dystonia, Oromandibular dystonia, Rigidity, Spasti... ORPHA:216873
Leigh Syndrome
Dystonia, Generalized hypotonia, Gliosis, Hypotonia, Ataxia, Failure to thrive, Spasticity OMIM:256000
Ataxia-Pancytopenia Syndrome
Abnormal cerebral white matter morphology, Ankle clonus, Ataxia, Cerebellar atrophy, Unsteady gai... OMIM:159550
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Cerebral atrophy, Oculogyric crisis, Severe muscular hypotonia, Spas... OMIM:614254
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Spastic tetraplegia OMIM:618646
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Spastic tetraplegia, Ataxia, Infantile muscular hypotonia ORPHA:263410
Spastic Paraplegia 50, Autosomal Recessive
Spastic paraplegia, Gliosis, Neonatal hypotonia, Cerebellar atrophy, Spastic tetraplegia OMIM:612936
Infantile Dystonia-Parkinsonism
Dystonia, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Hypokinesia, Oculogyric cris... ORPHA:238455
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Generalized hypotonia, Spastic tetraplegia, Failure to thrive, Intrauterine growth reta... OMIM:618238
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Dystonia, Gait disturbance, Cerebral cortical atrophy, Rigidity, Neuronal loss in c... OMIM:600795
Leukodystrophy, Hypomyelinating, 2
Dystonia, Spastic paraparesis, Cerebral atrophy, Head titubation, Ataxia, Muscular hypotonia of t... OMIM:608804
Combined Oxidative Phosphorylation Deficiency 2
Hypokinesia, Neonatal hypotonia, Lethargy, Small for gestational age OMIM:610498
Fetal Akinesia Deformation Sequence
Hypokinesia, Akinesia, Intrauterine growth retardation ORPHA:994
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Upper limb spasticity, Hypertoni... ORPHA:300605
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Dystonia, Cerebral atrophy, Generalized hypotonia OMIM:615338
Mitochondrial Myopathy With Lactic Acidosis
Dystonia, Generalized hypotonia, Hypotonia, Growth delay, Toe walking, Postnatal growth retardati... OMIM:251950
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Cerebral cortical atrophy,... OMIM:609195
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, Larynge... OMIM:606159
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Bradykinesia, Falls, Rigidity ORPHA:240085
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Dystonia, Generalized hypotonia OMIM:618222
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Dystonia, Cerebral atrophy, Ataxia, Cerebellar atrophy, Short stature, Intenti... OMIM:617951
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Dystonia, Basal ganglia gliosis, Gliosis, Cerebral atrophy, Ataxia, Small for ... ORPHA:79243
Myopathy With Extrapyramidal Signs
Difficulty walking, Tremor, Ataxia, Dystonia OMIM:615673
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Generalized hypotonia, Gait disturbance, Ataxia, Rigidity OMIM:618239
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Gliosis, Spasticity OMIM:225753
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... OMIM:605259
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Gliosis, Growth delay, Head titubation, Muscular hypotonia of the trunk, Sp... ORPHA:3240
Developmental And Epileptic Encephalopathy 27
Dystonia, Generalized hypotonia, Hypotonia, Spasticity OMIM:616139
Myoclonus-Dystonia Syndrome
Writer's cramp, Dystonia, Torticollis ORPHA:36899
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Difficulty walking, Absent pubertal growth spurt, Spasticity, Cerebral atrophy, Ataxia,... ORPHA:464282
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Generalized hypotonia, Spasticity OMIM:613970
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar vermis hypoplasia, Oculomotor aprax... ORPHA:251347
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Neurodegeneration, Ataxia, A... OMIM:615491
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Hypertonia, Failure to thrive, Infantile muscular hypotonia, Intrauterine gro... ORPHA:26792
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Hypotonia, Head tremor, Difficulty walking, Spastic tetraparesis, Ataxia, Muscular hypo... ORPHA:280219
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Generalized hypotonia, Ataxia OMIM:618224
Combined Oxidative Phosphorylation Deficiency 35
Dystonia, Generalized hypotonia, Cerebral atrophy, Failure to thrive, Spasticity OMIM:617873
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Torticollis, Small for gestational age, Cerebellar vermis atrophy, Limb dystonia, Hypotonia OMIM:619054
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
3-Methylglutaconic Aciduria, Type Viii
Tremor, Dystonia, Generalized hypotonia, Hypertonia, Growth delay, Cerebral atrophy OMIM:617248
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia OMIM:128200
Dystonia With Ringbinden
Gait disturbance, Dystonia OMIM:224550
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Sensory ataxia, Gait ataxia, Cerebral atrophy, Atrophy of the spinal cord, Cerebellar atrophy, Ba... ORPHA:445062
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Dystonia, Generalized hypotonia, Hypotonia, Ataxia, Spasticity OMIM:614458
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Abnormal posturing, Gait disturbance, Resting tremor, Bradykinesia, Infant... ORPHA:225147
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
16P11.2P12.2 Microduplication Syndrome
Dystonia, Attention deficit hyperactivity disorder ORPHA:261204
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Positive Romberg sign, Vestibular areflexia, Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614575
Gaucher Disease, Perinatal Lethal
Akinesia, Decreased body weight, Hypokinesia, Opisthotonus, Intrauterine growth retardation OMIM:608013
Combined Oxidative Phosphorylation Deficiency 6
Hypokinesia, Generalized hypotonia, Hypotonia OMIM:300816
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Dystonia, Generalized hypotonia, Hypotonia OMIM:616277
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Generalized hypotonia, Gliosis, Ataxia, Failure to thrive, Hypotonia OMIM:220111
Spinocerebellar Ataxia Type 11
Difficulty walking, Progressive cerebellar ataxia, Dystonia, Gait imbalance ORPHA:98767
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Abnormal upper motor neuron morphology, Cerebellar ... OMIM:215470
Episodic Ataxia Type 6
Hemiplegia, Cerebellar atrophy, Slurred speech, Ataxia ORPHA:209967
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Ce... OMIM:614487
Filippi Syndrome
Dystonia, Decreased body weight, Postnatal growth retardation, Cerebellar atrophy, Intrauterine g... OMIM:272440
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Abnormal pyramidal sign, Cerebral dysmyelinat... ORPHA:101070
Cln5 Disease
Atrophy/Degeneration affecting the central nervous system, Dysdiadochokinesis, Inability to walk,... ORPHA:228360
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Gait disturbance, Cerebral atrophy, Caudate atrophy, Spasticity OMIM:221770
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Generalized hypotonia, Hypertonia, Cerebral atrophy, Cerebellar atrophy, Intrauterine g... OMIM:614654
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Mitochondrial Complex I Deficiency, Nuclear Type 23
Dystonia, Generalized hypotonia OMIM:618244
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Hypoplasia of the corpus callosum, ... ORPHA:93952
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Ataxia, Cerebral cortical atrophy, Delayed puberty, Cerebellar atrophy... OMIM:607694
Dystonia 16
Postural tremor, Gait disturbance, Bradykinesia, Laryngeal dystonia, Limb dystonia, Retrocollis OMIM:612067
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Episodic ataxia, Generalized hypotonia, Cerebral atrophy, Small for gestation... OMIM:312170
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Limb dystonia, Ha... ORPHA:420485
Developmental And Epileptic Encephalopathy 44
Dystonia, Generalized hypotonia, Cerebral atrophy, Cerebellar atrophy, Failure to thrive, Short s... OMIM:617132
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Generalized hypotonia, Gait disturbance, Hypertonia, Spasti... ORPHA:352649
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Abnormal ... OMIM:302800
Leukodystrophy, Hypomyelinating, 21
Dystonia, Corpus callosum atrophy, Growth delay, Ataxia, Cerebellar atrophy, Failure to thrive, A... OMIM:619310
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Generalized hypotonia, Cerebral atrophy, Ataxia, Cerebellar atrophy OMIM:617804
Spastic Paraplegia 47, Autosomal Recessive
Inability to walk, Spastic paraplegia, Dystonia, Neonatal hypotonia, Waddling gait, Short stature... OMIM:614066
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Cerebellar atrophy, Lower ... OMIM:604391
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Hypertonia, Muscular hypotonia of the trunk, Rigidity, Neuronal loss in central nervous ... OMIM:614498
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Generalized hypotonia, Ataxia, Brain atrophy, Cerebellar atrophy, Failure to ... OMIM:618226
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Difficulty walking, H... ORPHA:137898
Spastic Paraplegia 7, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Dysdiadochokinesis, Spastic paraplegia, Gait at... OMIM:607259
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Akinesia OMIM:253290
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypop... ORPHA:300573
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Generalized hypotonia, Cerebellar atrophy, Dysm... OMIM:617988
Combined Oxidative Phosphorylation Deficiency 50
Intrauterine growth retardation, Generalized dystonia, Short stature OMIM:619025
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Generalized hypotonia, Spasticity, Small for gestational age, Failure to thrive, Hypotonia OMIM:614702
Alternating Hemiplegia Of Childhood 2
Dystonia, Ataxia OMIM:614820
Autosomal Recessive Spastic Paraplegia Type 78
Dystonia, Abnormal periventricular white matter morphology, Progressive extrapyramidal movement d... ORPHA:513436
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Dystonia, Truncal ataxia, Gait ataxia, Hypotonia, Hypertonia, Cerebral... OMIM:618877
Congenital Disorder Of Glycosylation, Type Iii
Truncal ataxia, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainste... OMIM:613612
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Gliosis, Cerebral atrophy, Neurodegeneration, Ataxia OMIM:618321
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Cerebral atrophy, Ataxia, Cerebellar atrophy, Myoclonus, Microcephaly, Spasticity OMIM:618426
Caribbean Parkinsonism
Dystonia, Progressive gait ataxia, Action tremor, Bradykinesia, Cerebral cortical atrophy, Rigidity ORPHA:97355
Machado-Joseph Disease
Dystonia, Truncal ataxia, Gliosis, Limb ataxia, Ataxia, Bradykinesia, Progressive cerebellar atax... OMIM:109150
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Gait disturbance, Blepharospasm, Laryngeal dystonia, Torticollis, Upper limb ... ORPHA:98805
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Absent pubertal growth spurt, Neurodegeneration, Cerebellar atrophy, Short stature ORPHA:438134
Developmental And Epileptic Encephalopathy 1
Dystonia, Global brain atrophy, Hypertonia, Spastic tetraparesis, Growth delay, Muscular hypotoni... OMIM:308350
Arthrogryposis Multiplex Congenita 5
Dystonia, Generalized hypotonia, Akinesia, Growth delay, Hypertonia, Intrauterine growth retardat... OMIM:618947
Progressive Myoclonic Epilepsy With Dystonia
Dystonia, Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Generalized neonatal hypotonia ORPHA:352596
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Kaya-Barakat-Masson Syndrome
Generalized hypotonia, Cerebral atrophy, Muscular hypotonia of the trunk, Cerebellar atrophy, Spa... OMIM:619125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Chromosome 18P Deletion Syndrome
Dystonia, Small for gestational age, Short stature OMIM:146390
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... ORPHA:284289
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Cerebral atrophy, Cerebellar atrophy, Stereotyp... OMIM:618917
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Resting tremor, Muscular hypotonia of the trunk, Limb hypertonia ORPHA:324588
Baralle-Macken Syndrome
Inability to walk, Dystonia, Global brain atrophy, Neonatal hypotonia, Obesity, Spasticity OMIM:619255
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Cerebellar atrophy ORPHA:276183
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Hypertonia, Bradykinesia, Generalized dystonia, Limb dystonia, Rigidity OMIM:618824
Dystonia 12
Unsteady gait, Dystonia, Bradykinesia, Torticollis OMIM:128235
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dystonia, Gait ataxia, Truncal ataxia, Episodic ataxia, Episodic generalized hypotonia, Dysmetria OMIM:601338
Severe X-Linked Mitochondrial Encephalomyopathy
Hypokinesia, Generalized hypotonia, Severe muscular hypotonia ORPHA:238329
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Spasticity, Ataxia, Bradykinesi... ORPHA:98760
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atroph... OMIM:608768
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Progressive gait ataxia, Ataxia, Delayed puberty, Cerebella... ORPHA:289494
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Dystonia, Muscular hypotonia of the trunk, Spasticity OMIM:617669
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Cerebellar hypoplasia, Oculomotor apraxia, Ata... ORPHA:313772
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Generalized hypotonia, Ataxia, Athetosis, Hypotonia OMIM:615159
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Cerebellar atrophy, Titubation, Dysmetria ORPHA:98771
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Difficulty walking, Blepharospasm, Resting tremor, Bradykinesia, Progressive ex... ORPHA:53351
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Gait disturbance, Bradykinesia, Athetosis, ... OMIM:213600
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Chorea, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Opi... OMIM:612389
Parkinson Disease, Late-Onset
Tremor, Dystonia, Resting tremor, Bradykinesia, Short stepped shuffling gait, Substantia nigra gl... OMIM:168600
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Rigidity, Torticollis ORPHA:98810
Developmental And Epileptic Encephalopathy 29
Dystonia, Generalized hypotonia, Hypotonia, Cerebral atrophy, Blepharospasm, Failure to thrive, S... OMIM:616339
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Cerebellar atrophy, Myoclonus, Intention tremor OMIM:254900
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Dystonia, Gait ataxia, Hypotonia, Neonatal hypoto... ORPHA:3095
Familial Paroxysmal Ataxia
Hemiplegia, Dystonia, Ataxia, Torticollis, Cerebellar vermis atrophy ORPHA:97
Cerebrooculofacioskeletal Syndrome 1
Generalized hypotonia, Gliosis, Failure to thrive, Hypotonia OMIM:214150
Gm2-Gangliosidosis, Ab Variant
Dystonia, Generalized hypotonia, Hypertonia, Spastic tetraparesis, Cerebral atrophy, Neurodegener... OMIM:272750
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Gliosis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:105550
Episodic Kinesigenic Dyskinesia 2
Dystonia OMIM:611031
Hsd10 Disease
Tremor, Spastic paraparesis, Gait disturbance, Postnatal growth retardation, Ataxia, Frontotempor... ORPHA:391417
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Gliosis, Neuronal loss in central nervous system OMIM:604218
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Muscular hypotonia of the trunk, Limb tremor, Exaggerated startle respon... OMIM:608643
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Generalized hypotonia, Gait disturbance, Bradykine... ORPHA:98755
Progressive Myoclonic Epilepsy Type 3
Aplasia/Hypoplasia of the corpus callosum, Cerebral atrophy, Chin myoclonus, Progressive cerebell... ORPHA:263516
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Truncal ataxia, Tremor, Gait ataxia, Limb ataxia, Oculomotor apraxia, ... OMIM:208920
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Gliosis, Abnormal astrocyte morphology, Spasticity ORPHA:168486
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hypokinesia, Bradykinesia OMIM:619063
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis, Torsion dystonia OMIM:224500
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia ORPHA:1171
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Generalized hypotonia, Abnormal posturing, Growth delay, Cerebral atrophy, Hypotonia OMIM:614857
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Difficulty walking, Lower limb hypertonia, Ataxia, Infantile axial hypotonia, Lower lim... ORPHA:438114
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Rigidity OMIM:606324
Aicardi-Goutieres Syndrome 3
Dystonia, Generalized hypotonia, Hypotonia, Spasticity OMIM:610329
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Paroxysmal lethargy, Spasticity OMIM:606777
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Progressive gait ataxia, Atrophy of the spinal cord, Spastic gait, Progressive i... ORPHA:447757
Spinocerebellar Ataxia 36
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Hypertonia, Ataxia, Cerebellar atrophy,... OMIM:614153
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Limb hypertonia, Resting tremor, Muscular hypotonia of the trunk OMIM:606703
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Intention tremor, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Babinski sign... OMIM:612674
Pontocerebellar Hypoplasia, Type 2C
Dystonia OMIM:612390
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Progressive cerebellar ataxia, Gliosis, Global ... ORPHA:275872
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hypotonia ORPHA:139406
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Spinocerebellar Ataxia 6
Progressive cerebellar ataxia, Cerebellar atrophy, Abnormal vestibulo-ocular reflex OMIM:183086
L-2-Hydroxyglutaric Aciduria
Corpus callosum atrophy, Gliosis, Global brain atrophy, Spastic tetraparesis, Cerebellar atrophy OMIM:236792
Ataxia-Pancytopenia Syndrome
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait... ORPHA:2585
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Tremor, Dystonia, Generalized hypotonia, Spastic diplegia, Postnatal growth retardation, Obesity ORPHA:480907
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Oculomotor apraxia, Ataxia, Dilated fourt... ORPHA:370022
Alternating Hemiplegia Of Childhood 1
Dystonia OMIM:104290
Combined Oxidative Phosphorylation Deficiency 24
Generalized hypotonia, Gliosis, Neurodegeneration, Spasticity, Cerebellar atrophy, Neuronal loss ... OMIM:616239
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Dystonia, Generalized hypotonia, Spasticity, Brain atrophy, Cerebellar atrophy... OMIM:614739
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Diffuse cerebellar atrophy, Progressive gait ataxia, Limb ataxia, Abnormal pyrami... ORPHA:247815
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Global brain atrop... ORPHA:52368
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Torsion dystonia, Ataxia, Dystonia ORPHA:98811
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Muscular hypotonia of the trunk OMIM:618760
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Dystonia, Muscular hypotonia of the trunk, Oculogyric crisis, Shuffling gait OMIM:618049
Dystonia 24
Head tremor, Torticollis, Blepharospasm, Oromandibular dystonia OMIM:615034
Episodic Ataxia, Type 9
Dystonia, Episodic ataxia OMIM:618924
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, Hypotonia, Cerebral atrophy, Hyperactivity, Spasticity ORPHA:88616
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Lethargy, Dystonia, Limb hypertonia, Severe muscular hypotonia, Rigidity OMIM:233910
Partington Syndrome
Lower limb spasticity, Focal dystonia, Limb dystonia OMIM:309510
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia, Cerebral atrophy, Cerebellar atrophy, Failure to thrive OMIM:300475
Alg11-Cdg
Hypertonia, Cerebral atrophy, Ataxia, Muscular hypotonia of the trunk, Hypokinesia, Opisthotonus,... ORPHA:280071
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Brown-Vialetto-Van Laere Syndrome 2
Hypokinesia, Generalized hypotonia, Ataxia, Hypotonia OMIM:614707
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Generalized hypotonia, Spastic tetraplegia, Failure to thrive, Intrauterine growth reta... OMIM:618237
German Syndrome
Hypokinesia, Neonatal hypotonia OMIM:231080
Baker-Gordon Syndrome
Inability to walk, Neonatal hypotonia, Dystonia, Ataxia OMIM:618218
3-Methylglutaconic Aciduria, Type I
Dystonia, Cerebral atrophy, Ataxia, Spastic tetraplegia, Failure to thrive, Athetosis, Spasticity OMIM:250950
Foxg1 Syndrome
Inability to walk, Dystonia, Hypotonia, Difficulty walking, Decreased body weight, Short stature,... ORPHA:561854
Developmental And Epileptic Encephalopathy 86
Dystonia, Generalized hypotonia, Small for gestational age OMIM:618910
Hereditary Methemoglobinemia
Temporal cortical atrophy, Frontal cortical atrophy, Global brain atrophy, Hypertonia, Cerebellar... ORPHA:621
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Blepharospasm, Bradykinesia, Unsteady gait, Falls, Foca... ORPHA:99750
Aicardi-Goutieres Syndrome 7
Dystonia, Generalized hypotonia, Spastic tetraparesis, Cerebral atrophy, Muscular hypotonia of th... OMIM:615846
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Gliosis, Cerebral cortical atrophy OMIM:277470
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Progressive cerebellar ataxia, Cerebellar atroph... ORPHA:98761
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Cachexia, N... ORPHA:85278
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Generalized hypotonia, Ataxia, Hypotonia OMIM:246900
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Generalized hypotonia, Ataxia, Dysmetria, Hypotonia OMIM:250620
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Cerebral atrophy, Ataxia, Limb dystonia, Hyperactivity, Caudate atrophy, Neu... ORPHA:363400
Pelizaeus-Merzbacher Disease
Dystonia, Hypotonia, Gait disturbance, Ataxia, Failure to thrive in infancy, Cerebral cortical at... ORPHA:702
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Dystonia, Generalized hypotonia, Difficulty walking, Cerebral atrophy OMIM:611890
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Muscular hypotonia of the trunk, Dystonia, Falls, Ataxia OMIM:619150
Parkinsonism-Dystonia, Infantile, 1
Tremor, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Limb dystonia, Rigidity OMIM:613135