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Gene: Inpp4a MGI:1931123

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Abnormal po... OMIM:619565
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia, Sl... OMIM:128101
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... ORPHA:329466
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... ORPHA:171622
Dystonia 30
Torticollis, Diffuse cerebral atrophy, Writer's cramp, Oromandibular dystonia, Leg dystonia, Arm ... OMIM:619291
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... ORPHA:101010
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Short stature, Cogwheel rigidity, Growth delay, Hypertonia, Dystonia, Decreased body weight, Spas... OMIM:618284
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia OMIM:619681
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... OMIM:619742
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Rigidity, Inability to walk, Gait ataxia, Shuffling gait, Brain atrophy... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Short stature, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Gli... OMIM:213200
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia OMIM:611694
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Akinesia, Tremor, Rigidity, Cerebral atrophy, Neurodegeneration, Dystonia, Sp... OMIM:300894
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Cerebral cortical atrophy, Craniofacial dystonia ORPHA:370103
Spastic Paraplegia 32, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, A... OMIM:611252
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cerebellar agenesis ORPHA:1397
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Head tremor, L... OMIM:614860
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy ORPHA:98773
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... OMIM:600143
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Dystonia 25
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:615073
Parkinson Disease 17
Tremor, Resting tremor, Rigidity, Akinesia OMIM:614203
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, F... ORPHA:240094
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Dystonia 33
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity OMIM:619687
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Tremor, Rigidity, Gait ataxia, Limb dystonia, Hypokinesia OMIM:605407
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Tremor, Rigidity, Cerebral atrophy, Gait disturbance, Dystonia OMIM:600116
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Unsteady gait, Tip-toe gait, Dystonia, Spastic gait ORPHA:320411
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Rigidity, Dystonia, Freezing of gait OMIM:619911
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidit... OMIM:607454
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... OMIM:618369
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Spastic paraplegia, Unsteady gait, Dystonia, Tip-toe gait OMIM:615030
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Gait disturbance, Dystonia, Spasticity OMIM:614561
Corticobasal Syndrome
Dystonia, Akinesia, Tremor, Gait disturbance, Limb dystonia, Progressive extrapyramidal muscular ... ORPHA:454887
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Dystonia 32
Torticollis, Laryngeal dystonia, Brain atrophy, Limb dystonia OMIM:619637
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... OMIM:602629
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor OMIM:618876
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Dystonia OMIM:300857
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... ORPHA:423275
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Tremor, Rigidity, Spastic paraplegia, Hypertonia, Gait disturbance... OMIM:606693
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Unsteady gait, Cerebral atrophy, Gait... ORPHA:98762
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor OMIM:608029
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Retrocollis, Dystonia, Oroman... OMIM:617284
Striatonigral Degeneration, Childhood-Onset
Unsteady gait, Hypotonia, Steppage gait, Hypertonia, Dystonia, Loss of ambulation, Craniofacial d... OMIM:617054
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Rigidity, Limb ataxia, Dy... OMIM:607136
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... ORPHA:276193
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Perry Syndrome
Akinesia, Tremor, Rigidity, Weight loss, Dystonia, Short stepped shuffling gait OMIM:168605
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia OMIM:615705
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degeneration, Astro... OMIM:601104
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia OMIM:614322
Huntington Disease-Like 2
Caudate atrophy, Weight loss, Gait disturbance, Dystonia, Cerebral cortical atrophy ORPHA:98934
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Corpus ... OMIM:619389
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Akinesia, Rigidity, Limb dystonia, Spasticity, Cerebral cortical atrophy OMIM:616840
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity, Failure to thrive... OMIM:618276
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Spastic paraplegia, Gait disturbance, Dystonia OMIM:108600
Congenital Myopathy 9A
Neonatal hypotonia, Short stature, Obesity, Akinesia OMIM:618822
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Hypotonia, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Ga... OMIM:616981
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Short stature, Ataxia, Inability to walk,... OMIM:616756
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Difficulty walking, Dystonia OMIM:619661
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... OMIM:610357
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Gliosis, Global brain ... OMIM:236792
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Dystonia, Spasticity ORPHA:309169
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... OMIM:616230
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... OMIM:616127
Striatonigral Degeneration, Infantile
Choreoathetosis, Spasticity, Failure to thrive, Dystonia OMIM:271930
Huntington Disease
Cerebellar atrophy, Rigidity, Gait ataxia, Gliosis, Neuronal loss in central nervous system OMIM:143100
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Gait disturbance, Degeneration of the striatum, Hypokinesia OMIM:609161
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Akinesia, Rigidity, Gait ataxia, Dysdiadochokinesis, Cerebellar cortical ... ORPHA:247234
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Corpus callosum atrophy, Gait disturbance, Shuffling gait, Gliosis, Spasticity, Neurona... OMIM:221820
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Hand tremor, Degeneration of anterior horn cells, Gait disturbance, Gliosis OMIM:604484
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Cerebral atrophy, Growth delay, Generalized hypotonia, Dystonia, Spasticity OMIM:617899
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... OMIM:613728
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Tip-toe gait, Gait disturbance, Neurodegeneration, Spast... OMIM:615643
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia, Progressive ext... ORPHA:240071
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria,... OMIM:617916
Hereditary Late-Onset Parkinson Disease
Resting tremor, Akinesia, Rigidity, Weight loss, Gliosis, Shuffling gait, Dystonia, Cerebral cort... ORPHA:411602
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Gait ataxia, Choreoathet... ORPHA:225154
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia OMIM:619966
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Hypertonia, Gait disturbance, Dystonia ORPHA:306682
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Failure to thrive, Spastic tetraparesis, Dystonia ORPHA:67046
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... OMIM:302500
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... OMIM:618088
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Falls, Gliosis, D... ORPHA:683
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Hypotonia, Obesity, Limb dystonia, Intrauterine growth retardation OMIM:620270
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Akinesia, Choreoathetosis, Truncal at... OMIM:618249
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston... ORPHA:314603
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Axial hypotonia, Short stature, Ataxia, Appendicular hypotonia, Failure to thrive, Hypokinesia OMIM:620007
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia OMIM:620245
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Akinesia, Rigidity, Granulovacuolar degeneration, Falls, Gait im... OMIM:609454
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Hypo... OMIM:617954
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... OMIM:607565
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ... ORPHA:98759
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Axial hypotonia, Short stature, Cerebral atrophy, Athetosis, Dystonia, Spasti... OMIM:617132
Developmental And Epileptic Encephalopathy 14
Hypotonia, Gliosis, Generalized hypotonia, Spasticity, Neuronal loss in central nervous system, C... OMIM:614959
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... ORPHA:512260
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Growth delay, Athetosis, Dystonia, Failure t... OMIM:619310
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Short stature, Ataxia, Inability to walk, Dystonic gait, Hypotonia, Tituba... ORPHA:280210
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Dystonia OMIM:618425
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Developmental And Epileptic Encephalopathy 69
Axial hypotonia, Corpus callosum atrophy, Inability to walk, Spastic tetraplegia, Dystonia, Cereb... OMIM:618285
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Infantile axial hypotonia, Tremor, Scissor gait, Oromandibular dystonia, Cere... ORPHA:521406
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Akinesia, Diminished movement, Rigidity, Cogwheel rigidity, Tr... ORPHA:97349
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Rigidity, Inability to walk, Cerebral atrophy, Neurodegeneration, Dys... OMIM:617672
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Intrauterine growth retardation, Axial hypotonia, Spastic tetraplegia, Dystonia OMIM:251280
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Impair... OMIM:605361
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Cerebral atrophy, Dystonia, Spasticity, Neuronal loss in central nervous system OMIM:615924
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ... ORPHA:453521
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Writer's cramp ORPHA:163727
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis, Torticollis OMIM:118800
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Gait ataxia, Dystonia, Spasticity OMIM:607317
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Postural tremor, Oculogyric crisis, Rigidity, Hypotonia, Focal dyst... ORPHA:101150
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar hypo... OMIM:224050
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Short stature, Small for gestational age, Tremor, Hypotonia, Truncal o... OMIM:300957
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Rigidity, Gait disturbance, Shuffling gait, Gliosis, Dystonia, Loss of ambulation... OMIM:168601
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Spastic tetraplegia, Dystonia OMIM:618646
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Rigidity, Limb ataxia, Gait ataxia, Head tremor, Limb dystonia, Spasticity ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Huntington Disease-Like 1
Cerebellar atrophy, Dysmetria, Gait ataxia, Weight loss, Gait disturbance, Gliosis, Generalized h... ORPHA:157941
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... ORPHA:330050
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... OMIM:618090
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Dystonia, Ataxia, Hypotonia, Gait ataxia, Gait disturbance, Difficulty wal... OMIM:614458
Hemidystonia-Hemiatrophy Syndrome
Rhizomelic leg shortening, Dystonia, Limb dystonia ORPHA:306741
Developmental And Epileptic Encephalopathy 7
Hypotonia, Spastic tetraparesis, Dystonia OMIM:613720
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... OMIM:612319
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Dysmetria,... OMIM:618404
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Weight loss, Tip-toe gait, Gai... ORPHA:216866
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Hypotonia, Dystonia, Spasticity ORPHA:599373
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Small for gestational age, Hypotonia, Choreoathetosis, Limb dystonia, Cerebe... OMIM:619054
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Unsteady gait, Hypotonia, Spastic tetraplegia, Cerebral atrophy, Neur... OMIM:256600
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Dystonia OMIM:619196
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Cerebellar atrophy, Facial hypotonia, Short stature, Overweight, Hypotonia, Spasti... ORPHA:280763
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Axial hypotonia, Generalized dystonia, Dystonia, Tremor, Inability to walk, S... OMIM:617013
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Short stature, Ataxia, Spastic diplegia, Dystonia OMIM:619065
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Gliosis, Intrauterin... OMIM:615095
Primary Dystonia, Dyt21 Type
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... ORPHA:306734
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Hand tremor, Neurodegeneration, Dystonia, Spasticity OMIM:615889
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia, Intrauter... OMIM:618238
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Hypotonia, Dystonia, Spasticity, Cerebral cortical atrophy OMIM:617820
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Akinesia, Hypotonia, Spastic tetraplegia, Growth delay, Hypertonia, Fa... OMIM:619147
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Limb ataxia, Spastic dysarthri... ORPHA:251282
Aceruloplasminemia
Torticollis, Ataxia, Akinesia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Blepharospasm, Dystoni... ORPHA:48818
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Axial hypotonia, Dystonia OMIM:619651
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Difficulty walking, Dystonia, Spasticity OMIM:617829
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Postural tremor, Writer's cramp, Cogwheel rigidity, Gait ataxia, Dys... OMIM:128230
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Hypotonia, Brain atrophy, Dystonia OMIM:620359
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Generalized hypotonia, Dystonia OMIM:616763
Intellectual Developmental Disorder, X-Linked 111
Corpus callosum atrophy, Unsteady gait, Hippocampal atrophy, Dystonia, Spasticity OMIM:301107
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Cerebellar vermis atrophy, Gait ataxia, W... ORPHA:248111
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Gait ataxia, Generalized hypotonia, Limb dystoni... ORPHA:71517
Dystonia 16
Generalized dystonia, Postural tremor, Gait disturbance, Retrocollis, Limb dystonia, Laryngeal dy... OMIM:612067
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Torticollis, Head titubation, Truncal ataxia, Limb ataxia, Hypotonia, Limb dy... OMIM:617560
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Short stature, Ataxia, Writer's cramp, Reduction of oligo... OMIM:312080
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Inability to walk, Athetosis, Dystonia OMIM:615159
Spinocerebellar Ataxia Type 11
Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia ORPHA:98767
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Axial hypotonia, Oculogyric crisis, Hypertonia, Generalized hypotonia, Dystonia... OMIM:617384
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Hypotonia, Cerebral atr... ORPHA:79243
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... OMIM:612020
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Ataxia, Spastic tetraplegia, Infantile muscular hypotonia ORPHA:263410
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
Leigh Syndrome
Ataxia, Hypotonia, Gliosis, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive OMIM:256000
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... ORPHA:98
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Dystonia OMIM:104290
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Cachexia, Tremor, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Cerebral atrophy, Dystonia OMIM:610181
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Ataxia, Rigidity, Dystonia ORPHA:401901
Mepan Syndrome
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Hypotonia, Cerebral atrophy, ... ORPHA:508093
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Difficulty walking, L... ORPHA:99657
Primary Dystonia, Dyt6 Type
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... ORPHA:98806
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Limb ataxia, Upper limb spasticity, Gait disturbance, ... OMIM:618418
Dystonia 16
Torticollis, Unsteady gait, Postural tremor, Limb dystonia ORPHA:210571
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Amyotrophic Lateral Sclerosis 2, Juvenile
Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Short stature, Ataxia... OMIM:205100
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Short stature, Overweight, Inability to walk, Spastic paraplegia, Hypertonia, Dyst... OMIM:614066
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, Shuffling gait,... OMIM:617964
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia OMIM:614249
Mitochondrial Complex I Deficiency, Nuclear Type 23
Growth delay, Hypotonia, Generalized hypotonia, Dystonia OMIM:618244
Dystonia 11, Myoclonic
Tremor, Hypotonia, Torticollis, Writer's cramp OMIM:159900
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Dystonia ORPHA:36899
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Ataxia, Tremor, Rigidity, Generalized hypotonia, Dystonia OMIM:617836
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Lower limb spasticity, Impaired te... OMIM:619686
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Ataxia, Tremor, Growth delay, Choreoathetosis, Dystonia, Spasticity OMIM:612716
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Gait disturbance, Dystonia ORPHA:314632
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Generalized hypotonia, Brain atrophy, Difficulty walking, Cerebral cortical hem... ORPHA:306669
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Short stature, Spastic gait, Spastic tetraparesis OMIM:619052
Alternating Hemiplegia Of Childhood 2
Choreoathetosis, Ataxia, Dystonia OMIM:614820
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... OMIM:610246
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Tremor, Overweight, Hypotonia, Upper limb spasticity, Gait disturbance, Gliosis ORPHA:457240
Dystonia 12
Tremor, Torticollis, Unsteady gait, Dystonia OMIM:128235
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Axial hypotonia, Short stature, Ataxia, Tremor, Rigidity, Hypotonia, Choreoat... OMIM:612438
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Astrocytosis, Gait disturbance, Dystonia, Neuronal loss in central nervous system, Cere... OMIM:600795
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Pill-rolling tremor, Shuffling gait, Dystonia, Loss of ambulation, Spasticity, Limb hyp... OMIM:615528
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra... OMIM:607250
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetrapl... ORPHA:3240
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Spasticity, Dystonia OMIM:304700
Paroxysmal Non-Kinesigenic Dyskinesia
Choreoathetosis, Torticollis, Rigidity, Dystonia ORPHA:98810
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... OMIM:611390
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Torsion dystonia, Choreoathetosis, Dystonia ORPHA:98811
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Writer's cramp, Dystonia ORPHA:98809
Developmental And Epileptic Encephalopathy 17
Inability to walk, Athetosis, Cerebral atrophy, Dystonia OMIM:615473
Leukodystrophy, Hypomyelinating, 25
Growth delay, Dystonia, Hypotonia, Gait ataxia OMIM:620243
Congenital Myopathy 12
Neonatal hypotonia, Small for gestational age, Hypotonia, Akinesia OMIM:612540
Parkinsonism-Dystonia 2, Infantile-Onset
Axial hypotonia, Ataxia, Oculogyric crisis, Tremor, Hypotonia, Dysdiadochokinesis, Shuffling gait... OMIM:618049
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dys... OMIM:183086
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypotonia, Choreoathetosis, Hypertonia, Dystonia OMIM:261630
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... ORPHA:139480
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Cerebral atrophy, Dystonia, Intrauterine growth retardation, Failure to thrive OMIM:300475
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Cerebral atrophy, Generalized hypotonia, D... ORPHA:527497
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Tremor, Rigidity, Choreoathetosis, Blepharospasm, Gait disturbance, Neurodegene... OMIM:234200
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Spinocerebellar Ataxia Type 2
Kinetic tremor, Postural tremor, Cerebellar Purkinje layer atrophy, Gait ataxia, Progressive cere... ORPHA:98756
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Cerebral atrophy, Astrocytosis, Gliosis, Spasticity, Neuronal loss in central nervous system ORPHA:204
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Tremor, Unsteady gait, Cerebral atrophy, Hy... OMIM:617435
Raynaud-Claes Syndrome
Lower limb spasticity, Hypotonia, Cerebral atrophy, Progressive cerebellar ataxia, Generalized hy... OMIM:300114
Parkinsonism-Dystonia 1, Infantile-Onset
Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Cogwheel rigidity, Hypertonia, Li... OMIM:613135
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Severe muscular hypotonia, Hypotonia, Hypokinesia OMIM:618184
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Hypotonia, Gait disturbance, Gliosis, Generalized hypotonia, Spasticity OMIM:603896
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Temporal cortical atrophy, At... ORPHA:621
Huntington Disease
Caudate atrophy, Rigidity, Inability to walk, Cerebral atrophy, Weight loss, Gait disturbance, Ga... ORPHA:399
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
3-Methylglutaconic Aciduria, Type I
Ataxia, Spastic tetraplegia, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Failure to thrive OMIM:250950
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Severe short stature, Ataxia, Cerebral atrophy, Athetosis, Dystonia, Loss of ... OMIM:617951
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia OMIM:260300
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Axial hypotonia, Dystonia OMIM:619647
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Axial hypotonia, Short stature, Absent pubertal growth spur... ORPHA:464282
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Spastic tetraplegia, Generalized hypotonia, Dystonia, Intrauterine growth ret... OMIM:618237
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Infantile Dystonia-Parkinsonism
Axial hypotonia, Oculogyric crisis, Hypertonia, Dystonia, Hypokinesia, Limb hypertonia ORPHA:238455
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Unsteady gait... ORPHA:79263
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Axial hypotonia, Dystonia OMIM:618760
Mitochondrial Complex I Deficiency, Nuclear Type 17
Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dystonia OMIM:618239
Spastic Paraplegia 26, Autosomal Recessive
Lower limb spasticity, Ataxia, Spastic paraplegia, Dysmetria, Tip-toe gait, Upper limb spasticity... OMIM:609195
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Spastic tetraplegia, Hypotonia, Athetosis, Dystonia, Intrauterine growth reta... OMIM:619922
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Cachexia,... ORPHA:300605
Baralle-Macken Syndrome
Inability to walk, Obesity, Dystonia, Neonatal hypotonia, Spasticity, Global brain atrophy OMIM:619255
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Ataxia, Dystonia ORPHA:1171
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Hypotonia, Progressive cerebellar ataxia, Dystonia ORPHA:139485
Pelizaeus-Merzbacher Disease, Classic Form
Axial hypotonia, Ataxia, Dystonia, Spastic tetraparesis, Dystonic gait, Hypotonia, Titubation, At... ORPHA:280219
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Dystonia, Loss of ambulation, Intrauterine growth retardation OMIM:615010
Combined Oxidative Phosphorylation Deficiency 1
Axial hypotonia, Hypertonia, Global brain atrophy, Intrauterine growth retardation, Spasticity, H... OMIM:609060
Progressive Supranuclear Palsy-Corticobasal Syndrome
Diminished movement, Rigidity, Tremor, Focal dystonia, Progressive extrapyramidal muscular rigidity ORPHA:240103
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Small for gestational age, Spastic tetraplegia, Hypotonia, Opisthotonus, Cerebral ... OMIM:619847
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Rigidity, Focal dystonia, Gait disturbance, Limb dystonia, Oromandibular dystonia, Spasti... ORPHA:216873
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Cerebral atrophy, Prog... ORPHA:309246
Dystonia 9
Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia OMIM:601042
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Ataxia, Hypotonia, Spastic tetraplegia, Gliosis, Neonatal hypotonia, Limb hyp... OMIM:612936
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Developmental And Epileptic Encephalopathy 71
Gliosis, Hypotonia OMIM:618328
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:612126
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Ataxia, Short stature, Postural tremor, Tremor, Dysmetria, Delayed ... OMIM:607694
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Hypotonia, Cerebral atrophy, Dystonia OMIM:615338
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Hypokinesia, Akinesia ORPHA:994
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Tremor, Rigidity, Choreoathetosis, Blepharospasm, Neurodegeneration, Dyst... OMIM:606159
Pontocerebellar Hypoplasia, Type 4
Spasticity, Hypertonia, Gliosis OMIM:225753
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... OMIM:215470
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic paraparesis, Apraxia, Olivop... OMIM:615157
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Growth delay, Hypertonia, Dystonia, Global brain atrophy, Act... OMIM:619738
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Failure to thrive OMIM:250620
Gaucher Disease, Perinatal Lethal
Akinesia, Opisthotonus, Decreased body weight, Intrauterine growth retardation, Hypokinesia OMIM:608013
Huntington Disease-Like 2
Rigidity, Weight loss, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Hypotonia, C... OMIM:614254
Mitochondrial Myopathy With Lactic Acidosis
Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity OMIM:251950
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... OMIM:614487
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper limb hypertonia, Dystonia OMIM:614898
Brain Dopamine-Serotonin Vesicular Transport Disease
Axial hypotonia, Ataxia, Oculogyric crisis, Spastic tetraparesis, Dystonia, Tremor, Dysdiadochoki... ORPHA:352649
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia OMIM:618141
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Sensory ataxia, ... ORPHA:445062
Leukodystrophy, Hypomyelinating, 2
Axial hypotonia, Ataxia, Dystonia, Head titubation, Rigidity, Cerebral atrophy, Choreoathetosis, ... OMIM:608804
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Infantile axial hypotonia, Gait ataxia, Titubation, Gait disturbance, I... ORPHA:225147
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... OMIM:615491
Machado-Joseph Disease
Cerebellar atrophy, Dystonia, Ataxia, Rigidity, Limb ataxia, Progressive cerebellar ataxia, Glios... OMIM:109150
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Spasticity, Ataxia, Dystonia OMIM:612951
Basal Ganglia Calcification, Idiopathic, 1
Tremor, Rigidity, Athetosis, Dysdiadochokinesis, Gait disturbance, Dystonia, Limb dysmetria OMIM:213600
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Axial hypotonia, Ataxia, Dystonia OMIM:619150
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Generalized hypotonia, Dystonia OMIM:618224
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Muscular Hypertonia, Lethal
Hypertonia, Hypokinesia OMIM:254120
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... OMIM:603516
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia OMIM:618924
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Ataxia, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Hypertonia... OMIM:261640
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia ORPHA:53583
Foxg1 Syndrome
Short stature, Inability to walk, Hypotonia, Choreoathetosis, Severe postnatal growth retardation... ORPHA:561854
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Hand tremor OMIM:608105
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Cerebral atrophy, Gait disturbance, Gliosis, Spasticity OMIM:221770
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Progressive cerebellar ataxia ORPHA:276183
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Basal gan... OMIM:604377
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Axial hypotonia, Spastic tetraplegia, Cerebral atrophy, Generalized hypotonia... OMIM:619125
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Athetosis, Ge... OMIM:617493
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Generalized neonatal hypotonia, Dystonia ORPHA:352596
Allan-Herndon-Dudley Syndrome
Axial hypotonia, Short stature, Ataxia, Small for gestational age, Failure to thrive in infancy, ... ORPHA:59
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Rigidity, Limb ataxia, Hypertonia, Limb dystonia OMIM:618824
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Dy... ORPHA:70594
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Hypotonia, Falls, Generalized hypotonia, Dystonia, Spasticity OMIM:619224
Combined Oxidative Phosphorylation Deficiency 50
Intrauterine growth retardation, Generalized dystonia, Short stature OMIM:619025
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Growth delay, Generalized hypotonia, Dyst... OMIM:618226
Arthrogryposis Multiplex Congenita 5
Akinesia, Hand tremor, Growth delay, Hypertonia, Generalized hypotonia, Dystonia, Intrauterine gr... OMIM:618947
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Cerebellar vermis atrophy, Dystonia ORPHA:97
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Hypotonia, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:618497
Developmental And Epileptic Encephalopathy 53
Hypotonia, Spastic tetraplegia, Dystonia OMIM:617389
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy OMIM:604218
Huntington Disease-Like 3
Caudate atrophy, Ataxia, Unsteady gait, Frontal cortical atrophy, Dystonia, Spasticity OMIM:604802
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Small for gestational age, Hypoton... OMIM:214150
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... ORPHA:98760
Combined Oxidative Phosphorylation Deficiency 6
Hypotonia, Hypokinesia OMIM:300816
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Inability to walk, Hypotonia, Generalized hypotonia, Dystonia, Brain atrophy,... OMIM:614739
Spinocerebellar Ataxia 2
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Combined Oxidative Phosphorylation Deficiency 13
Axial hypotonia, Severe muscular hypotonia, Growth delay, Choreoathetosis, Dystonia OMIM:614932
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Inability to walk, Opisthotonus, Cho... OMIM:619653
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Brain atrophy, Dysmetria, Dystonia OMIM:618317
Pelizaeus-Merzbacher Disease
Short stature, Ataxia, Cachexia, Failure to thrive in infancy, Hypotonia, Choreoathetosis, Gait d... ORPHA:702
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized hypotonia, Severe muscular hypotonia, Hypokinesia ORPHA:238329
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Pontocerebellar at... OMIM:617854
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis, Hypotonia OMIM:615119
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, ... ORPHA:98805
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
Glut1 Deficiency Syndrome 1
Choreoathetosis, Paroxysmal dystonia, Spasticity, Ataxia OMIM:606777
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Falls, Rigidity, Dystonia ORPHA:240085
Spinocerebellar Ataxia, Autosomal Recessive 31
Axial hypotonia, Ataxia, Tremor, Cerebral atrophy, Growth delay, Choreoathetosis, Dystonia OMIM:619422
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hypertonia, Dystonia, Intrauterine growth retardation, Failure to thrive, Infantile muscular hypo... ORPHA:26792
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Inability to walk, Tremor, Rigidity, Hypotonia, Cerebral atrophy, Gait... OMIM:618877
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Head tremor, Dystonia OMIM:619724
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity ORPHA:542310
4H Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Short stature, Tremor, Dysmetria, Progressive gait ataxia, ... ORPHA:289494
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Gait ataxia, Neurodegeneration ORPHA:438134
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Akinesia OMIM:253290
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis, Dystonia, Neonatal... OMIM:245348
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Short stature, Ataxia, Dystonia OMIM:230650
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy OMIM:105550
Encephalopathy Due To Prosaposin Deficiency
Hypotonia, Dystonia ORPHA:139406
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia OMIM:314250
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Dystonia, Neonatal hypotonia OMIM:618218
Combined Oxidative Phosphorylation Deficiency 35
Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive OMIM:617873
Congenital Disorder Of Glycosylation, Type Iii
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia OMIM:613612
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Gait disturbance, Brain atrophy, Dystonia, Loss of ambulation, Frontal... OMIM:167320
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Axial hypotonia, Ataxia, Spastic tetraplegia, Cerebral atrophy, Gait ataxia... OMIM:618321
Developmental And Epileptic Encephalopathy 1
Axial hypotonia, Spastic tetraparesis, Growth delay, Choreoathetosis, Hypertonia, Dystonia, Globa... OMIM:308350
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Gait ataxia, Dystonia, Spasticity OMIM:618917
Episodic Kinesigenic Dyskinesia 2
Dystonia OMIM:611031
Atypical Rett Syndrome
Neonatal hypotonia, Tremor, Inability to walk, Hypotonia, Gait ataxia, Growth delay, Pill-rolling... ORPHA:3095
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls OMIM:615217
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Atrophy/Degeneration affecting the brainstem, Hypotonia, Brain atrophy, Generalized hyp... OMIM:616277
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Akinesia OMIM:225790
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Tremor, Rigidity, Cerebral atrophy, Dystonia, Spastic paraparesis ORPHA:329284
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Axial hypotonia, Ataxia, Dysmetria, Cerebral atrophy, Dystonia, Intention ... OMIM:616140
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Hypotonia, Dystonia OMIM:619157
16P11.2P12.2 Microduplication Syndrome
Dystonia ORPHA:261204
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Generalized hypo... OMIM:312170
Aicardi-Goutieres Syndrome 3
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:610329
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Ataxia, Tremor, Spastic tetraplegi... OMIM:617710
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Diminished movemen... OMIM:608643
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Unsteady gait, Spastic paraplegia, Spastic tetraplegia, Dystonia, Neonatal hypotonia OMIM:245349
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Axonal degeneration, Limb ataxia, Gait ataxia, Trun... OMIM:208920
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Dysmetria, Lower limb hypertonia, Diffic... ORPHA:438114
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Cerebral atrophy, Gait ataxia, Dystonia, Spasticity, Infantile muscular hypoto... ORPHA:500180
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Generalized hypotonia, Dystonia, Li... OMIM:233910
Pontocerebellar Hypoplasia, Type 2C
Dystonia OMIM:612390
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Broad-based gait, Hypertonia, Gait disturbance, Arm dystonia, Difficulty wal... ORPHA:79244
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Gait disturbance, Cerebral cortical atrophy, Dystonia ORPHA:101006
Pontocerebellar Hypoplasia, Type 14
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619301
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Abnormal pyramidal sign, Tetr... OMIM:616267
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Spasticity, Gliosis, Abnormal astrocyte morphology ORPHA:168486
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Spastic ... ORPHA:313772
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Christianson Syndrome
Cerebellar atrophy, Cachexia, Truncal ataxia, Gait ataxia, Dystonia, Neuronal loss in central ner... ORPHA:85278
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia OMIM:602124
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Resting tremor, Dystonia OMIM:605909
Infantile Convulsions And Choreoathetosis
Choreoathetosis, Athetosis, Dystonia ORPHA:31709
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Choreoathetosis, Hypertonia, Dystonia, Spasticity ORPHA:71277
Developmental And Epileptic Encephalopathy 27
Spasticity, Axial hypotonia, Hypotonia, Dystonia OMIM:616139
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Tremor, Rigidity, Dystonia, Neuronal loss in central ne... OMIM:168600
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Ataxia, Hypotonia, Cerebral atrophy, Choreoathetosis, Dystonia, Intrauterine ... OMIM:616034
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Frontotemporal cerebral atrop... ORPHA:79097
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hypotonia, Dystonia, Int... OMIM:614654
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Gliosis, Global brain atrophy, Degeneration of the lateral cortico... ORPHA:275872
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Atrophy of the spinal cord, Hypotonia, Focal dystonia, Spastic dysarthria, Progr... ORPHA:447757
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign... OMIM:614575
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Difficulty walking, Dystonia OMIM:616684
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Axial hypotonia, Ataxia, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia OMIM:615905
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Ataxia, Hypotonia, Dystonia ORPHA:382
Dpagt1-Cdg
Ataxia, Akinesia, Tremor, Inability to walk, Hypertonia, Infantile muscular hypotonia, Infantile ... ORPHA:86309
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Caudate atrophy, Progressive gait ataxia, Dys... ORPHA:157946
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Inability to walk, Cerebral atrophy, Generalized hypotonia, Difficulty walking OMIM:611890
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Short stature, Tremor, Dysmetria, Gait ataxia, Growth delay, Dysdiado... OMIM:614381
Developmental And Epileptic Encephalopathy 86
Small for gestational age, Generalized hypotonia, Dystonia OMIM:618910
Dystonia 28
Torticollis, Generalized dystonia, Short stature, Leg dystonia, Arm dystonia, Oromandibular dystonia ORPHA:589618
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Short stature, Inability to walk, Hypotonia, Cerebral atrophy, Gait imbalance... OMIM:619641
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Ataxia, Hypotonia, Dystonia OMIM:620094
Partington Syndrome
Lower limb spasticity, Gait disturbance, Limb dystonia ORPHA:94083
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Axial hypotonia, Rigidity, Hypertonia, Gliosis, Neuronal loss in central nervous system, Limb hyp... OMIM:614498
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Hypotonia, Choreoathetosis, Dystonia, Limb hypertonia OMIM:606703
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dystonia, Ataxia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait ataxia, Arm dystonia... OMIM:601338
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Pontocerebellar Hypoplasia, Type 2A
Dystonia, Gliosis, Cerebral cortical atrophy, Opisthotonus OMIM:277470
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Partington Syndrome
Limb dystonia, Lower limb spasticity, Focal dystonia OMIM:309510
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Dystonia ORPHA:254881
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetria,... ORPHA:845
Fetal Akinesia Syndrome, X-Linked
Hypokinesia OMIM:300073
Alg11-Cdg
Axial hypotonia, Ataxia, Cerebral atrophy, Opisthotonus, Hypertonia, Infantile muscular hypotonia... ORPHA:280071
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Atrophy/Degeneration affecting the brainstem, Dysmetria, Pro... ORPHA:98755
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Cerebral atrophy, Infantile muscular hypotonia ORPHA:457205
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... OMIM:193003
Pontocerebellar Hypoplasia, Type 15
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619302
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Dystonia, Limb hypertonia OMIM:618247
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Loss of ability to walk in early childhood, Short stature, Small for gestational age, Inability t... OMIM:612073
Leukoencephalopathy With Dystonia And Motor Neuropathy
Intention tremor, Torticollis, Head tremor, Dystonia OMIM:613724
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Torticollis, Spastic tetraplegia, Hypertonia, Dystonia OMIM:619071
Leber Optic Atrophy And Dystonia
Athetosis, Spasticity, Dystonia OMIM:500001
Developmental And Epileptic Encephalopathy 29
Axial hypotonia, Short stature, Cerebral atrophy, Blepharospasm, Limb dystonia, Intrauterine grow... OMIM:616339
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Hypotonia, Neurodegeneration, Gliosis, Generalized hypotonia, Spasticity, Neu... OMIM:616239
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Hypotonia, Cerebral atrophy, Growth delay, Gliosis,... OMIM:614946
Filippi Syndrome
Cerebellar atrophy, Dystonia, Postnatal growth retardation, Decreased body weight, Intrauterine g... OMIM:272440
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Hypotonia, Growth delay, Generalized hypotonia, Truncal ataxia, Failure to thrive, Inte... OMIM:614407
Sulfite Oxidase Deficiency, Isolated
Axial hypotonia, Ataxia, Generalized dystonia, Cerebral atrophy, Choreoathetosis, Hypertonia, Gen... OMIM:272300
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity ORPHA:88619
Harel-Yoon Syndrome
Cerebellar atrophy, Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity OMIM:617183
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, H... OMIM:617193
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Corpus callosum atrophy, Spasticity, Ataxia, Gliosis OMIM:169500
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Upper limb hypertonia, Limb dystonia ORPHA:319199
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular... ORPHA:420485
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Rigidity, Hypotonia, Blepharospasm, Athetosis, Gait disturbance, Dystonia, Loss of ambula... OMIM:617282
X-Linked Dystonia-Parkinsonism
Resting tremor, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Shuffling gait, Dif... ORPHA:53351
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Axial hypotonia, Ataxia, Facial hypotonia, Tremor, Spastic paraplegia, Spastic te... OMIM:300055
Autosomal Recessive Spastic Paraplegia Type 78
Cerebellar atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Progressive spastic q... ORPHA:513436
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Choreoathetosis, Ataxia, Generalized hypotonia, Dystonia OMIM:618416
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Tremor, Inability to walk, Focal dystonia, Shuffling gait,... ORPHA:52368
Tremor-Ataxia-Central Hypomyelination Syndrome
Dystonia, Ataxia, Short stature, Postural tremor, Dysmetria, Spastic dysarthria, Delayed puberty,... ORPHA:447896
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Generalized hypotonia OMIM:201550
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ataxia, Truncal ataxia, Dystonia, Neonatal hypotonia, Spasticity OMIM:252011
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Truncal titubation, Inability to walk, Rigidity, Opisthotonus, Gait ataxia, Cogw... OMIM:607483
Developmental And Epileptic Encephalopathy 28
Axial hypotonia, Rigidity, Cerebral atrophy, Spasticity, Hypokinesia OMIM:616211
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Hypertonia, Gait disturbance, Dystonia ORPHA:96
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Generalized dystonia, Ataxia, Tremor, Oromandibular dystonia, Gait disturbanc... OMIM:614298
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypotonia, Gliosis, Falls, Difficulty walking, Dystonia OMIM:618222
Combined Oxidative Phosphorylation Deficiency 2
Neonatal hypotonia, Small for gestational age, Hypokinesia OMIM:610498
Dystonia-Deafness Syndrome 1
Generalized dystonia, Small for gestational age, Oculogyric crisis, Leg dystonia, Loss of ambulation OMIM:607371
Pyruvate Dehydrogenase Deficiency
Ataxia, Tremor, Hypotonia, Growth delay, Choreoathetosis, Gait disturbance, Dystonia, Intrauterin... ORPHA:765
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Hypotonia, Cerebral atrophy,... OMIM:272750
Krabbe Disease
Diffuse cerebral atrophy, Axial hypotonia, Hypotonia, Hypertonia, Neurodegeneration, Decerebrate ... OMIM:245200
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Hypotonia, Spastic diplegia, Cerebral atrophy, Ch... ORPHA:391428
Liang-Wang Syndrome
Cerebellar atrophy, Axial hypotonia, Ataxia, Cerebral atrophy, Dystonia OMIM:618729
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Dystonia, Spasticity, Cerebellar vermis at... OMIM:618087
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Postnatal growth retardation, Tremor, Spastic diplegia, Obesity, Generalized hypotonia, Dystonia ORPHA:480907
Ataxia-Oculomotor Apraxia Type 4
Ataxia, Obesity, Dystonia ORPHA:459033
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hypotonia, Cerebral atrophy, Growth delay, Abnormal posturing, Failure to thrive OMIM:614857
Combined Oxidative Phosphorylation Defect Type 13
Axial hypotonia, Choreoathetosis, Lower limb hypertonia, Generalized hypotonia, Limb dystonia, In... ORPHA:319514
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Hypotonia, Dystonia, Failure to t... OMIM:617339
Developmental And Epileptic Encephalopathy 6B
Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Choreoathetosis, Dystonia OMIM:619317
Hemimegalencephaly
Gliosis ORPHA:99802
Peroxisomal Acyl-Coa Oxidase Deficiency
Neonatal hypotonia, Hypertonia, Hypotonia, Dystonia OMIM:264470
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Head titubation, Hypotonia, Truncal ataxia, Dystonia, Failure to thrive ORPHA:88639
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Brown-Vialetto-Van Laere Syndrome 2
Generalized hypotonia, Ataxia, Hypotonia, Hypokinesia OMIM:614707
Rett Syndrome
Short stature, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Dystonia, Spasticity, Cerebra... OMIM:312750
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Cerebral atrophy, Dystonia, Intrauterine growth retardation, Spasticity OMIM:610333
Episodic Ataxia, Type 2
Episodic ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Dystonia OMIM:108500
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Cerebral cortical atrophy OMIM:617668
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Hypotonia, Dystonia OMIM:246900
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Oculogyric crisis, Rigidity, Hypotonia, Opisthotonus, Choreoathetosis, Hypertonia, Falls,... ORPHA:13
Mucolipidosis Iv
Cerebellar atrophy, Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia OMIM:252650
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Axial hypotonia, Postural tremor, Short stature, Ataxia, Hypotonia, Truncal o... OMIM:301072
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Difficulty walking, Dystonia, Progressive extrapyramidal muscular rigidity ORPHA:401768
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Limb dystonia, Lingual dystonia, L... ORPHA:93958
Spinocerebellar Ataxia Type 6
Unsteady gait, Gait ataxia, Blepharospasm, Progressive cerebellar ataxia, Dystonia, Intention tremor ORPHA:98758
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Tremor, Cerebral atrophy, Gait ataxia, Limb dystonia, Spasticity, Neuron... ORPHA:363400
Alzheimer Disease 3
Spastic tetraparesis, Gait disturbance, Dystonia, Cerebral cortical atrophy, Optic ataxia OMIM:607822
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Laryngeal dystonia, Dystonia OMIM:616398
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Inability to walk, Hypotonia, Generalized hypotonia, Spasticity, Fa... ORPHA:70472
Lissencephaly, X-Linked, 2
Spasticity, Gliosis, Hypotonia, Generalized hypotonia OMIM:300215
Atypical Progressive Supranuclear Palsy Syndrome
Extrapyramidal muscular rigidity, Tremor, Rigidity, Unsteady gait, Focal dystonia, Blepharospasm,... ORPHA:99750
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Axial hypotonia, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady g... ORPHA:35069
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Hypotonia, Limb ataxia, Gait ataxia, Growth delay, G... OMIM:248500
X-Linked Creatine Transporter Deficiency
Short stature, Ataxia, Cachexia, Hypotonia, Athetosis, Hypertonia, Dystonia ORPHA:52503
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Hypertonia, Gliosis, Spastic tetraplegia OMIM:608033
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Rigidity, Hand tremor, Gait disturbance, Shuffling gait, Spastic paraparesis, Spasticity ORPHA:289560
Friedreich Ataxia
Inability to walk, Limb ataxia, Dysmetria, Gait ataxia, Falls, Gait imbalance, Dystonia, Spastici... ORPHA:95
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Ataxia, Growth delay, Dystonia, Intrauterine growth retardation, Spasticity OMIM:617341
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Spasticity, Generalized dystonia, Cerebral atrophy OMIM:618235
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ... OMIM:617988
Intermediate Nemaline Myopathy
Severe muscular hypotonia, Hypokinesia, Difficulty walking ORPHA:171433
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... ORPHA:431361
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity OMIM:619616
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Dystonia ORPHA:98757
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hypotonia, Dystonia, Intrauterine growth retardation, Spasticity, Fail... OMIM:614702
Pontocerebellar Hypoplasia, Type 9
Axial hypotonia, Facial hypotonia, Hypertonia, Dystonia, Spasticity, Cerebral cortical atrophy OMIM:615809
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Generalized hypotonia, Dystonia OMIM:618230
Birk-Landau-Perez Syndrome
Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Limb ataxia, Growth delay, Chore... OMIM:617595
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Spastic paraplegia, Cerebral atrophy, Tip-toe gait, Gait d... ORPHA:83629
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia OMIM:616299
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Dysmetria, Gait ataxia, Cerebral atrophy, Dysdiadochokinesis, Hypertonia, Neu... OMIM:610217
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Ataxia, Choreoathetosis, Gait imbalance, Head tremor, Dystonia, Cerebellar vermi... ORPHA:64753
Mercaptolactate-Cysteine Disulfiduria
Hypokinesia OMIM:249650
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Machado-Joseph Disease Type 1
Cerebellar atrophy, Substantia nigra gliosis, Progressive cerebellar ataxia, Progressive gait ata... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Substantia nigra gliosis, Progressive cerebellar ataxia, Progressive gait ata... ORPHA:276241
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Cerebral atrophy, Hypotonia, Generalized hypotonia, Dystonia OMIM:617268
Leukodystrophy, Progressive, Early Childhood-Onset
Appendicular spasticity, Axial hypotonia, Short stature, Cerebral atrophy, Dystonia OMIM:617762
Neuroferritinopathy
Resting tremor, Caudate atrophy, Writer's cramp, Leg dystonia, Focal dystonia, Blepharospasm, Arm... ORPHA:157846
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Severe muscular hypotonia, Hypotonia, Cerebral atrophy, Opisthotonus, Dystoni... OMIM:616672
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty walking, Dystonia, Spasticity OMIM:617807
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... ORPHA:329308
Leigh Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Spastic diplegia, Growth delay, Athetosis, Choreoathetosis,... ORPHA:506
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Axial hypotonia, Choreoathetosis, Hypertonia, Dystonia, Spasticity OMIM:618451
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Hypotonia, Choreoathetosis, Dystonia ORPHA:289916
Machado-Joseph Disease Type 3
Cerebellar atrophy, Substantia nigra gliosis, Degeneration of anterior horn cells, Progressive ce... ORPHA:276244
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Failure to thrive, Hypotonia, Dystonia ORPHA:79312
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Upper limb postural tremor, Tremor, Rigidity, Hand tremor, Pill-r... OMIM:612953
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Axial hypotonia, Dystonia ORPHA:289504
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebellar atrophy, Axial hypotonia, Short stature, Cerebral atrophy, Limb dystonia OMIM:620269
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Short stature, Hypotonia, Neurodegeneration OMIM:620210
Bilateral Generalized Polymicrogyria
Axial hypotonia, Short stature, Oculogyric crisis, Spastic tetraplegia, Growth delay, Dystonia, S... ORPHA:208447
Glutaric Acidemia I
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... OMIM:231670
Gaucher Disease Type 2
Spasticity, Dystonia ORPHA:77260
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Short stature, Ataxia, Spastic paraplegia, Hypotonia, Dystonia, Cerebral cort... ORPHA:254913
Siddiqi Syndrome
Limb dystonia OMIM:618635
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Hypotonia, Cerebral atrophy, Dystonia ORPHA:439218
Parkinson Disease 20, Early-Onset
Tremor, Rigidity, Gait disturbance, Shuffling gait, Cerebral cortical atrophy, Dystonia, Short st... OMIM:615530
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Hypotonia, Spastic tetraplegia, Opisthotonus, Growth delay, Cerebral at... OMIM:252160
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Short stature, Limb ataxia, Gait ataxia, Titubation, Difficulty ... ORPHA:98768
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of bulbar muscles, Motor neuron atrophy, Fatiga... ORPHA:803
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Hypotonia, Dystonia, Cerebral cortical atrophy, Limb hype... OMIM:618004
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Gait disturbance, Orom... ORPHA:412217
Congenital Disorder Of Glycosylation, Type Iu
Generalized hypotonia, Severe muscular hypotonia, Hypokinesia OMIM:615042
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Hypokinesia OMIM:149400
Classic Galactosemia
Dystonia, Ataxia, Postural tremor, Gait disturbance, Gait imbalance, Delayed puberty, Action tremor ORPHA:79239
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Cogwheel rigidity, Dystonia, Intention tremor OMIM:619725
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Cerebellar atrophy, Dystonia, Short stature, Ataxia, Tremor, Inability to walk, Hy... OMIM:615356
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Rhizomelia, Ataxia, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Growth... OMIM:616271
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Axial hypotonia, Short stature, Small for gestational age, Postnatal growth retardation, Hypokinesia OMIM:613320
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Facial hypotonia, Small for gestational age, Inability to walk, Cerebral atro... ORPHA:404454
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm OMIM:606324
Typical Nemaline Myopathy
Waddling gait, Fatigable weakness of distal limb muscles, Fatiguable weakness of proximal limb mu... ORPHA:171436
Kleefstra Syndrome Due To A Point Mutation
Short stature, Large for gestational age, Hypotonia, Gliosis, Failure to thrive ORPHA:261652
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Rigidity, Limb ataxia, Gait at... ORPHA:227510
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Axial hypotonia, Short stature, Hypotonia, Hypertonia, Gait disturbance, Dyston... OMIM:300352
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Progressive cerebellar ataxia, Dystonia OMIM:618868
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Spasticity, Pallidal degeneration, Dystonia OMIM:607236
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Postnatal growth retardation, Inability to walk, Hypotonia, Athetosis, Dystonia, Intraute... ORPHA:357058
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hypokinesia OMIM:619063
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Dystonia, Spasticity OMIM:619286
Rasmussen Subacute Encephalitis
Hemidystonia, Inability to walk, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, Glo... ORPHA:1929
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Ataxia, Dystonia OMIM:616113
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... ORPHA:102
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Hypotonia, Cerebral atrophy, Ast... OMIM:203700
Intellectual Developmental Disorder, Autosomal Dominant 43
Ataxia, Hypotonia, Dystonia, Frontal cortical atrophy, Failure to thrive OMIM:616977
Hypermanganesemia With Dystonia 1
Tremor, Rigidity, Steppage gait, Dystonia, Spastic paraparesis OMIM:613280
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Spastic tetraparesis, Dystonia ORPHA:404451
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Abnormal... OMIM:252150
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Generalized hypotonia, Dystonia OMIM:613970
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Growth delay, Spastic paraplegia, Axial dystonia, Failure to thrive in infancy OMIM:619026
Parkinsonian-Pyramidal Syndrome
Substantia nigra gliosis, Rigidity, Shuffling gait, Dystonia, Spasticity, Intention tremor ORPHA:171695
Dentatorubral Pallidoluysian Atrophy
Ataxia, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia, Progressive cerebellar... ORPHA:101
Myopathy With Extrapyramidal Signs
Ataxia, Tremor, Hypotonia, Growth delay, Choreoathetosis, Difficulty walking, Dystonia OMIM:615673
Continuous Spikes And Waves During Sleep
Dystonia ORPHA:725
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Lower limb spasticity, Ataxia, Dysmetria, Arm dystonia, Gait disturbance, Atr... ORPHA:88644
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Broad-based gait, Dystonia, Short stature, Small for gestational age, Failure... OMIM:618891
Mitochondrial Complex I Deficiency, Nuclear Type 33
Axial hypotonia, Small for gestational age, Generalized hypotonia, Loss of ambulation, Intrauteri... OMIM:618253
Posttransplant Acute Limbic Encephalitis
Ataxia, Dystonia ORPHA:163921
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Dystonia, Rigidity, Limb ataxia, Gait ataxia, Steppage gait, Truncal ataxia, ... OMIM:258450
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Axial hypotonia, Corpus callosum atrophy, Cerebral atrophy, Brain atrophy, Dy... OMIM:616875
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Scis... ORPHA:466722
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Niemann-Pick Disease, Type C1
Ataxia, Hypotonia, Gait ataxia, Generalized hypotonia, Dystonia, Spasticity, Neuronal loss in cen... OMIM:257220
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Axonal degeneration, Generalized hypotonia, Dystonia, Spasticity, Global brai... OMIM:616811
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Axial hypotonia, Hypotonia, Cerebral atrophy, Opisthotonus, Dystonia, Spastic... OMIM:612389
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis, Fatigable weakness of neck muscles, Hypotonia ORPHA:26791
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... ORPHA:98933
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Cerebral atrophy, Gait disturbance, N... OMIM:616878
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Choreoathetosis, Lower limb hypertonia, Upper limb hypertonia, Infantile axi... ORPHA:2524
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Ataxia, Atrophy/Degeneration affecting the brainstem, Growth delay, Dyston... ORPHA:66634
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia OMIM:105300
Leber Optic Atrophy
Postural tremor, Ataxia, Dystonia OMIM:535000
African Trypanosomiasis
Akinesia, Tremor, Weight loss, Choreoathetosis, Gait disturbance, Difficulty walking ORPHA:3385
Propionic Acidemia
Axial hypotonia, Short stature, Cerebral atrophy, Dystonia, Failure to thrive, Limb hypertonia OMIM:606054
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Ataxia, Postural tremor, Rigidity, Focal dystonia, Gait ataxia... ORPHA:98808
Alg3-Cdg
Spastic tetraparesis, Hypotonia, Subcortical cerebral atrophy, Hypertonia, Brain atrophy, Dystonia ORPHA:79321
Developmental And Epileptic Encephalopathy 38
Dystonia, Axial hypotonia, Ataxia, Limb hypertonia OMIM:617020
Congenital Disorder Of Glycosylation, Type Ii
Decreased body weight, Short stature, Generalized hypotonia, Dystonia OMIM:607906
German Syndrome
Short stature, Hypotonia, Hypokinesia ORPHA:2077
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cerebral atrophy, Athetosis, ... ORPHA:572798
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Infantile axial hypotonia, Corpus callosum atrophy, Leg dystonia, Cerebral... ORPHA:565624
Rett Syndrome
Inability to walk, Gait disturbance, Difficulty walking, Dystonia, Failure to thrive, Infantile m... ORPHA:778
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Dystonia, Rigidity, Leg dystonia, Choreoathetosis, Tip-toe gait, Gait dist... ORPHA:157850
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Ataxia, Small for gestational age, Hypotonia, Cerebral atrophy, Growth delay,... OMIM:615471
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Short stature, Tremor, Unsteady gait, Hypotonia, Weight loss, Gait ... ORPHA:354
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Ataxia, Dystonia ORPHA:453533
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia, Cerebral cortical atrophy OMIM:277410
Cockayne Syndrome
Cerebellar atrophy, Severe short stature, Ataxia, Axial hypotonia, Cachexia, Action tremor, Postn... ORPHA:191
Choreoacanthocytosis
Progressive choreoathetosis, Caudate atrophy, Dystonia OMIM:200150
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Resting tremor, Dystonia, Ataxia, Axonal degeneration, Gait disturbance, Glio... ORPHA:909
Metachromatic Leukodystrophy
Ataxia, Hypotonia, Spastic tetraplegia, Gait disturbance, Generalized hypotonia, Dystonia OMIM:250100
Cimdag Syndrome
Ataxia, Hypotonia, Cerebral atrophy, Pontocerebellar atrophy, Dystonia, Spasticity OMIM:619273
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Ataxia, Severe muscular hypotonia, Tremor, Rigidity, Athetosis, ... ORPHA:25
Triosephosphate Isomerase Deficiency
Tremor, Unsteady gait, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity, ... OMIM:615512
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Spasticity, Cachexia, Dystonia OMIM:618186
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Hyp... ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Hypotonia, Cerebral atrophy, Dystonia OMIM:620167
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Decerebrate rigidity, Generalized hypotonia, ... ORPHA:309256
Wieacker-Wolff Syndrome
Short stature, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity OMIM:314580
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Ataxia, Unsteady gait, Neurodege... OMIM:615919
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Exaggerated startle response, Facial hypotonia, Ataxia, Severe muscular hypoton... ORPHA:438216
Aicardi-Goutieres Syndrome 1
Axial hypotonia, Short stature, Inability to walk, Cerebral atrophy, Dystonia, Spasticity OMIM:225750
Aicardi-Goutieres Syndrome 9
Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Cerebr... OMIM:619487
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:607485
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Tremor, Limb ataxia, Gait ataxia, Progressive gait ataxia, Pontocerebellar at... OMIM:606002
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb dystonia, Inability to walk, Brain atrophy, Infantile muscular hypotonia, Neonatal hypotonia... ORPHA:457351
Slc39A8-Cdg
Cerebellar atrophy, Short stature, Severe muscular hypotonia, Failure to thrive in infancy, Inabi... ORPHA:468699
Caribbean Parkinsonism
Rigidity, Progressive gait ataxia, Dystonia, Cerebral cortical atrophy, Action tremor ORPHA:97355
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Dystonia, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Difficulty... OMIM:610978
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Astrocytosis, Dysdiadochokinesis, Hypertonia, Gait disturbance, Difficulty wa... ORPHA:309854
Lesch-Nyhan Syndrome
Short stature, Hypotonia, Opisthotonus, Choreoathetosis, Dystonia, Spasticity OMIM:300322
Congenital Disorder Of Deglycosylation 1
Facial hypotonia, Hypotonia, Dysmetria, Athetosis, Gliosis, Decreased body weight, Action tremor OMIM:615273
Filippi Syndrome
Severe short stature, Short stature, Hypotonia, Growth delay, Limb dystonia, Intrauterine growth ... ORPHA:3255
Cadds
Cerebellar atrophy, Intrauterine growth retardation, Dystonia ORPHA:369942
Ataxia-Telangiectasia
Dystonia, Short stature, Ataxia, Tremor, Inability to walk, Choreoathetosis, Progressive cerebell... OMIM:208900
Adrenoleukodystrophy
Spastic paraplegia, Neurodegeneration, Limb ataxia, Truncal ataxia OMIM:300100
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Small for gestational age, Tremor, Hypotonia, Gliosis, Dystonia,... ORPHA:506358
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Gait disturbance, Dystonia OMIM:617903
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Generalized dystonia, Spastic tetraparesis, Dystonia, Failure to thrive OMIM:620358
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Corpus callosum atrophy, Hypotonia, Gliosis, Neonatal hypotonia, Failure to t... OMIM:261515
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Cerebral atrophy, Dystonia, Intrauterine growth retardation, Spasticity OMIM:618397
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Cerebral atrophy, Gliosis, Generalized hy... OMIM:124000
Young-Onset Parkinson Disease
Tremor, Rigidity, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Hypotonia, Astrocytosis, Pontocerebellar atrophy, Decreased body weight, Neona... ORPHA:258
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Intrauterine growth retardation, Limb ... OMIM:619909
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Axial hypotonia, Cerebral cortical atrophy, Dystonia OMIM:617669
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Axial hypotonia, Short stature, Ataxia, Small for gestational age, Spastic te... OMIM:251300
Coach Syndrome 1
Ataxia, Hypotonia, Growth delay, Generalized hypotonia, Dystonia, Spasticity OMIM:216360
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Postnatal growth retardation, Inability to walk, Spastic tetraplegia... ORPHA:300570
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy ORPHA:478029
Myopathy, Centronuclear, X-Linked
Neonatal hypotonia, Severe muscular hypotonia, Hypokinesia OMIM:310400
Developmental And Epileptic Encephalopathy 84
Axial hypotonia, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity OMIM:618792
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Head titubation, Dysmetria, Dystonia, Intention tremor OMIM:619708
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Cerebral atrophy, Dystonia OMIM:617804
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Cerebral atrophy, Abnormal... ORPHA:1320
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Ataxia, Growth delay, Progressive spasticity, Dystonia, Spasticity, Cerebral ... ORPHA:496641
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Ataxia, Postnatal growth retardation, Tremor, Spastic diplegia, Gait disturba... OMIM:300966
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Decerebrate rigidity, Generalized hypotonia, Dystonia, Spasticity, Inten... ORPHA:309263
Nabais Sa-De Vries Syndrome, Type 2
Neonatal hypotonia, Failure to thrive in infancy, Dystonia OMIM:618829
Multiple System Atrophy 1, Susceptibility To
Tremor, Ataxia, Rigidity, Neurodegeneration OMIM:146500
Pyruvate Carboxylase Deficiency
Ataxia, Tremor, Cerebellar gliosis, Hypotonia, Growth delay, Tip-toe gait, Generalized hypotonia,... ORPHA:3008
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Spastic tetraplegia, Neurodegeneration, Difficulty walking, Spasticity OMIM:618476
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Axial hypotonia, Large for gestational age, Hypotonia, Upper limb spastici... OMIM:300868
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Short stature, Small for gestational age, Failure to thrive in infancy,... ORPHA:268261
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Short stature, Small for gestational age, Hypotonia, Spastic tetraplegia, Hypertonia, Dystonia, F... OMIM:620024
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Small for gestational age, Tremor, Hypotonia, Dysmetria, Gliosis, Truncal ataxi... OMIM:220111
Neurodevelopmental Disorder With Spasticity And Poor Growth
Axial hypotonia, Short stature, Ataxia, Generalized dystonia, Opisthotonus, Growth delay, Limb hy... OMIM:618076
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Hypotonia OMIM:231680
Pseudo-Torch Syndrome 1
Axial hypotonia, Hypotonia, Dystonia, Spasticity, Failure to thrive OMIM:251290
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Hypotonia, Progressive spastic quadriplegia, Dystonia, Ce... ORPHA:521426
Brain-Lung-Thyroid Syndrome
Short stature, Ataxia, Growth delay, Choreoathetosis, Falls, Dystonia, Failure to thrive, Infanti... ORPHA:209905
Metachromatic Leukodystrophy, Adult Form
Dystonia, Progressive spastic quadriplegia, Progressive gait ataxia, Decerebrate rigidity, Genera... ORPHA:309271
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Hemidystonia, Tremor, Obesity, Neonatal hypotonia OMIM:619680
Adult-Onset Dystonia-Parkinsonism
Tremor, Rigidity, Focal dystonia, Frontotemporal cerebral atrophy, Generalized cerebral atrophy/h... ORPHA:199351
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Axial hypotonia, Cerebral cortical atrophy, Dystonia ORPHA:500144
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Ataxia, Postnatal growth retardation, Tremor, Dystonia, Intrauterine growth retard... OMIM:612199
Chromosome 18P Deletion Syndrome
Small for gestational age, Short stature, Hypotonia, Dystonia OMIM:146390
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Failure to thrive, Obesity, Dystonia ORPHA:261197
Fucosidosis
Short stature, Spastic tetraplegia, Hypotonia, Cerebral atrophy, Dystonia, Failure to thrive, Spa... OMIM:230000
Metachromatic Leukodystrophy
Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive spasticity, Dys... ORPHA:512
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Hypotonia, Dystonia OMIM:619167
Vici Syndrome
Postnatal growth retardation, Abnormal posturing, Failure to thrive, Hypotonia OMIM:242840
Combined Oxidative Phosphorylation Deficiency 12
Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Neonatal hypotonia, Failure to thrive OMIM:614924
Poliomyelitis
Diminished movement, Inability to walk, Fatigable weakness of respiratory muscles ORPHA:2912
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Dystonia, Intrauterine growth r... OMIM:617557
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypotonia, Dystonia OMIM:614105
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Diffuse cerebral atrophy, Decerebrate rigidity, Dystonia, Intrauter... ORPHA:79255
Severe Congenital Nemaline Myopathy
Severe muscular hypotonia, Hypokinesia ORPHA:171430
Monosomy 18P
Generalized dystonia, Short stature, Hypotonia ORPHA:1598
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Short stature ORPHA:79107
Chediak-Higashi Syndrome
Tremor, Ataxia, Gait disturbance, Neurodegeneration OMIM:214500
Papillorenal Syndrome
Short stature, Gliosis OMIM:120330
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypertonia, Ataxia, Global brain atrophy, Dystonia ORPHA:480864
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Growth delay, Neonatal hypotonia, Short stature, Dystonia ORPHA:457193
Rett Syndrome, Congenital Variant
Athetosis, Generalized hypotonia, Dystonia, Neonatal hypotonia, Spasticity OMIM:613454
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Decreased body weight, Intention tremor, Ataxia, Overweight, Obesity, Delayed puberty... OMIM:619475
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypotonia, Cerebral atrophy, Growth delay, Hypertonia, Generalized hypotonia, Dystonia, F... OMIM:617248
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Choreoathetosis, Dystonia, Episodic ataxia,... ORPHA:1934
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Tremor, Hypotonia, Generalized hypotonia, Dystonia, Neonatal hypotonia, Intrauterine grow... OMIM:610505
Helsmoortel-Van Der Aa Syndrome
Short stature, Hypotonia, Obesity, Truncal obesity, Gliosis, Intrauterine growth retardation, Fai... OMIM:615873
Hermansky-Pudlak Syndrome 10
Cerebral atrophy, Axial hypotonia, Generalized hypotonia, Dystonia OMIM:617050
Blepharonasofacial Malformation Syndrome
Torsion dystonia ORPHA:1252
Intellectual Developmental Disorder, Autosomal Dominant 42
Dystonia, Inability to walk, Hypotonia, Growth delay, Limb dystonia, Infantile axial hypotonia, F... OMIM:616973
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Hypertonia, Dystonia, Spasticity OMIM:619124
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Dystonia, Unsteady gait, Cerebral atrophy, Growth delay, Choreoathetosis, Hypertonia, Infantile m... ORPHA:17
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Short stature, Ataxia, Inability to walk, Hypotonia, Dystonia, Failure to thrive OMIM:620083
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Short stature, Ataxia, Hypotonia, Growth delay, Dystonia, Loss of ambulation, F... OMIM:256810
Alternating Hemiplegia Of Childhood
Facial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Failure to thrive ORPHA:2131
Wilson Disease
Dystonia, Tremor, Rigidity, Hand tremor, Limb dystonia, Hypokinesia OMIM:277900
Niemann-Pick Disease, Type C2
Spasticity, Ataxia, Hypotonia, Dystonia OMIM:607625
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Short stature, Axial hypotonia, Dystonia, Tremor, Spastic tetra... ORPHA:51
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Cere... OMIM:615846
Lipoid Proteinosis
Dystonia ORPHA:530
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Gait ataxia, Hypertonia, Dystonia, Spasticity, Failure to thrive, Infantile muscular hypo... ORPHA:255210
Niemann-Pick Disease Type C
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Tremor, Hypotonia, Cerebral atrophy, Pro... ORPHA:646
Kufor-Rakeb Syndrome
Oculogyric crisis, Rigidity, Blepharospasm, Hypertonia, Gait disturbance, Difficulty walking, Lin... ORPHA:306674
Mercury Poisoning
Tremor, Dystonia ORPHA:330021
Japanese Encephalitis
Tremor, Cogwheel rigidity, Choreoathetosis, Opisthotonus, Pill-rolling tremor, Hypertonia, Dystonia ORPHA:79139
Cerebral Visual Impairment
Central nervous system degeneration, Neurodegeneration ORPHA:447788
Unilateral Polymicrogyria
Abnormal posturing, Axial hypotonia, Appendicular hypotonia, Spastic tetraplegia ORPHA:268943
Isolated Posterior Meningocele
Upper limb spasticity, Hypertonia, Hypokinesia, Difficulty walking ORPHA:268810
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Gliosis, Generalized hypotonia OMIM:617403
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Lower limb spasticity, Axial hypotonia, Short stature, Ataxia, Dystonia, Spastic tetraplegia, Hyp... OMIM:619950
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Mild short stature, Severe short stature, Short stature OMIM:309900
Diets-Jongmans Syndrome
Short stature, Gliosis, Generalized hypotonia OMIM:618846
Beta-Ureidopropionase Deficiency
Neonatal hypotonia, Hypotonia, Dystonia OMIM:613161
Mucopolysaccharidosis, Type Vii
Postnatal growth retardation, Severe short stature, Short stature, Neurodegeneration OMIM:253220
Choreoacanthocytosis
Resting tremor, Caudate atrophy, Head titubation, Oromandibular dystonia, Weight loss, Blepharosp... ORPHA:2388
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Choreoathetosis, Dystonia, Ataxia, Infantile muscular hypotonia ORPHA:522077
Rat-Bite Fever
Diminished movement, Weight loss ORPHA:31205
Mcleod Syndrome
Dystonia OMIM:300842
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia ORPHA:98784
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Axial hypotonia, Oculogyric crisis, Hypertonia ORPHA:1578
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Axial hypotonia, Brain atrophy, Dystonia OMIM:618278
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia ORPHA:79233
Hurler Syndrome
Neurodegeneration, Short stature OMIM:607014
Mogs-Cdg
Dystonia, Infantile muscular hypotonia ORPHA:79330
Danon Disease
Hypokinesia OMIM:300257
Nijmegen Breakage Syndrome
Neurodegeneration, Intrauterine growth retardation, Short stature, Glioma OMIM:251260
Arboleda-Tham Syndrome
Axial hypotonia, Hypotonia, Growth delay, Lower limb hypertonia, Gait imbalance, Generalized hypo... OMIM:616268
Alobar Holoprosencephaly
Short stature, Inability to walk, Growth delay, Limb dystonia, Infantile axial hypotonia, Spastic... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Inability to walk, Growth delay, Limb dystonia, Infantile axial hypotonia, Spastic... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Inability to walk, Growth delay, Limb dystonia, Infantile axial hypotonia, Spastic... ORPHA:93924
Semilobar Holoprosencephaly
Short stature, Inability to walk, Growth delay, Limb dystonia, Infantile axial hypotonia, Spastic... ORPHA:220386
Legius Syndrome
Optic nerve glioma, Short stature, Hypotonia, Dystonia ORPHA:137605
Holoprosencephaly
Spasticity, Failure to thrive in infancy, Hypotonia, Dystonia ORPHA:2162
Woodhouse-Sakati Syndrome
Growth delay, Dystonia, Choreoathetosis, Delayed puberty ORPHA:3464
Nmda Receptor Encephalitis
Oculogyric crisis, Rigidity, Opisthotonus, Choreoathetosis, Dystonia ORPHA:217253
Orofaciodigital Syndrome Type 1
Tremor, Ataxia, Dystonia ORPHA:2750
Woodhouse-Sakati Syndrome
Choreoathetosis, Dystonia OMIM:241080
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Short stature, Dystonia, Inability to walk, Infan... ORPHA:438213
Neuroleptic Malignant Syndrome
Tremor, Extrapyramidal muscular rigidity, Oculogyric crisis ORPHA:94093
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Severe short stature, Dystonia ORPHA:90349
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Hypotonia, Dystonia OMIM:620330
Primrose Syndrome
Short stature, Ataxia, Hypotonia, Truncal obesity, Neurodegeneration, Delayed puberty OMIM:259050
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Spasticity, Dystonia, Limb dystonia OMIM:175780

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Inpp4a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Inpp4a.

No publications found that use IMPC mice or data for Inpp4a.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Inpp4atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Inpp4atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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