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Gene: Vps16 MGI:2136772

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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:
VSP16 CORVET/HOPS core subunit
Synonyms:
1810074M16Rik

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 Vps16 mutations

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

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

The table below shows human diseases associated to Vps16 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dystonia 30
Torticollis, Writer's cramp, Oromandibular dystonia, Leg dystonia, Arm dystonia, Dystonia, Loss o... OMIM:619291

The table below shows human diseases predicted to be associated to Vps16 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... ORPHA:329466
Dystonia 25
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:615073
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia OMIM:619681
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... OMIM:602629
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia OMIM:128101
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia OMIM:620245
Dystonia 33
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity OMIM:619687
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia OMIM:611694
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Primary Dystonia, Dyt21 Type
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... ORPHA:306734
Dystonia 30
Torticollis, Writer's cramp, Oromandibular dystonia, Leg dystonia, Arm dystonia, Dystonia, Loss o... OMIM:619291
Primary Dystonia, Dyt6 Type
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... ORPHA:98806
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis, Torticollis OMIM:118800
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Head tremor, Limb dystonia OMIM:614860
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Craniofacia... OMIM:619565
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Unsteady gait, Tip-toe gait, Dystonia, Spastic gait ORPHA:320411
Dystonia 32
Torticollis, Laryngeal dystonia, Limb dystonia OMIM:619637
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Spastic paraplegia, Unsteady gait, Dystonia, Tip-toe gait OMIM:615030
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Striatonigral Degeneration, Childhood-Onset
Unsteady gait, Hypotonia, Steppage gait, Hypertonia, Dystonia, Loss of ambulation, Craniofacial d... OMIM:617054
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Difficulty walking, L... ORPHA:99657
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia OMIM:619966
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Gait disturbance, Dystonia, Spasticity OMIM:614561
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Spastic tetraplegia, Dystonia OMIM:618646
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Dystonia OMIM:618425
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Retrocollis, Dystonia, Oromandibular dystoni... OMIM:617284
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Dystonia, Hypertonia, Spastic gait, Cogwheel rigidity OMIM:618284
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Difficulty walking, Dystonia OMIM:619661
Developmental And Epileptic Encephalopathy 7
Hypotonia, Spastic tetraparesis, Dystonia OMIM:613720
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Spastic paraplegia, Gait disturbance, Dystonia OMIM:108600
Dystonia 11, Myoclonic
Tremor, Hypotonia, Torticollis, Writer's cramp OMIM:159900
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Dystonia, Spasticity ORPHA:309169
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, Writer's cramp ORPHA:163727
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Axial hypotonia, Oculogyric crisis, Hypertonia, Generalized hypotonia, Dystonia... OMIM:617384
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Gait disturbance, Rigidity, Dystonia OMIM:600116
Striatonigral Degeneration, Infantile
Choreoathetosis, Spasticity, Dystonia OMIM:271930
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia OMIM:602124
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Dystonia ORPHA:36899
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Writer's cramp, Dystonia ORPHA:98809
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Dystonia OMIM:104290
Spinocerebellar Ataxia Type 11
Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia ORPHA:98767
Dystonia 16
Torticollis, Unsteady gait, Postural tremor, Limb dystonia ORPHA:210571
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Inability to walk, Athetosis, Dystonia OMIM:615159
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Rigidity, Limb ataxia, Gait ataxia, Head tremor, Limb dystonia, Spasticity ORPHA:101109
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston... ORPHA:314603
Dystonia 16
Generalized dystonia, Postural tremor, Gait disturbance, Retrocollis, Limb dystonia, Laryngeal dy... OMIM:612067
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Generalized hypotonia, Dystonia OMIM:616763
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Tremor, Rigidity, Gait ataxia, Limb dystonia OMIM:605407
Dystonia 9
Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia OMIM:601042
Dystonia 21
Blepharospasm, Torticollis, Laryngeal dystonia OMIM:614588
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Axial hypotonia, Dystonia OMIM:619647
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Postural tremor, Writer's cramp, Cogwheel rigidity, Gait ataxia, Dys... OMIM:128230
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Difficulty walking, Dystonia, Spasticity OMIM:617829
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Laryngeal dystonia, Dystonia OMIM:616398
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Pill-rolling tremor, Shuffling gait, Dystonia, Loss of ambulation, Spasticity, Limb hyp... OMIM:615528
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Ataxia, Dystonia OMIM:125370
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head tremor, Action... OMIM:604326
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Limb ataxia, Upper limb spasticity, Gait disturbance, ... OMIM:618418
Spinocerebellar Ataxia, Autosomal Recessive 29
Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inability to walk, Hypotonia OMIM:619389
Dystonia 12
Tremor, Torticollis, Unsteady gait, Dystonia OMIM:128235
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dystonia, Loss of a... OMIM:617916
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular... ORPHA:420485
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia OMIM:614249
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia ORPHA:67046
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Torsion dystonia, Choreoathetosis, Dystonia ORPHA:98811
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Ataxia, Rigidity, Dystonia ORPHA:401901
Parkinsonism-Dystonia 1, Infantile-Onset
Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Cogwheel rigidity, Hypertonia, Li... OMIM:613135
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia OMIM:314250
Paroxysmal Non-Kinesigenic Dyskinesia
Choreoathetosis, Torticollis, Rigidity, Dystonia ORPHA:98810
Episodic Kinesigenic Dyskinesia 2
Dystonia OMIM:611031
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Limb ataxia, Spastic dysarthri... ORPHA:251282
Alternating Hemiplegia Of Childhood 2
Choreoathetosis, Ataxia, Dystonia OMIM:614820
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Tip-toe gait, Gait disturbance, Spastic paraparesis, Oro... OMIM:615643
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia ORPHA:53583
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Hypotonia, Dystonia, Spasticity ORPHA:599373
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Difficul... ORPHA:420492
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Spastic tetraplegia, Dystonia OMIM:251280
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia... OMIM:616127
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Dystonia OMIM:619196
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Gait ataxia, Generalized hypotonia, Limb dystonia, Craniofacial dyst... ORPHA:71517
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia OMIM:260300
Parkinsonism-Dystonia 2, Infantile-Onset
Axial hypotonia, Ataxia, Oculogyric crisis, Tremor, Hypotonia, Dysdiadochokinesis, Shuffling gait... OMIM:618049
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Limb dystonia ORPHA:306741
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Dystonia, Ataxia, Hypotonia, Gait ataxia, Gait disturbance, Difficulty wal... OMIM:614458
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Infantile axial hypotonia, Tremor, Scissor gait, Oromandibular dystonia, Dystonia, Loss of ambula... ORPHA:521406
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic gait, Spastic tetraparesis OMIM:619052
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Axial hypotonia, Ataxia, Tremor, Gait ataxia, Dystonia, Spasticity OMIM:607317
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Spasticity OMIM:612716
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Hypotonia, Dysmetria, Choreoathetosis, Dystonia, Loss of ambulation, Spasticity OMIM:618088
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper limb hypertonia, Dystonia OMIM:614898
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypotonia, Choreoathetosis, Hypertonia, Dystonia OMIM:261630
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Gen... OMIM:616756
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Hand tremor OMIM:608105
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Axial hypotonia, Dystonia OMIM:618760
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Ataxia, Spastic tetraplegia, Infantile muscular hypotonia ORPHA:263410
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypotonia, Generalized hypotonia, Dystonia OMIM:618244
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Hypotonia, Dystonia OMIM:620359
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Head tremor, Dystonia OMIM:619724
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia OMIM:610181
Mitochondrial Complex I Deficiency, Nuclear Type 17
Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dystonia OMIM:618239
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Generalized hypotonia, Dystonia OMIM:617836
Developmental And Epileptic Encephalopathy 69
Inability to walk, Axial hypotonia, Spastic tetraplegia, Dystonia OMIM:618285
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Hypotonia, Limb dystonia OMIM:620270
Leukodystrophy, Hypomyelinating, 14
Spasticity, Generalized hypotonia, Dystonia OMIM:617899
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity OMIM:618276
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Resting tremor, Dystonia OMIM:605909
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Gait ataxia, Laryngeal dyst... ORPHA:101110
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Torticollis, Head titubation, Truncal ataxia, Limb ataxia, Hypotonia, Limb dystonia, Spasticity OMIM:617560
Leukodystrophy, Hypomyelinating, 25
Dystonia, Hypotonia, Gait ataxia OMIM:620243
Partington Syndrome
Limb dystonia, Lower limb spasticity, Focal dystonia OMIM:309510
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Spasticity, Hypotonia, Dystonia OMIM:617820
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Unsteady gait, Dysmetria, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia... ORPHA:453521
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Inability to walk, Opisthotonus, Cho... OMIM:619653
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Ataxia, Dystonia ORPHA:1171
Spastic Paraplegia, Ataxia, And Mental Retardation
Lower limb spasticity, Ataxia, Spastic paraplegia, Dystonia, Spastic gait OMIM:607565
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Axial hypotonia, Dystonia OMIM:619651
Brain Dopamine-Serotonin Vesicular Transport Disease
Axial hypotonia, Ataxia, Oculogyric crisis, Spastic tetraparesis, Dystonia, Tremor, Dysdiadochoki... ORPHA:352649
Partington Syndrome
Lower limb spasticity, Gait disturbance, Limb dystonia ORPHA:94083
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Rigidity, Limb ataxia, Hypertonia, Limb dystonia OMIM:618824
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Dystonia OMIM:617145
Mitochondrial Myopathy With Lactic Acidosis
Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity OMIM:251950
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Spasticity, Ataxia, Dystonia OMIM:615924
Pontocerebellar Hypoplasia, Type 2C
Dystonia OMIM:612390
Huntington Disease-Like 2
Gait disturbance, Dystonia ORPHA:98934
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Spasticity, Ataxia, Dystonia OMIM:612951
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, H... OMIM:128100
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm OMIM:606324
Spinocerebellar Ataxia 14
Progressive cerebellar ataxia, Focal dystonia, Dysmetria, Gait ataxia OMIM:605361
Pelizaeus-Merzbacher Disease, Classic Form
Axial hypotonia, Ataxia, Dystonia, Spastic tetraparesis, Dystonic gait, Hypotonia, Titubation, At... ORPHA:280219
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Gait disturbance, Dystonia ORPHA:314632
Multiple Mitochondrial Dysfunctions Syndrome 6
Ataxia, Inability to walk, Hypotonia, Dysmetria, Dystonia, Spasticity OMIM:617954
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Rigidity, Focal dystonia, Gait disturbance, Limb dystonia, Oromandibular dystonia, Spasti... ORPHA:216873
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, Shuffling gait,... OMIM:617964
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis, Dystonia, Neonatal... OMIM:245348
Basal Ganglia Calcification, Idiopathic, 1
Tremor, Rigidity, Athetosis, Dysdiadochokinesis, Gait disturbance, Dystonia, Limb dysmetria OMIM:213600
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Writer's cramp, Rigidity, Blepharospasm, Gait disturbance, Dystonia, Spasticity ORPHA:98759
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Hypotonia, Falls, Generalized hypotonia, Dystonia, Spasticity OMIM:619224
Developmental And Epileptic Encephalopathy 17
Inability to walk, Athetosis, Dystonia OMIM:615473
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Generalized hypotonia, Dystonia OMIM:618224
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Hypotonia, Choreoathetosis, Limb dystonia OMIM:619054
Encephalopathy Due To Prosaposin Deficiency
Hypotonia, Dystonia ORPHA:139406
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Gait ataxia, Choreoathetosis, Cogwheel rigidity... ORPHA:225154
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Postural tremor, Oculogyric crisis, Rigidity, Hypotonia, Focal dyst... ORPHA:101150
Spastic Paraplegia 26, Autosomal Recessive
Lower limb spasticity, Ataxia, Spastic paraplegia, Dysmetria, Tip-toe gait, Upper limb spasticity... OMIM:609195
Intellectual Developmental Disorder, X-Linked 111
Spasticity, Unsteady gait, Dystonia OMIM:301107
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Axial hypotonia, Ataxia, Dystonia OMIM:619150
Leukodystrophy, Hypomyelinating, 6
Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Spasticity OMIM:612438
Amyotrophic Lateral Sclerosis 2, Juvenile
Lower limb spasticity, Generalized dystonia, Ataxia, Dystonia, Spastic tetraparesis, Head titubat... OMIM:205100
16P11.2P12.2 Microduplication Syndrome
Dystonia ORPHA:261204
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Dystonia ORPHA:97
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia OMIM:618924
Developmental And Epileptic Encephalopathy 53
Hypotonia, Spastic tetraplegia, Dystonia OMIM:617389
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Hypotonia, Gait disturbance, Limb dystonia, Spast... ORPHA:508093
Glut1 Deficiency Syndrome 1
Choreoathetosis, Paroxysmal dystonia, Spasticity, Ataxia OMIM:606777
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Dystonia OMIM:619065
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Difficulty walking, Dystonia OMIM:616684
Spinocerebellar Ataxia 28
Limb ataxia, Gait ataxia, Lower limb hypertonia, Dystonia, Spasticity OMIM:610246
X-Linked Dystonia-Parkinsonism
Resting tremor, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Shuffling gait, Dif... ORPHA:53351
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Falls, Rigidity, Dystonia ORPHA:240085
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Axial hypotonia, Ataxia, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia OMIM:615905
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
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Inability to walk, Spastic paraplegia, Hypertonia, Dystonia, Neonatal hypotonia, S... OMIM:614066
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Generalized hypotonia, Dystonia, Li... OMIM:233910
Primary Dystonia, Dyt4 Type
Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, Dysdiadochokinesis,... ORPHA:98805
Aicardi-Goutieres Syndrome 3
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:610329
Leukoencephalopathy With Dystonia And Motor Neuropathy
Intention tremor, Torticollis, Head tremor, Dystonia OMIM:613724
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Rigidity, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Sho... ORPHA:391411
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Dystonia, Oral mo... ORPHA:248111
Glut1 Deficiency Syndrome 2
Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612126
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Lower limb spasticity, Ataxia, Spastic tetraparesis, Spastic paraplegia, Dysmetria, Dysdiadochoki... OMIM:612319
Spinocerebellar Ataxia Type 2
Kinetic tremor, Postural tremor, Gait ataxia, Progressive cerebellar ataxia, Generalized hypotoni... ORPHA:98756
Pontocerebellar Hypoplasia, Type 14
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619301
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
Developmental And Epileptic Encephalopathy 27
Spasticity, Axial hypotonia, Hypotonia, Dystonia OMIM:616139
Spinocerebellar Ataxia 48
Ataxia, Tremor, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Infantile Convulsions And Choreoathetosis
Choreoathetosis, Athetosis, Dystonia ORPHA:31709
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Generalized hypotonia, Difficulty walking, Dystonia ORPHA:306669
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia OMIM:300857
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Hypotonia, Choreoathetosis, Dystonia, Limb hypertonia OMIM:606703
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Hypotonia, Dystonia OMIM:619157
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Rigidity, Tremor, Dystonia OMIM:615010
Leukodystrophy, Hypomyelinating, 18
Spastic tetraplegia, Dysmetria, Progressive spasticity, Dystonia, Spasticity OMIM:618404
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation, Spasticity OMIM:611390
Hypermanganesemia With Dystonia 2
Axial hypotonia, Generalized dystonia, Dystonia, Tremor, Inability to walk, Scissor gait, Hypoton... OMIM:617013
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Progressive cerebellar ataxia, Hypotonia, Dystonia ORPHA:139485
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Facial hypotonia, Hypotonia, Spastic dysarthria, Difficulty walking, Dystonia, Spa... ORPHA:280763
Ataxia-Telangiectasia-Like Disorder 1
Lower limb spasticity, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis,... OMIM:604391
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Spastic paraparesis, Spasticity OMIM:614487
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Ataxia, Hand tremor, Dystonia OMIM:615889
Raynaud-Claes Syndrome
Lower limb spasticity, Hypotonia, Progressive cerebellar ataxia, Generalized hypotonia, Dystonia OMIM:300114
Developmental And Epileptic Encephalopathy 67
Athetosis, Gait disturbance, Dystonia OMIM:618141
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Hypotonia, Dystonia OMIM:615338
Corticobasal Syndrome
Dystonia, Akinesia, Tremor, Gait disturbance, Limb dystonia, Progressive extrapyramidal muscular ... ORPHA:454887
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Tremor, Rigidity, Choreoathetosis, Blepharospasm, Dystonia, Spasticity, L... OMIM:606159
Developmental And Epileptic Encephalopathy 44
Athetosis, Spasticity, Axial hypotonia, Dystonia OMIM:617132
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Ataxia, Hypotonia, Dystonia OMIM:620094
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Ataxia, Hypotonia, Dystonia ORPHA:382
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia, Spasticity OMIM:618238
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Unsteady gait, Spastic paraplegia, Spastic tetraplegia, Dystonia, Neonatal hypotonia OMIM:245349
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Ataxia, Tremor, Rigidity, Choreoathetosis, Hypertonia, Dystonia, Limb hypertonia OMIM:261640
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Dystonia, Neonatal hypotonia OMIM:618218
Pontocerebellar Hypoplasia, Type 15
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619302
Dystonia 28
Torticollis, Generalized dystonia, Leg dystonia, Arm dystonia, Oromandibular dystonia ORPHA:589618
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Head titubation, Inability to walk, Orom... ORPHA:300605
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dystonia, Ataxia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait ataxia, Arm dystonia... OMIM:601338
Leukodystrophy, Hypomyelinating, 21
Athetosis, Ataxia, Dystonia OMIM:619310
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Hypotonia, Dystonia, Spasticity OMIM:614254
Leber Optic Atrophy And Dystonia
Athetosis, Spasticity, Dystonia OMIM:500001
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Rigidity, Limb ataxia, Dysmetria, Gait ataxia, Dystonia, Intention tremor OMIM:607136
3-Methylglutaconic Aciduria, Type I
Ataxia, Spastic tetraplegia, Athetosis, Dystonia, Spasticity OMIM:250950
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Choreoathetosis, Hypertonia, Dystonia, Spasticity ORPHA:71277
Leukodystrophy, Hypomyelinating, 2
Axial hypotonia, Ataxia, Dystonia, Rigidity, Head titubation, Choreoathetosis, Progressive spasti... OMIM:608804
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia OMIM:614932
Spinocerebellar Ataxia Type 6
Unsteady gait, Gait ataxia, Blepharospasm, Progressive cerebellar ataxia, Dystonia, Intention tremor ORPHA:98758
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Ataxia, Head titubation, Generalized hypotonia, Difficulty walking, Progressive spasticity ORPHA:527497
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Ataxia, Dysmetria, Lower limb hypertonia, Difficulty walking, Dystonia, In... ORPHA:438114
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Choreoathetosis, Ataxia, Generalized hypotonia, Dystonia OMIM:618416
Huntington Disease-Like 3
Spasticity, Unsteady gait, Ataxia, Dystonia OMIM:604802
Lopes-Maciel-Rodan Syndrome
Axial hypotonia, Tremor, Unsteady gait, Hypertonia, Dystonia, Spasticity OMIM:617435
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia OMIM:105300
Infantile Dystonia-Parkinsonism
Axial hypotonia, Oculogyric crisis, Hypertonia, Dystonia, Limb hypertonia ORPHA:238455
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Axial hypotonia, Ataxia, Dysmetria, Dystonia, Intention tremor OMIM:616140
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Dystonia ORPHA:254881
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Spastic paraparesis, Spasticity ORPHA:313772
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia OMIM:250620
Atypical Rett Syndrome
Neonatal hypotonia, Tremor, Inability to walk, Hypotonia, Gait ataxia, Pill-rolling tremor, Abnor... ORPHA:3095
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Hypertonia, Gait disturbance, Dystonia ORPHA:96
Baralle-Macken Syndrome
Neonatal hypotonia, Inability to walk, Spasticity, Dystonia OMIM:619255
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Tremor, Inability to walk, Rigidity, Head titubation, Hypotonia, Gait ataxia, Choreoath... OMIM:618877
Spinocerebellar Ataxia 21
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cereb... OMIM:607454
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Choreoathetosis, Inability to walk, Hypotonia, Dystonia OMIM:618497
Leukodystrophy, Hypomyelinating, 20
Torticollis, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619071
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Oculogyric crisis, Tremor, Rigidity, Dystonia, Limb hypertonia ORPHA:70594
Atypical Progressive Supranuclear Palsy Syndrome
Extrapyramidal muscular rigidity, Tremor, Rigidity, Unsteady gait, Focal dystonia, Blepharospasm,... ORPHA:99750
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Hypotonia, Focal dystonia, Spastic dysarthria, Progressive gait ataxia, Loss of ... ORPHA:447757
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Oculogyric crisis, Rigidity, Hypotonia, Opisthotonus, Choreoathetosis, Hypertonia, Falls,... ORPHA:13
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Unsteady gait, Difficulty walking,... ORPHA:464282
Combined Oxidative Phosphorylation Deficiency 50
Generalized dystonia OMIM:619025
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Dysmetria, Dystonia OMIM:618317
Developmental And Epileptic Encephalopathy 86
Generalized hypotonia, Dystonia OMIM:618910
Oromandibular Dystonia
Torticollis, Generalized dystonia, Blepharospasm, Limb dystonia, Lingual dystonia, Laryngeal dyst... ORPHA:93958
Neurodevelopmental Disorder With Dystonia And Seizures
Athetosis, Spastic tetraplegia, Hypotonia, Dystonia OMIM:619922
Huntington Disease-Like 2
Rigidity, Action tremor, Dystonia OMIM:606438
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Generalized hypotonia, Dystonia OMIM:618230
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Dystonia, Spasticity, Infantile muscular hypotonia, Limb hypertonia ORPHA:500180
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Rigidity, Inability to walk, Dystonia, Spasticity OMIM:617672
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... OMIM:312080
Progressive Myoclonic Epilepsy With Dystonia
Generalized neonatal hypotonia, Dystonia ORPHA:352596
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Tremor, Rigidity, Spastic paraplegia, Hypertonia, Gait disturbance... OMIM:606693
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Rigidity, Spastic paraparesis ORPHA:329284
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Tremor, Hypertonia, Dystonia, Action tremor OMIM:619738
Peroxisomal Acyl-Coa Oxidase Deficiency
Neonatal hypotonia, Hypertonia, Hypotonia, Dystonia OMIM:264470
Kaya-Barakat-Masson Syndrome
Axial hypotonia, Spastic tetraplegia, Generalized hypotonia, Limb dystonia, Spasticity OMIM:619125
Ataxia-Telangiectasia-Like Disorder
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Generalized hypotonia, Dystonia, Intention tr... ORPHA:251347
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation, Spasticity OMIM:607694
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Rigidity, Hand tremor, Gait disturbance, Shuffling gait, Spastic paraparesis, Spasticity ORPHA:289560
Siddiqi Syndrome
Limb dystonia OMIM:618635
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Gait disturbance, Dystonia ORPHA:101006
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Rigidity, Inability to walk, Truncal titubation, Opisthotonus, Gait ataxia, Cogw... OMIM:607483
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Rigidity, Hypotonia, Blepharospasm, Athetosis, Gait disturbance, Dystonia, Loss of ambula... OMIM:617282
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Generalized hypotonia, Dystonia OMIM:618237
Dystonia-Deafness Syndrome 1
Loss of ambulation, Leg dystonia, Generalized dystonia, Oculogyric crisis OMIM:607371
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Spasticity, Dystonia, Gait ataxia OMIM:618917
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Unsteady gait, Dysmetria, Dystonia, Spasticity ORPHA:79263
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Difficulty walking, Dystonia, Progressive extrapyramidal muscular rigidity ORPHA:401768
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity OMIM:619616
Developmental And Epileptic Encephalopathy 6B
Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Choreoathetosis, Dystonia OMIM:619317
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Progressive gait ataxia, Dystonia, Spasticity ORPHA:157946
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Tremor, Rigidity, Dystonia, Spastic paraparesis OMIM:300894
Neurodevelopmental Disorder With Involuntary Movements
Athetosis, Spasticity, Generalized hypotonia, Dystonia OMIM:617493
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Dystonia ORPHA:98757
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Spastic dysarthria, Dystonia, Spasticity ORPHA:98760
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:616277
Spinocerebellar Ataxia, Autosomal Recessive 31
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia OMIM:619422
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Hypotonia, Dystonia OMIM:246900
Sulfite Oxidase Deficiency, Isolated
Axial hypotonia, Ataxia, Generalized dystonia, Choreoathetosis, Hypertonia, Generalized hypotonia... OMIM:272300
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Axial hypotonia, Ataxia, Facial hypotonia, Tremor, Spastic paraplegia, Spastic te... OMIM:300055
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Generalized hypotonia, Difficulty walking, Dystonia OMIM:611890
Leukodystrophy, Hypomyelinating, 15
Ataxia, Athetosis, Dystonia, Loss of ambulation, Spasticity, Intention tremor OMIM:617951
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Hypertonia, Difficulty walking, Dystonia ORPHA:79097
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Hypertonia, Infantile muscular hypotonia ORPHA:26792
Harel-Yoon Syndrome
Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity OMIM:617183
Foxg1 Syndrome
Inability to walk, Hypotonia, Choreoathetosis, Difficulty walking, Dystonia, Spasticity ORPHA:561854
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Gait disturbance, Dystonia OMIM:600795
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Dystonia ORPHA:289494
Developmental And Epileptic Encephalopathy 1
Axial hypotonia, Spastic tetraparesis, Choreoathetosis, Hypertonia, Dystonia OMIM:308350
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Dystonia, Spasticity, Limb hypertonia OMIM:618087
Hereditary Methemoglobinemia
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity ORPHA:621
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Loss of ambulation OMIM:208920
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Infantile muscular hypotonia ORPHA:457205
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Akinesia, Rigidity, Limb dystonia, Spasticity OMIM:616840
Spinocerebellar Ataxia Type 1
Postural tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait disturbance, ... ORPHA:98755
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Dystonia, Ataxia, Tremor, Gait apraxia, Limb ataxia, Dysmetria, Gait ataxia, Dysd... OMIM:615157
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia, Progressive ext... ORPHA:240071
Alzheimer Disease 3
Dystonia, Gait disturbance, Spastic tetraparesis, Optic ataxia OMIM:607822
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Truncal ataxia, Dystonia, Neonatal hypotonia, Spasticity OMIM:252011
Episodic Ataxia, Type 2
Episodic ataxia, Progressive cerebellar ataxia, Dystonia OMIM:108500
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Episodic ataxia OMIM:312170
Gaucher Disease Type 2
Spasticity, Dystonia ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 35
Spasticity, Generalized hypotonia, Dystonia OMIM:617873
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Axial hypotonia, Choreoathetosis, Hypertonia, Dystonia, Spasticity OMIM:618451
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Limb dystonia ORPHA:319199
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Broad-based gait, Hypertonia, Gait disturbance, Arm dystonia, Difficulty wal... ORPHA:79244
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Axial hypotonia, Hypotonia, Spastic tetraparesis, Dystonia OMIM:617668
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Mucolipidosis Iv
Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia OMIM:252650
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Tremor, Inability to walk, Focal dystonia, Shuffling gait, Dystonia, Oroman... ORPHA:52368
Gm1-Gangliosidosis, Type Iii
Ataxia, Dystonia OMIM:230650
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Cogwheel rigidity, Dystonia, Intention tremor OMIM:619725
Dentatorubral Pallidoluysian Atrophy
Ataxia, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia, Progressive cerebellar... ORPHA:101
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Dystonia, Limb hypertonia OMIM:618247
Leber Optic Atrophy
Postural tremor, Ataxia, Dystonia OMIM:535000
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Axial hypotonia, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia,... OMIM:617710
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Dystonia OMIM:304700
Ataxia-Oculomotor Apraxia Type 4
Ataxia, Dystonia ORPHA:459033
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Spasticity ORPHA:216866
Autosomal Recessive Spastic Paraplegia Type 78
Progressive cerebellar ataxia, Progressive gait ataxia, Progressive spastic quadriplegia, Difficu... ORPHA:513436
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Hypotonia, Generalized hypotonia, Dystonia, Spasticity OMIM:614739
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Loss of ambulation, Gait disturbance, Dystonia OMIM:167320
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Generalized hypotonia, Dystonia OMIM:613970
Pyruvate Dehydrogenase Deficiency
Ataxia, Tremor, Hypotonia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity ORPHA:765
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
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Hypertonia, Gait disturbance, Dystonia ORPHA:306682
Coenzyme Q10 Deficiency, Primary, 5
Hypertonia, Hypotonia, Generalized hypotonia, Dystonia OMIM:614654
Hypermanganesemia With Dystonia 1
Tremor, Rigidity, Steppage gait, Dystonia, Spastic paraparesis OMIM:613280
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Rigidity, Gait disturbance, Shuffling gait, Dystonia, Loss of ambulation OMIM:168601
Perry Syndrome
Akinesia, Tremor, Rigidity, Dystonia, Short stepped shuffling gait OMIM:168605
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Spasticity, Intention tremor OMIM:614381
Pontocerebellar Hypoplasia, Type 9
Axial hypotonia, Facial hypotonia, Hypertonia, Dystonia, Spasticity OMIM:615809
Mitochondrial Complex I Deficiency, Nuclear Type 5
Axial hypotonia, Ataxia, Hypotonia, Generalized hypotonia, Dystonia OMIM:618226
Neuroferritinopathy
Resting tremor, Writer's cramp, Leg dystonia, Focal dystonia, Blepharospasm, Arm dystonia, Diffic... ORPHA:157846
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Ataxia, Choreoathetosis, Gait imbalance, Head tremor, Dystonia ORPHA:64753
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity OMIM:617854
Parkinson Disease 20, Early-Onset
Tremor, Rigidity, Gait disturbance, Shuffling gait, Dystonia, Short stepped shuffling gait OMIM:615530
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Falls, Dystonia ORPHA:683
Hengel-Maroofian-Schols Syndrome
Inability to walk, Hypotonia, Gait imbalance, Dystonia, Spasticity OMIM:619641
Lipoyltransferase 1 Deficiency
Axial hypotonia, Hypotonia, Spastic tetraparesis, Dystonia OMIM:616299
Parkinson Disease, Late-Onset
Resting tremor, Tremor, Rigidity, Dystonia, Short stepped shuffling gait OMIM:168600
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Hypotonia, Truncal ataxia, Generalized hypotonia, Dystonia, Intention tremor OMIM:614407
Ataxia With Vitamin E Deficiency
Ataxia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait disturbance, Dystonia OMIM:277460
Friedreich Ataxia
Inability to walk, Limb ataxia, Dysmetria, Gait ataxia, Falls, Gait imbalance, Dystonia, Spastici... ORPHA:95
Allan-Herndon-Dudley Syndrome
Axial hypotonia, Ataxia, Spastic tetraplegia, Choreoathetosis, Dystonia, Neonatal hypotonia, Spas... ORPHA:59
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Inability to walk, Hypotonia, Generalized hypotonia, Spasticity ORPHA:70472
Developmental And Epileptic Encephalopathy 38
Dystonia, Axial hypotonia, Ataxia, Limb hypertonia OMIM:617020
Leigh Syndrome
Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity OMIM:256000
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Ataxia, Dysmetria, Spastic dysarthria, Dystonia, Spasticity, Intention tremor ORPHA:447896
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Spasticity, Dystonia OMIM:607236
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Rigidity, Limb ataxia, Gait at... ORPHA:227510
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Spasticity, Ataxia, Dystonia OMIM:617341
Liang-Wang Syndrome
Axial hypotonia, Ataxia, Dystonia OMIM:618729
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... ORPHA:102
Progressive Supranuclear Palsy-Corticobasal Syndrome
Tremor, Rigidity, Progressive extrapyramidal muscular rigidity, Focal dystonia ORPHA:240103
Pelizaeus-Merzbacher Disease
Ataxia, Hypotonia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity ORPHA:702
Deafness, Dystonia, And Cerebral Hypomyelination
Dystonia OMIM:300475
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Scis... ORPHA:466722
Glutaric Acidemia I
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... OMIM:231670
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Hypotonia, Choreoathetosis, Dystonia, Spasticity OMIM:616034
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Tremor, Oromandibular dystonia, Gait disturbance, Dystonia, Loss of... OMIM:614298
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Ataxia, Postural tremor, Rigidity, Focal dystonia, Gait ataxia... ORPHA:98808
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Hypotonia, Generalized hypotonia, Dystonia OMIM:617268
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Progressive extrapyramidal muscular rigidity, Titubation, Gait ataxia, ... ORPHA:225147
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Tremor, Spastic diplegia, Generalized hypotonia, Dystonia ORPHA:480907
Combined Oxidative Phosphorylation Defect Type 13
Axial hypotonia, Choreoathetosis, Lower limb hypertonia, Generalized hypotonia, Limb dystonia ORPHA:319514
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Hypotonia, Dystonia ORPHA:289916
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... ORPHA:98933
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Limb tremor, Chore... OMIM:608643
Bilateral Generalized Polymicrogyria
Axial hypotonia, Oculogyric crisis, Spastic tetraplegia, Dystonia, Spasticity ORPHA:208447
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Hypotonia, Hypertonia, Gener... OMIM:272750
Posttransplant Acute Limbic Encephalitis
Ataxia, Dystonia ORPHA:163921
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ... OMIM:617988
Continuous Spikes And Waves During Sleep
Dystonia ORPHA:725
Christianson Syndrome
Dystonia, Truncal ataxia, Gait ataxia ORPHA:85278
Huntington Disease
Rigidity, Inability to walk, Gait disturbance, Gait imbalance, Difficulty walking, Dystonia ORPHA:399
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Head titubation, Dystonia, Hypotonia, Truncal ataxia ORPHA:88639
Metachromatic Leukodystrophy
Ataxia, Hypotonia, Spastic tetraplegia, Gait disturbance, Generalized hypotonia, Dystonia OMIM:250100
X-Linked Creatine Transporter Deficiency
Ataxia, Hypotonia, Athetosis, Hypertonia, Dystonia ORPHA:52503
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Upper limb postural tremor, Tremor, Rigidity, Hand tremor, Pill-r... OMIM:612953
Classic Galactosemia
Postural tremor, Ataxia, Gait disturbance, Gait imbalance, Dystonia, Action tremor ORPHA:79239
Infantile Neuroaxonal Dystrophy
Axial hypotonia, Ataxia, Spastic tetraparesis, Unsteady gait, Gait disturbance, Progressive spast... ORPHA:35069
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Choreoathetosis, Lower limb hypertonia, Upper limb hypertonia, Infantile axi... ORPHA:2524
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Hypotonia, Dystonia, Limb hypertonia OMIM:618004
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Tremor, Gait ataxia, Limb dystonia, Spasticity ORPHA:363400
Aceruloplasminemia
Torticollis, Ataxia, Akinesia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Blepharospasm, Dystoni... ORPHA:48818
Machado-Joseph Disease
Dystonia, Ataxia, Rigidity, Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Spasticity OMIM:109150
Combined Malonic And Methylmalonic Acidemia
Axial hypotonia, Dystonia ORPHA:289504
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Spastic tetraparesis, Dystonia ORPHA:404451
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Hypotonia, Dystonia ORPHA:79312
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Hypotonia, Dystonia ORPHA:439218
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia, Ne... ORPHA:431361
Birk-Landau-Perez Syndrome
Axial hypotonia, Facial hypotonia, Limb ataxia, Choreoathetosis, Appendicular hypotonia, Difficul... OMIM:617595
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Decerebrate rigidity, Generalized hypotonia, ... ORPHA:309256
Aicardi-Goutieres Syndrome 4
Spasticity, Dystonia OMIM:610333
Ataxia-Oculomotor Apraxia 4
Ataxia, Dystonia OMIM:616267
Dystonia-Aphonia Syndrome
Oromandibular dystonia, Unsteady gait, Gait disturbance, Generalized dystonia ORPHA:412217
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Loss of ability to walk in early childhood, Inability to walk, Hypotonia, Athetosis, Dystonia, Sp... OMIM:612073
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Hypotonia, Spastic diplegia, Choreoathetosis, Dystonia, Loss of ambulation ORPHA:391428
Gm2 Gangliosidosis, Ab Variant
Infantile axial hypotonia, Progressive spastic quadriplegia, Exaggerated startle response, Dystonia ORPHA:309246
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Generalized dystonia OMIM:618235
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Progressive spastic paraparesis, Progressive spastic quadriplegia, Progress... ORPHA:329308
Myopathy With Extrapyramidal Signs
Ataxia, Tremor, Hypotonia, Choreoathetosis, Difficulty walking, Dystonia OMIM:615673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Dystonia, Rigidity, Limb ataxia, Gait ataxia, Steppage gait, Truncal ataxia, Intention tremor OMIM:258450
Rett Syndrome
Gait apraxia, Truncal ataxia, Gait ataxia, Dystonia, Spasticity OMIM:312750
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Progressive cerebellar ataxia, Dystonia OMIM:618868
Leukodystrophy, Progressive, Early Childhood-Onset
Appendicular spasticity, Axial hypotonia, Dystonia OMIM:617762
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Spasticity, Axial hypotonia, Limb dystonia OMIM:616339
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Rigidity, Leg dystonia, Choreoathetosis, Tip-toe gait, Gait disturbance, Limb dystonia,... ORPHA:157850
Niemann-Pick Disease, Type C1
Ataxia, Hypotonia, Gait ataxia, Generalized hypotonia, Dystonia, Spasticity OMIM:257220
Parkinsonian-Pyramidal Syndrome
Rigidity, Shuffling gait, Dystonia, Spasticity, Intention tremor ORPHA:171695
Combined Oxidative Phosphorylation Deficiency 10
Spasticity, Hypotonia, Dystonia OMIM:614702
Pontocerebellar Hypoplasia, Type 2B
Axial hypotonia, Hypotonia, Opisthotonus, Dystonia, Spasticity, Limb hypertonia OMIM:612389
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Ataxia, Hypotonia, Dystonia ORPHA:79243
Developmental And Epileptic Encephalopathy 84
Axial hypotonia, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity OMIM:618792
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Gait disturbance, Dystonia OMIM:617903
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Spasticity, Hypotonia, Dystonia OMIM:619286
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Dystonia, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Difficulty... OMIM:610978
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Axial hypotonia, Hypotonia, Hypertonia, Gait disturbance, Dystonia, Neonatal hy... OMIM:300352
Isolated Atp Synthase Deficiency
Spastic paraplegia, Ataxia, Hypotonia, Dystonia ORPHA:254913
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Inability to walk, Hypotonia, Athetosis, Dystonia, Spasticity ORPHA:357058
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia OMIM:277410
Developmental And Epileptic Encephalopathy 51
Inability to walk, Hypotonia, Dystonia OMIM:617339
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Gait ataxia, Dysdiadochokinesis, Hypertonia, Dystonia, Spasticity, Intention tremor OMIM:610217
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Akinesia, Rigidity, Cogwheel rigidity, Tremor by anatomical site ORPHA:97349
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetraplegia, Dystonia ORPHA:3240
Filippi Syndrome
Dystonia OMIM:272440
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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Hypotonia, Athetosis, Difficulty walk... OMIM:615356
Young-Onset Parkinson Disease
Tremor, Rigidity, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Severe muscular hypotonia, Tremor, Rigidity, Athetosis, Limb dystonia ORPHA:25
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Decerebrate rigidity, Generalized hypotonia, Dystonia, Spasticity, Inten... ORPHA:309263
Lesch-Nyhan Syndrome
Hypotonia, Opisthotonus, Choreoathetosis, Dystonia, Spasticity OMIM:300322
Rett Syndrome
Inability to walk, Gait disturbance, Difficulty walking, Dystonia, Infantile muscular hypotonia ORPHA:778
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Axial hypotonia, Limb dystonia OMIM:620269
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Dystonia, Neonatal hypotonia, Spasticity OMIM:616271
Alg3-Cdg
Hypertonia, Hypotonia, Spastic tetraparesis, Dystonia ORPHA:79321
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Spastic paraplegia OMIM:619026
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Tremor, Unsteady gait, Hypotonia, Gait disturbance, Decerebrate rig... ORPHA:354
Intellectual Developmental Disorder, Autosomal Dominant 43
Ataxia, Hypotonia, Dystonia OMIM:616977
Machado-Joseph Disease Type 1
Progressive cerebellar ataxia, Progressive gait ataxia, Spasticity, Dystonia ORPHA:276238
Machado-Joseph Disease Type 2
Progressive cerebellar ataxia, Progressive gait ataxia, Spasticity, Dystonia ORPHA:276241
Choreoacanthocytosis
Progressive choreoathetosis, Dystonia OMIM:200150
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia ORPHA:1929
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Difficulty walking, Limb dystonia, Inf... ORPHA:572798
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Limb hypertonia OMIM:619909
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Axial hypotonia, Ataxia, Spastic tetraplegia, Gait ataxia, Dystonia OMIM:618321
Metachromatic Leukodystrophy, Adult Form
Dystonia, Progressive spastic quadriplegia, Progressive gait ataxia, Decerebrate rigidity, Genera... ORPHA:309271
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetria, Gait disturbance, D... ORPHA:845
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Hypotonia, Spastic tetraplegia, Opisthotonus, Hypertonia, Limb dystonia, Spasticity OMIM:619847
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Dystonia OMIM:616113
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Dystonia, Axial hypotonia, Generalized hypotonia, Limb hypertonia OMIM:616875
Mitochondrial Complex I Deficiency, Nuclear Type 2
Falls, Hypotonia, Difficulty walking, Dystonia OMIM:618222
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Gait disturbance, Generalized hypoton... OMIM:616878
Cimdag Syndrome
Spasticity, Ataxia, Hypotonia, Dystonia OMIM:619273
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Dysdiadochokinesis, Hypertonia, Gait disturbance, Difficulty walking, Truncal... ORPHA:309854
Congenital Disorder Of Glycosylation, Type Ii
Generalized hypotonia, Dystonia OMIM:607906
Coach Syndrome 1
Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity OMIM:216360
Caribbean Parkinsonism
Rigidity, Progressive gait ataxia, Action tremor, Dystonia ORPHA:97355
Wieacker-Wolff Syndrome
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:314580
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Severe muscular hypotonia, Hypotonia, Opisthotonus OMIM:616672
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Tremor, Rigidity, Falls, Gait imbalance, Retrocollis, Limb dystonia OMIM:601104
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Generalized dystonia, Spastic tetraparesis, Dystonia OMIM:620358
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Akinesia, Rigidity, Falls, Gait imbalance, Retrocollis OMIM:609454
Metachromatic Leukodystrophy
Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive spasticity, Dys... ORPHA:512
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Ataxia, Dystonia, Neonatal hypotonia, Action tremor ORPHA:66634
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Axial hypotonia, Dystonia OMIM:617669
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Dystonia ORPHA:453533
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Progressive gait ataxia, Spasticity, Dystonia ORPHA:276244
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Inability to walk, Spastic tetraplegia, Spastic diplegia, Dystonia, ... ORPHA:300570
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ataxia, Hypotonia, Dystonia OMIM:619167
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head tremor, Dystonia OMIM:606002
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypotonia, Dystonia OMIM:614105
Hereditary Late-Onset Parkinson Disease
Resting tremor, Akinesia, Rigidity, Shuffling gait, Dystonia ORPHA:411602
Propionic Acidemia
Dystonia, Axial hypotonia, Limb hypertonia OMIM:606054
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Dystonia OMIM:618186
Triosephosphate Isomerase Deficiency
Tremor, Unsteady gait, Hypotonia, Generalized hypotonia, Dystonia, Spasticity OMIM:615512
Aicardi-Goutieres Syndrome 1
Inability to walk, Spasticity, Axial hypotonia, Dystonia OMIM:225750
Nabais Sa-De Vries Syndrome, Type 2
Neonatal hypotonia, Dystonia OMIM:618829
Pontocerebellar Hypoplasia, Type 2A
Dystonia, Opisthotonus OMIM:277470
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Spastic paraplegia, Dysmetria,... ORPHA:171629
Combined Oxidative Phosphorylation Deficiency 29
Spasticity, Generalized hypotonia, Dystonia OMIM:616811
Pseudo-Torch Syndrome 1
Spasticity, Axial hypotonia, Hypotonia, Dystonia OMIM:251290
Marbach-Schaaf Neurodevelopmental Syndrome
Tremor, Neonatal hypotonia, Torticollis, Hemidystonia OMIM:619680
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb dystonia, Inability to walk, Infantile muscular hypotonia, Neonatal hypotonia, Spasticity, L... ORPHA:457351
Aicardi-Goutieres Syndrome 9
Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Lower limb hyperton... OMIM:619487
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Tremor, Axial hypotonia, Oculogyric crisis, Hypertonia ORPHA:1578
Rett Syndrome, Congenital Variant
Athetosis, Generalized hypotonia, Dystonia, Neonatal hypotonia, Spasticity OMIM:613454
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Axial hypotonia, Dystonia ORPHA:500144
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Inability to walk, Ataxia, Hypotonia, Dystonia OMIM:617804
Blepharonasofacial Malformation Syndrome
Torsion dystonia ORPHA:1252
Adult-Onset Dystonia-Parkinsonism
Tremor, Rigidity, Focal dystonia, Dystonia, Spasticity ORPHA:199351
Combined Oxidative Phosphorylation Deficiency 57
Hypotonia, Dystonia OMIM:620167
Combined Oxidative Phosphorylation Deficiency 12
Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Neonatal hypotonia OMIM:614924
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Tremor, Rigidity, Choreoathetosis, Blepharospasm, Gait disturbance, Dystonia, S... OMIM:234200
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Choreoathetosis, Progressive cerebellar ataxia, Dysdiadochokin... OMIM:208900
Niemann-Pick Disease, Type C2
Spasticity, Ataxia, Hypotonia, Dystonia OMIM:607625
Beta-Ureidopropionase Deficiency
Neonatal hypotonia, Hypotonia, Dystonia OMIM:613161
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Dysmetria, Dystonia, Intention tremor OMIM:619708
Filippi Syndrome
Spasticity, Hypotonia, Limb dystonia ORPHA:3255
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Choreoathetosis, Ataxia, Hypotonia, Dystonia OMIM:615471
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Progressive spasticity, Dystonia, Spasticity, Infantile muscular hypotonia ORPHA:496641
Monosomy 18P
Generalized dystonia, Hypotonia ORPHA:1598
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Dystonia OMIM:617557
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Tremor, Spastic diplegia, Gait disturbance, Gait imbalance, Generalized hypotonia, Dyston... OMIM:300966
Neurodevelopmental Disorder With Spasticity And Poor Growth
Axial hypotonia, Ataxia, Generalized dystonia, Opisthotonus, Limb hypertonia, Spasticity, Intenti... OMIM:618076
Lipoid Proteinosis
Dystonia ORPHA:530
Mercury Poisoning
Tremor, Dystonia ORPHA:330021
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Hypotonia, Progressive spastic quadriplegia, Dystonia, Li... ORPHA:521426
Cadds
Dystonia ORPHA:369942
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia ORPHA:79107
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypotonia, Limb dystonia OMIM:604377
Brain-Lung-Thyroid Syndrome
Ataxia, Choreoathetosis, Falls, Dystonia, Infantile muscular hypotonia, Intention tremor ORPHA:209905
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Tremor, Hypotonia, Generalized hypotonia, Dystonia, Neonatal hypotonia OMIM:610505
Hermansky-Pudlak Syndrome 10
Axial hypotonia, Generalized hypotonia, Dystonia OMIM:617050
Japanese Encephalitis
Tremor, Cogwheel rigidity, Choreoathetosis, Opisthotonus, Pill-rolling tremor, Hypertonia, Dystonia ORPHA:79139
Leigh Syndrome
Dystonia, Ataxia, Spastic diplegia, Choreoathetosis, Athetosis, Infantile muscular hypotonia, Spa... ORPHA:506
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Dystonia ORPHA:261197
Galloway-Mowat Syndrome 1
Axial hypotonia, Ataxia, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity OMIM:251300
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypertonia, Ataxia, Dystonia ORPHA:480864
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Decerebrate rigidity, Dystonia, Spasticity, Infantile muscular hypo... ORPHA:79255
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal hypotonia, Dystonia ORPHA:457193
Alternating Hemiplegia Of Childhood
Facial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia ORPHA:2131
Developmental And Epileptic Encephalopathy 89
Spasticity, Hypertonia, Axial hypotonia, Dystonia OMIM:619124
Combined Oxidative Phosphorylation Deficiency 39
Spasticity, Dystonia OMIM:618397
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Tremor, Spasticity, Ataxia, Dystonia OMIM:612199
Arthrogryposis Multiplex Congenita 5
Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia OMIM:618947
Kufor-Rakeb Syndrome
Oculogyric crisis, Rigidity, Blepharospasm, Hypertonia, Gait disturbance, Difficulty walking, Lin... ORPHA:306674
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Hypotonia, Dysdiadochokinesis, Dystonia OMIM:618891
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Gait ataxia, Hypertonia, Dystonia, Spasticity, Infantile muscular hypotonia ORPHA:255210
Chromosome 18P Deletion Syndrome
Hypotonia, Dystonia OMIM:146390
Fucosidosis
Spastic tetraplegia, Hypotonia, Spastic gait, Dystonia OMIM:230000
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia ORPHA:79233
Pyruvate Carboxylase Deficiency
Ataxia, Tremor, Hypotonia, Tip-toe gait, Generalized hypotonia, Dystonia ORPHA:3008
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia ORPHA:98784
Niemann-Pick Disease Type C
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Tremor, Hypotonia, Progressive gait atax... ORPHA:646
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Inability to walk, Hypotonia, Dystonia, Infantile axial hypotonia, Limb hypertonia OMIM:616973
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Spastic tetraplegia, Hyperto... ORPHA:51
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Ataxia, Hypotonia, Dystonia, Loss of ambulation OMIM:256810
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Choreoathetosis, Dystonia, Ataxia, Infantile muscular hypotonia ORPHA:522077
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:620024
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Inability to walk, Ataxia, Hypotonia, Dystonia OMIM:620083
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Lower limb spasticity, Axial hypotonia, Ataxia, Dystonia, Spastic tetraplegia, Hypotonia, Spastic... OMIM:619950
Mcleod Syndrome
Dystonia OMIM:300842
Slc39A8-Cdg
Inability to walk, Severe muscular hypotonia, Dystonia ORPHA:468699
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Unsteady gait, Choreoathetosis, Hypertonia, Dystonia, Infantile muscular hypotonia ORPHA:17
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Isometric tremor, Ataxia, Torticollis, Head titubation, Spastic tetraplegia, Hy... OMIM:619475
Early Infantile Epileptic Encephalopathy
Tremor, Choreoathetosis, Dystonia, Episodic ataxia, Spasticity, Infantile muscular hypotonia ORPHA:1934
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Facial hypotonia, Inability to walk, Athetosis, Dystonia, Lingual dystonia, Action tremor ORPHA:404454
Aicardi-Goutieres Syndrome 7
Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Hypertonia, Generalized ... OMIM:615846
Mogs-Cdg
Dystonia, Infantile muscular hypotonia ORPHA:79330
Wilson Disease
Limb dystonia, Tremor, Rigidity, Hand tremor, Dystonia OMIM:277900
Cerebrotendinous Xanthomatosis
Resting tremor, Dystonia, Ataxia, Gait disturbance, Spastic paraparesis, Spasticity ORPHA:909
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypotonia, Hypertonia, Generalized hypotonia, Dystonia OMIM:617248
Idiopathic Camptocormia
Dystonia ORPHA:1320
Arboleda-Tham Syndrome
Axial hypotonia, Hypotonia, Lower limb hypertonia, Gait imbalance, Generalized hypotonia, Dystoni... OMIM:616268
Nmda Receptor Encephalitis
Oculogyric crisis, Rigidity, Opisthotonus, Choreoathetosis, Dystonia ORPHA:217253
Choreoacanthocytosis
Resting tremor, Head titubation, Oromandibular dystonia, Blepharospasm, Hypertonia, Falls, Limb d... ORPHA:2388
Holoprosencephaly
Spasticity, Hypotonia, Dystonia ORPHA:2162
Orofaciodigital Syndrome Type 1
Tremor, Ataxia, Dystonia ORPHA:2750
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Tremor, Hypotonia, Dysmetria, Truncal ataxia, Spasticity OMIM:220111
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Dystonia ORPHA:506358
Neuroleptic Malignant Syndrome
Tremor, Extrapyramidal muscular rigidity, Oculogyric crisis ORPHA:94093
Woodhouse-Sakati Syndrome
Choreoathetosis, Dystonia OMIM:241080
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Axial hypotonia, Dystonia OMIM:618278
Semilobar Holoprosencephaly
Limb dystonia, Inability to walk, Infantile muscular hypotonia, Infantile axial hypotonia, Spasti... ORPHA:220386
Alobar Holoprosencephaly
Limb dystonia, Inability to walk, Infantile muscular hypotonia, Infantile axial hypotonia, Spasti... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Limb dystonia, Inability to walk, Infantile muscular hypotonia, Infantile axial hypotonia, Spasti... ORPHA:93926
Lobar Holoprosencephaly
Limb dystonia, Inability to walk, Infantile muscular hypotonia, Infantile axial hypotonia, Spasti... ORPHA:93924
Legius Syndrome
Hypotonia, Dystonia ORPHA:137605
Woodhouse-Sakati Syndrome
Choreoathetosis, Dystonia ORPHA:3464
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Inability to walk, Dystonia, Infantile muscular h... ORPHA:438213
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Hypotonia, Dystonia OMIM:620330
Autosomal Recessive Cutis Laxa Type 1
Dystonia ORPHA:90349
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
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 Vps16

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 Vps16.

No publications found that use IMPC mice or data for Vps16.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Vps16tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Vps16tm111237(L1L2_Pgk_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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