Gene: Vps16 MGI:2136772

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.

Human diseases associated with Vps16 (1 diseases)
Human diseases predicted to be associated with Vps16 (603 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Dystonia 30		Arm dystonia, Leg dystonia, Loss of ambulation, Oromandibular dystonia, Torticollis, Dystonia, Wr...	OMIM:619291

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

Disease	Matching phenotypes	Source
Autosomal Dominant Focal Dystonia, Dyt25 Type	Laryngeal dystonia, Limb dystonia, Axial dystonia, Craniofacial dystonia, Lingual dystonia, Torti...	ORPHA:329466
Dystonia 25	Limb dystonia, Lingual dystonia, Torticollis, Laryngeal dystonia	OMIM:615073
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Difficulty walking, Spastic paraplegia, Dystonia, Laryngeal dystonia	OMIM:619681
Primary Dystonia, Dyt17 Type	Craniofacial dystonia, Generalized dystonia, Torticollis	ORPHA:370103
Dystonia 17, Torsion, Autosomal Recessive	Focal dystonia, Torticollis	OMIM:612406
Dystonia 22, Adult-Onset	Upper limb postural tremor, Retrocollis, Gait disturbance, Torticollis, Focal dystonia	OMIM:620456
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Dystonia 6, Torsion	Laryngeal dystonia, Limb dystonia, Lingual dystonia, Torticollis, Writer's cramp, Torsion dystoni...	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
Dystonia 4, Torsion, Autosomal Dominant	Hemidystonia, Generalized dystonia, Limb dystonia, Gait ataxia, Torticollis, Torsion dystonia	OMIM:128101
Episodic Kinesigenic Dyskinesia 3	Dystonia, Choreoathetosis, Torticollis	OMIM:620245
Dystonia 33	Spasticity, Limb dystonia, Axial dystonia, Dystonia, Axial hypotonia	OMIM:619687
Dystonia With Cerebellar Atrophy	Dystonia, Craniofacial dystonia, Torticollis, Progressive cerebellar ataxia	OMIM:611694
Paroxysmal Nonkinesigenic Dyskinesia 2	Paroxysmal dystonia	OMIM:611147
Primary Dystonia, Dyt21 Type	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Axial dystonia, Paroxysma...	ORPHA:306734
Dystonia 30	Arm dystonia, Leg dystonia, Loss of ambulation, Oromandibular dystonia, Torticollis, Dystonia, Wr...	OMIM:619291
Primary Dystonia, Dyt6 Type	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Craniofacial dystonia, Li...	ORPHA:98806
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal choreoathetosis, Paroxysmal dystonia, Torticollis	OMIM:118800
Primary Dystonia, Dyt13 Type	Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci...	ORPHA:98807
Dystonia 15, Myoclonic	Dystonia, Writer's cramp	OMIM:607488
Dystonia 23	Head tremor, Limb dystonia, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp	OMIM:614860
Dystonia 31	Arm dystonia, Generalized dystonia, Difficulty walking, Leg dystonia, Craniofacial dystonia, Writ...	OMIM:619565
Autosomal Recessive Spastic Paraplegia Type 56	Spastic paraplegia, Tip-toe gait, Dystonia, Spastic gait, Unsteady gait	ORPHA:320411
Dystonia 32	Limb dystonia, Torticollis, Laryngeal dystonia	OMIM:619637
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Dystonia, Spastic paraplegia, Unsteady gait, Tip-toe gait	OMIM:615030
Blepharonasofacial Malformation Syndrome	Torsion dystonia	OMIM:110050
Episodic Kinesigenic Dyskinesia 1	Paroxysmal choreoathetosis, Paroxysmal dystonia	OMIM:128200
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Dystonia, Spasticity, Gait disturbance, Spastic tetraparesis	OMIM:620515
Striatonigral Degeneration, Childhood-Onset	Hypotonia, Loss of ambulation, Dystonia, Craniofacial dystonia, Steppage gait, Hypertonia, Unstea...	OMIM:617054
Epilepsy, Nocturnal Frontal Lobe, 4	Dystonia	OMIM:610353
Primary Dystonia, Dyt2 Type	Blepharospasm, Generalized dystonia, Difficulty walking, Limb dystonia, Tremor, Torticollis, Tors...	ORPHA:99657
Megalencephalic Leukoencephalopathy With Subcortical Cysts 3	Spasticity, Limb ataxia, Rigidity, Loss of ambulation, Lower limb spasticity, Dystonia, Upper lim...	OMIM:620447
Spastic Paraplegia 87, Autosomal Recessive	Spastic gait, Dystonia, Lower limb spasticity, Upper limb spasticity	OMIM:619966
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Tremor, Gait disturbance, Ataxia, Dystonia	OMIM:614561
Dyschromatosis Symmetrica Hereditaria	Torsion dystonia	ORPHA:41
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Dystonia, Spastic tetraplegia	OMIM:618646
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Tremor, Torticollis, Ataxia, Dystonia, Axial hypotonia	OMIM:618425
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Tremor, Craniofacial dystonia, Gait di...	OMIM:617284
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Dystonia 22, Juvenile-Onset	Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lower limb spasticity, T...	OMIM:620453
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Spastic gait, Dystonia, Cogwheel rigidity, Hypertonia	OMIM:618284
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Difficulty walking, Dystonia, Rigidity	OMIM:619661
Developmental And Epileptic Encephalopathy 7	Dystonia, Hypotonia, Spastic tetraparesis	OMIM:613720
Myoclonus, Familial, 2	Dystonia	OMIM:618364
Spastic Ataxia 1, Autosomal Dominant	Dystonia, Spastic paraplegia, Spastic ataxia, Gait disturbance	OMIM:108600
Sandhoff Disease, Adult Form	Spasticity, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Dystonia, Spasticity, Gait ataxia, Rigidity	OMIM:620448
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, Oculogyric crisis, Generalized hypotonia, Limb hypertonia, Hypertonia, Dystonia...	OMIM:617384
Striatonigral Degeneration, Infantile	Dystonia, Spasticity, Choreoathetosis	OMIM:271930
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibular dystonia	OMIM:602124
Myoclonus-Dystonia Syndrome	Dystonia, Torticollis, Writer's cramp	ORPHA:36899
Paroxysmal Kinesigenic Dyskinesia	Dystonia, Athetosis, Writer's cramp	ORPHA:98809
Dystonia 11, Myoclonic	Hypotonia, Writer's cramp, Tremor, Torticollis	OMIM:159900
Alternating Hemiplegia Of Childhood 1	Dystonia, Choreoathetosis	OMIM:104290
Spinocerebellar Ataxia Type 11	Difficulty walking, Dystonia, Gait imbalance, Progressive cerebellar ataxia	ORPHA:98767
Dystonia 16	Unsteady gait, Limb dystonia, Postural tremor, Torticollis	ORPHA:210571
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Inability to walk, Ataxia, Dystonia, Athetosis, Axial hypotonia	OMIM:615159
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Kinetic tremor	ORPHA:101109
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spasticity, Gait ataxia, Dysmetria, Spastic ataxia, Dystonia, Spastic dysarthria, Progressive cer...	ORPHA:314603
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Dystonia, Generalized hypotonia	OMIM:616763
Segawa Syndrome, Autosomal Recessive	Limb dystonia, Gait ataxia, Tremor, Rigidity, Axial hypotonia	OMIM:605407
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Spastic ataxia, Lower limb spasticit...	ORPHA:251282
Dystonia 21	Blepharospasm, Torticollis, Laryngeal dystonia	OMIM:614588
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Axial hypotonia, Tremor	OMIM:619647
Developmental And Epileptic Encephalopathy 92	Spasticity, Difficulty walking, Inability to walk, Ataxia, Dystonia	OMIM:617829
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigidity, Torticollis, Writer'...	OMIM:128230
Oxoglutarate Dehydrogenase Deficiency	Falls, Hypotonia, Gait ataxia, Dysmetria, Rigidity, Dystonia, Unsteady gait	OMIM:203740
Dystonia 26, Myoclonic	Blepharospasm, Dystonia, Torticollis, Laryngeal dystonia	OMIM:616398
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Parkinson Disease 19A, Juvenile-Onset	Shuffling gait, Spasticity, Pill-rolling tremor, Rigidity, Loss of ambulation, Limb hypertonia, D...	OMIM:615528
Dentatorubral-Pallidoluysian Atrophy	Dystonia, Choreoathetosis, Ataxia	OMIM:125370
Spinocerebellar Ataxia 12	Head tremor, Action tremor, Dysmetria, Axial dystonia, Dysdiadochokinesis, Progressive cerebellar...	OMIM:604326
Spastic Paraplegia 80, Autosomal Dominant	Spastic paraplegia, Limb ataxia, Gait disturbance, Lower limb spasticity, Dystonia, Upper limb sp...	OMIM:618418
Dystonia 12	Dystonia, Unsteady gait, Tremor, Torticollis	OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 29	Generalized dystonia, Inability to walk, Hypotonia, Lower limb spasticity, Ataxia, Axial hypotonia	OMIM:619389
Neurodegeneration With Brain Iron Accumulation 7	Hypotonia, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Axial ...	OMIM:617916
3-Methylglutaconic Aciduria Type 1	Dystonia, Spastic tetraparesis, Progressive cerebellar ataxia	ORPHA:67046
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Torticollis, Oromandibular...	ORPHA:420485
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Torsion dystonia, Dystonia, Choreoathetosis	ORPHA:98811
Dystonia 37, Early-Onset, With Striatal Lesions	Generalized dystonia, Hypotonia, Leg dystonia, Loss of ambulation, Ataxia, Choreoathetosis	OMIM:620427
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal choreoathetosis, Paroxysmal dystonia	OMIM:602066
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Dystonia, Rigidity, Tremor, Ataxia	ORPHA:401901
Dystonia 3, Torsion, X-Linked	Torsion dystonia, Tremor	OMIM:314250
Paroxysmal Non-Kinesigenic Dyskinesia	Dystonia, Choreoathetosis, Torticollis, Rigidity	ORPHA:98810
Cerebellar Ataxia, Cayman Type	Broad-based gait, Hypotonia, Gait ataxia, Ataxia, Truncal ataxia, Dystonia, Intention tremor	OMIM:601238
Episodic Kinesigenic Dyskinesia 2	Dystonia	OMIM:611031
Alternating Hemiplegia Of Childhood 2	Dystonia, Choreoathetosis, Ataxia	OMIM:614820
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Dystonia, Spasticity, Choreoathetosis, Axial hypotonia	OMIM:614249
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturbance, Oromandibular dystonia, Dystonia, ...	OMIM:615643
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Hypotonia, Tremor, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:599373
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Head tremor, Axial dystonia, Craniofacial dystonia, Limb tremor, Torticollis,...	ORPHA:420492
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Dystonia, Choreoathetosis, Episodic ataxia	ORPHA:53583
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Dystonia, Spastic tetraplegia, Axial hypotonia	OMIM:251280
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Dystonia, Ataxia	OMIM:619196
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Hypotonia, Limb ataxia, Gait ataxia, Appendicular hypotonia, Dysmetria, Dystoni...	OMIM:616127
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Limb hypertonia, Dystonia, Axial hypotonia	ORPHA:324588
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Generalized hypotonia, Limb dystonia, Gait ataxia, Craniofacial dystonia, Tortico...	ORPHA:71517
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Rigidity, Scissor gait, Lower limb spasticity, Dystonia	OMIM:260300
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Spasticity, Episodic ataxia, Difficulty walking, Hypotonia, Gait ataxia, Gait disturbance, Lower ...	OMIM:614458
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Infantile axial hypotonia, Tremor, Loss of ambulation, Scissor gait, Oromandibular dy...	ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Gait ataxia, Tremor, Torticollis, Ataxia, Dystonia, Axial hypotonia	OMIM:607317
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Spastic gait, Hemidystonia, Spastic tetraparesis	OMIM:619052
Spastic Paraplegia 53, Autosomal Recessive	Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Dystonia, Lower limb hypertonia	OMIM:614898
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Spasticity, Hypotonia, Dysmetria, Loss of ambulation, Ataxia, Dystonia, Choreoathetosis	OMIM:618088
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Hypotonia, Tremor, Ataxia, Dystonia, Dysdiadochokinesis, Axial...	OMIM:618049
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Hand tremor, Writer's cramp	OMIM:608105
Hemidystonia-Hemiatrophy Syndrome	Dystonia, Limb dystonia	ORPHA:306741
Hyperphenylalaninemia, Bh4-Deficient, C	Hypotonia, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Dystonia, Spasticity, Hypotonia	OMIM:617820
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Dystonia, Spastic tetraplegia, Infantile muscular hypotonia, Ataxia	ORPHA:263410
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Generalized hypotonia, Inability to walk, Hypotonia, Lower limb spasticity, Ata...	OMIM:616756
Spastic Paraplegia 90A, Autosomal Dominant	Spastic gait, Dystonia, Axial hypotonia, Appendicular spasticity	OMIM:620416
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Dystonia, Axial hypotonia	OMIM:618760
Mitochondrial Complex I Deficiency, Nuclear Type 23	Dystonia, Hypotonia, Generalized hypotonia	OMIM:618244
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Dystonia, Hypotonia	OMIM:620359
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Dystonia	OMIM:610181
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia	OMIM:619724
Mitochondrial Complex I Deficiency, Nuclear Type 17	Generalized dystonia, Hypotonia, Rigidity, Gait disturbance, Ataxia, Dystonia	OMIM:618239
Developmental Delay And Seizures With Or Without Movement Abnormalities	Generalized hypotonia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Developmental And Epileptic Encephalopathy 69	Inability to walk, Dystonia, Spastic tetraplegia, Axial hypotonia	OMIM:618285
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Spasticity, Inability to walk, Hypotonia, Ataxia, Dystonia	OMIM:618276
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Spasticity, Hypotonia, Limb ataxia, Limb dystonia, Head titubation, Torticollis, Truncal ataxia	OMIM:617560
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Tremor by anatomical site, Ataxia, K...	ORPHA:101110
Leukodystrophy, Hypomyelinating, 14	Dystonia, Spasticity, Generalized hypotonia	OMIM:617899
Parkinson Disease 6, Autosomal Recessive Early-Onset	Dystonia, Resting tremor, Rigidity	OMIM:605909
Partington Syndrome	Focal dystonia, Lower limb spasticity, Limb dystonia	OMIM:309510
Leukodystrophy, Hypomyelinating, 25	Dystonia, Hypotonia, Gait ataxia	OMIM:620243
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Dystonia, Ataxia	ORPHA:1171
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Generalized dystonia, Inability to walk, Dystonia, Opisthotonus, Spastic tetraparesis...	OMIM:619653
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Axial hypotonia, Tremor	OMIM:619651
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Hypertonia	OMIM:618824
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Gait ataxia, Dysmetria, Dystonia, Infantile muscular hypotonia, Unsteady gait, Truncal ataxia, No...	ORPHA:453521
Partington Syndrome	Gait disturbance, Limb dystonia, Lower limb spasticity	ORPHA:94083
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Generalized hypotonia, Limb dystonia, Tremor, Dystonia, Gait d...	ORPHA:352649
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid...	OMIM:600116
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development	Spastic paraplegia, Lower limb spasticity, Ataxia, Spastic gait, Dystonia	OMIM:607565
Dystonia 16	Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, Retrocollis, Gait distu...	OMIM:612067
Encephalopathy, Progressive, With Or Without Lipodystrophy	Dystonia, Spasticity, Tremor, Ataxia	OMIM:615924
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypotonia, Limb dystonia, Tremor, Ataxia	OMIM:620270
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Ataxia, Dystonia, Dysdiadochokinesis	OMIM:617145
Dystonia 9	Spastic paraplegia, Dystonia, Choreoathetosis, Episodic ataxia	OMIM:601042
Mitochondrial Myopathy With Lactic Acidosis	Spasticity, Tip-toe gait, Hypotonia, Dysmetria, Dystonia	OMIM:251950
Pontocerebellar Hypoplasia, Type 2C	Dystonia	OMIM:612390
Huntington Disease-Like 2	Dystonia, Gait disturbance	ORPHA:98934
Leukoencephalopathy, Cystic, Without Megalencephaly	Dystonia, Spasticity, Athetosis, Ataxia	OMIM:612951
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Generalized hypotonia, Inability to walk, Hypotonia, Tremor,...	OMIM:128100
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity	OMIM:606324
Spinocerebellar Ataxia 14	Focal dystonia, Gait ataxia, Dysmetria, Progressive cerebellar ataxia	OMIM:605361
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Difficulty walking, Head tremor, Hypotonia, Dystonia, Dystonic gait, Ataxia, Spastic ...	ORPHA:280219
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Gait disturbance, Dystonia	ORPHA:314632
Multiple Mitochondrial Dysfunctions Syndrome 6	Spasticity, Inability to walk, Hypotonia, Dysmetria, Ataxia, Dystonia	OMIM:617954
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Limb dystonia, Tremor, Rigidity, Gait disturbance, Oromandibular dystonia, Focal dyst...	ORPHA:216873
Leukodystrophy, Hypomyelinating, 16	Shuffling gait, Broad-based gait, Hypotonia, Gait ataxia, Intention tremor, Dysmetria, Hypertonia...	OMIM:617964
Pyruvate Dehydrogenase E2 Deficiency	Neonatal hypotonia, Generalized dystonia, Hypotonia, Paroxysmal dystonia, Ataxia, Dystonia, Chore...	OMIM:245348
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Spasticity, Falls, Generalized hypotonia, Hypotonia, Ataxia, Dystonia, Axial hypotonia	OMIM:619224
Basal Ganglia Calcification, Idiopathic, 1	Limb dysmetria, Tremor, Rigidity, Gait disturbance, Dystonia, Athetosis, Dysdiadochokinesis	OMIM:213600
Spinocerebellar Ataxia Type 17	Blepharospasm, Spasticity, Rigidity, Gait disturbance, Torticollis, Ataxia, Dystonia, Writer's cramp	ORPHA:98759
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Hypotonia, Limb dystonia, Torticollis, Ataxia, Choreoathetosis	OMIM:619054
Developmental And Epileptic Encephalopathy 17	Inability to walk, Dystonia, Athetosis	OMIM:615473
Mitochondrial Complex I Deficiency, Nuclear Type 3	Dystonia, Generalized hypotonia, Ataxia	OMIM:618224
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia	ORPHA:330050
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Gait ataxia, Cogwheel rigidity, Rigidity, Loss of ambulation, Dystonia, Gait disturba...	ORPHA:225154
Encephalopathy Due To Prosaposin Deficiency	Dystonia, Hypotonia	ORPHA:139406
Autosomal Recessive Dopa-Responsive Dystonia	Oculogyric crisis, Generalized dystonia, Generalized hypotonia, Hypotonia, Postural tremor, Limb ...	ORPHA:101150
Intellectual Developmental Disorder, X-Linked 111	Dystonia, Unsteady gait, Spasticity	OMIM:301107
Spastic Paraplegia 26, Autosomal Recessive	Spastic paraplegia, Tip-toe gait, Difficulty walking, Dysmetria, Lower limb spasticity, Ataxia, S...	OMIM:609195
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Falls, Axial hypotonia, Ataxia	OMIM:619150
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hypertonia, Oromandibular ...	OMIM:613135
Leukodystrophy, Hypomyelinating, 6	Spasticity, Hypotonia, Tremor, Rigidity, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:612438
Spastic Paraplegia 90B, Autosomal Recessive	Dystonia, Axial hypotonia, Appendicular spasticity	OMIM:620417
Familial Paroxysmal Ataxia	Dystonia, Torticollis, Ataxia	ORPHA:97
16P11.2P12.2 Microduplication Syndrome	Dystonia	ORPHA:261204
Episodic Ataxia, Type 9	Dystonia, Episodic ataxia	OMIM:618924
Developmental And Epileptic Encephalopathy 53	Hypotonia, Dystonia, Spastic tetraplegia	OMIM:617389
Mepan Syndrome	Hemidystonia, Spasticity, Hypotonia, Limb dystonia, Axial dystonia, Craniofacial dystonia, Gait d...	ORPHA:508093
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Dystonia, Spastic diplegia, Ataxia	OMIM:619065
Spinocerebellar Ataxia 28	Spasticity, Limb ataxia, Gait ataxia, Dystonia, Lower limb hypertonia	OMIM:610246
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Dystonia, Ataxia	OMIM:616684
Primary Dystonia, Dyt4 Type	Blepharospasm, Upper limb postural tremor, Generalized dystonia, Laryngeal dystonia, Gait disturb...	ORPHA:98805
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Spasticity, Limb hypertonia, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:615905
Amyotrophic Lateral Sclerosis 2, Juvenile	Spasticity, Arm dystonia, Tip-toe gait, Generalized dystonia, Difficulty walking, Spastic diplegi...	OMIM:205100
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Dystonia, Falls, Tremor, Rigidity	ORPHA:240085
Spastic Paraplegia 47, Autosomal Recessive	Spastic paraplegia, Spasticity, Neonatal hypotonia, Inability to walk, Hypertonia, Dystonia, Wadd...	OMIM:614066
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia	OMIM:619911
Aicardi-Goutieres Syndrome 3	Dystonia, Hypotonia, Spasticity, Generalized hypotonia	OMIM:610329
Glut1 Deficiency Syndrome 2	Dystonia, Choreoathetosis, Tremor, Ataxia	OMIM:612126
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Resting tremor, Inability to walk, Akinesia, Gait a...	ORPHA:391411
Juvenile Huntington Disease	Broad-based gait, Oral motor hypotonia, Gait ataxia, Rigidity, Ataxia, Dystonia, Progressive cere...	ORPHA:248111
Developmental And Epileptic Encephalopathy 27	Dystonia, Hypotonia, Spasticity, Axial hypotonia	OMIM:616139
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia	OMIM:250850
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Spastic paraplegia, Difficulty walking, Dysmetria, Dystonia, Lower limb spasticity, Ataxia, Spast...	OMIM:612319
Glut1 Deficiency Syndrome 1	Spasticity, Choreoathetosis, Paroxysmal dystonia, Ataxia	OMIM:606777
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Dystonia, Hypotonia, Broad-based gait	OMIM:619157
Spinocerebellar Ataxia 48	Gait ataxia, Tremor, Dysmetria, Ataxia, Dystonia	OMIM:618093
Spinocerebellar Ataxia Type 2	Generalized hypotonia, Postural tremor, Gait ataxia, Kinetic tremor, Dystonia, Progressive cerebe...	ORPHA:98756
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Hypotonia, Limb hypertonia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:606703
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Dystonia, Tremor, Generalized hypotonia	ORPHA:306669
Leukoencephalopathy With Dystonia And Motor Neuropathy	Dystonia, Head tremor, Intention tremor, Torticollis	OMIM:613724
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Dystonia, Athetosis	OMIM:300857
Raynaud-Claes Syndrome	Generalized hypotonia, Hypotonia, Lower limb spasticity, Dystonia, Progressive cerebellar ataxia	OMIM:300114
Spastic Ataxia 3, Autosomal Recessive	Spasticity, Gait ataxia, Dysmetria, Loss of ambulation, Spastic ataxia, Ataxia, Dystonia	OMIM:611390
Hypermanganesemia With Dystonia 2	Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Hypotonia, Limb dystonia, Trem...	OMIM:617013
Leukodystrophy, Hypomyelinating, 18	Spasticity, Dysmetria, Dystonia, Progressive spasticity, Spastic tetraplegia	OMIM:618404
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Hypotonia, Dystonia, Tremor, Progressive cerebellar ataxia	ORPHA:139485
Severe Intellectual Disability And Progressive Spastic Paraplegia	Spasticity, Progressive spastic paraplegia, Difficulty walking, Hypotonia, Facial hypotonia, Dyst...	ORPHA:280763
Developmental And Epileptic Encephalopathy 16	Hypotonia, Dystonia, Severe muscular hypotonia	OMIM:615338
Leukoencephalopathy, Progressive, With Ovarian Failure	Dystonia, Spasticity, Hand tremor, Ataxia	OMIM:615889
Ataxia-Telangiectasia-Like Disorder 1	Hypotonia, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, Ataxia, Unsteady gait, Dysdia...	OMIM:604391
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Dysmetria, Spastic ataxia, Ataxia, Dystonia, Dysdiadochokinesis	OMIM:614487
Developmental And Epileptic Encephalopathy 67	Dystonia, Gait disturbance, Athetosis	OMIM:618141
Corticobasal Syndrome	Progressive extrapyramidal muscular rigidity, Akinesia, Limb dystonia, Tremor, Gait disturbance, ...	ORPHA:454887
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Tremor, Rigidity, Ataxia, Dystonia, Choreoathetosi...	OMIM:606159
Developmental And Epileptic Encephalopathy 44	Dystonia, Spasticity, Athetosis, Axial hypotonia	OMIM:617132
Infantile Convulsions And Choreoathetosis	Dystonia, Athetosis, Choreoathetosis	ORPHA:31709
Dystonia 28	Arm dystonia, Generalized dystonia, Leg dystonia, Oromandibular dystonia, Torticollis	ORPHA:589618
Guanidinoacetate Methyltransferase Deficiency	Hypotonia, Dystonia, Athetosis, Ataxia	ORPHA:382
Aicardi-Goutieres Syndrome 6	Loss of ambulation, Dystonia, Tremor, Rigidity	OMIM:615010
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Dystonia, Hypotonia, Spasticity, Ataxia	OMIM:620094
Pontocerebellar Hypoplasia, Type 14	Hypotonia, Dystonia, Spastic tetraplegia, Hypertonia	OMIM:619301
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:261640
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spasticity, Generalized hypotonia, Dystonia, Spastic tetraplegia, Choreoathetosis	OMIM:618238
Baker-Gordon Syndrome	Neonatal hypotonia, Inability to walk, Ataxia, Dystonia, Choreoathetosis	OMIM:618218
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Spastic paraplegia, Neonatal hypotonia, Dystonia, Ataxia, Unsteady gait, Spastic tetraplegia	OMIM:245349
Juvenile Amyotrophic Lateral Sclerosis	Arm dystonia, Tip-toe gait, Difficulty walking, Inability to walk, Spastic diplegia, Retrocollis,...	ORPHA:300605
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Generalized hypotonia, Difficulty walking, Head titubation, Ataxia, Dystonia, Progressive spasticity	ORPHA:527497
Pontocerebellar Hypoplasia, Type 15	Hypotonia, Dystonia, Spastic tetraplegia, Hypertonia	OMIM:619302
Leukodystrophy, Hypomyelinating, 21	Dystonia, Athetosis, Ataxia	OMIM:619310
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Oculogyric crisis, Inability to walk, Hypotonia, Severe muscular hypotonia, Dystonia	OMIM:614254
Leber Optic Atrophy And Dystonia	Dystonia, Spasticity, Athetosis	OMIM:500001
Spinocerebellar Ataxia 17	Broad-based gait, Limb ataxia, Gait ataxia, Dysmetria, Rigidity, Ataxia, Dystonia, Intention tremor	OMIM:607136
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Hypertonia, Ataxia, Dystonia, Choreoathetosis	ORPHA:71277
Leukodystrophy, Hypomyelinating, 2	Spastic paraparesis, Intention tremor, Rigidity, Head titubation, Ataxia, Dystonia, Progressive s...	OMIM:608804
Combined Oxidative Phosphorylation Deficiency 13	Severe muscular hypotonia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:614932
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Dystonia, Generalized hypotonia, Choreoathetosis, Ataxia	OMIM:618416
Spinocerebellar Ataxia Type 6	Blepharospasm, Gait ataxia, Unsteady gait, Dystonia, Intention tremor, Progressive cerebellar ataxia	ORPHA:98758
Hyperphenylalaninemia, Bh4-Deficient, B	Generalized hypotonia, Hypotonia, Tremor, Rigidity, Severe muscular hypotonia, Limb hypertonia, D...	OMIM:233910
3-Methylglutaconic Aciduria, Type I	Spasticity, Ataxia, Dystonia, Athetosis, Spastic tetraplegia	OMIM:250950
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Difficulty walking, Infantile axial hypotonia, Dysmetria, Lower limb spasticity, Ataxia, Dystonia...	ORPHA:438114
Amyotrophic Dystonic Paraplegia	Spastic paraplegia, Dystonia	OMIM:105300
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Gait disturbance, Ataxia, Dystonia	ORPHA:542310
Infantile Dystonia-Parkinsonism	Oculogyric crisis, Limb hypertonia, Hypertonia, Dystonia, Axial hypotonia	ORPHA:238455
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Progressive extrapyramidal muscular rigidity, Difficulty walking, Ataxia, Dystonia	ORPHA:401768
Spinocerebellar Ataxia With Epilepsy	Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar ataxia	ORPHA:254881
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Progressive spastic paraplegia, Difficulty walking, Dystonia, Lower limb spasticity, ...	ORPHA:464282
Leukodystrophy, Hypomyelinating, 9	Dysmetria, Lower limb spasticity, Ataxia, Dystonia, Intention tremor, Axial hypotonia	OMIM:616140
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Inability to walk, Hypotonia, Gait ataxia, Tremor, Rigidity, Head titubation, Hyperto...	OMIM:618877
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Dysmetria, Ataxia, Dystonia, Spastic dysarthria, Dysdiadochokinesis	ORPHA:313772
Ataxia With Vitamin E Deficiency	Dysmetria, Tremor, Gait disturbance, Hypertonia, Ataxia, Dystonia, Dysdiadochokinesis	ORPHA:96
Lopes-Maciel-Rodan Syndrome	Spasticity, Tremor, Hypertonia, Unsteady gait, Dystonia, Axial hypotonia	OMIM:617435
Baralle-Macken Syndrome	Inability to walk, Dystonia, Spasticity, Neonatal hypotonia	OMIM:619255
Leukodystrophy, Hypomyelinating, 20	Dystonia, Hypertonia, Spastic tetraplegia, Torticollis	OMIM:619071
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Tremor, Rigidity, Limb hypertonia, Dystonia, Axial hypotonia	ORPHA:70594
Spinocerebellar Ataxia 21	Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Postural tremor, Ataxia, Dystonia, Intenti...	OMIM:607454
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Arm dystonia, Episodic ataxia, Episodic generalized hypotonia, Hypotonia, Gait ataxia, Dysmetria,...	OMIM:601338
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Hypotonia, Dystonia, Choreoathetosis	OMIM:618497
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Freezing of gait, Rigidity, Tremor, Focal...	ORPHA:99750
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Falls, Hypotonia, Rigidity, Opisthotonus, Hypertonia, Ataxia, Dystonia, Choreo...	ORPHA:13
Combined Oxidative Phosphorylation Deficiency 50	Generalized dystonia	OMIM:619025
Autosomal Dominant Spastic Paraplegia Type 9B	Focal dystonia, Hypotonia, Postural tremor, Loss of ambulation, Progressive gait ataxia, Spastic ...	ORPHA:447757
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Hypotonia, Dysmetria, Head titubation, Ataxia, Truncal ataxia, Dystonia	OMIM:250620
Developmental And Epileptic Encephalopathy 86	Dystonia, Generalized hypotonia	OMIM:618910
Neurodevelopmental Disorder With Dystonia And Seizures	Hypotonia, Dystonia, Athetosis, Spastic tetraplegia	OMIM:619922
Oromandibular Dystonia	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Lingual dystonia, Tortico...	ORPHA:93958
Mitochondrial Complex I Deficiency, Nuclear Type 8	Dystonia, Axial dystonia, Generalized hypotonia	OMIM:618230
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Spasticity, Inability to walk, Gait ataxia, Limb hypertonia, Infantile muscular hypotonia, Dystonia	ORPHA:500180
Atypical Rett Syndrome	Spasticity, Pill-rolling tremor, Neonatal hypotonia, Abnormal muscle tone, Inability to walk, Hyp...	ORPHA:3095
Huntington Disease-Like 2	Dystonia, Action tremor, Rigidity	OMIM:606438
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Spasticity, Inability to walk, Rigidity, Ataxia, Dystonia	OMIM:617672
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Generalized dystonia, Inability to walk, Hypotonia, Intenti...	OMIM:312080
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia, Dysmetria, Ataxia	OMIM:618317
Progressive Myoclonic Epilepsy With Dystonia	Dystonia, Generalized neonatal hypotonia	ORPHA:352596
Huntington Disease-Like 3	Dystonia, Unsteady gait, Spasticity, Ataxia	OMIM:604802
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Spastic paraparesis, Tremor, Rigidity	ORPHA:329284
Mitochondrial Membrane Protein-Associated Neurodegeneration	Shuffling gait, Spastic paraparesis, Spasticity, Hand tremor, Rigidity, Gait disturbance, Dystonia	ORPHA:289560
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Tremor, Rigidity, Gait disturbance, Torticollis, Ataxia...	OMIM:606693
Kaya-Barakat-Masson Syndrome	Spasticity, Generalized hypotonia, Limb dystonia, Spastic tetraplegia, Axial hypotonia	OMIM:619125
Parkinsonism-Dystonia 3, Childhood-Onset	Action tremor, Tremor, Hypertonia, Ataxia, Dystonia	OMIM:619738
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Ataxia, Dystonia	OMIM:607694
Ataxia-Telangiectasia-Like Disorder	Generalized hypotonia, Gait ataxia, Intention tremor, Dysmetria, Ataxia, Dystonia, Dysdiadochokin...	ORPHA:251347
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Dystonia, Spasticity, Gait ataxia	OMIM:618917
Mitochondrial Complex I Deficiency, Nuclear Type 15	Dystonia, Spastic tetraplegia, Generalized hypotonia	OMIM:618237
Autosomal Recessive Spastic Paraplegia Type 26	Dystonia, Gait disturbance, Lower limb spasticity	ORPHA:101006
Siddiqi Syndrome	Limb dystonia	OMIM:618635
Developmental And Epileptic Encephalopathy 6B	Inability to walk, Hypotonia, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:619317
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spasticity, Hypotonia, Spastic hemiparesis, Dystonia, Spastic tetraplegia	OMIM:619616
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Spasticity, Dysmetria, Tremor, Unsteady gait, Dystonia	ORPHA:79263
Dystonia-Deafness Syndrome 1	Loss of ambulation, Oculogyric crisis, Generalized dystonia, Leg dystonia	OMIM:607371
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Spasticity, Hypotonia, Rigidity, Loss of ambulation, Craniofacial dystonia, Gait d...	OMIM:617282
Huntington Disease-Like 3	Broad-based gait, Spasticity, Extrapyramidal muscular rigidity, Progressive gait ataxia, Dystonia	ORPHA:157946
Peroxisomal Acyl-Coa Oxidase Deficiency	Hypotonia, Dystonia, Neonatal hypotonia, Hypertonia	OMIM:264470
Caribbean Parkinsonism	Progressive gait ataxia, Dystonia, Action tremor, Rigidity	ORPHA:97355
Spinocerebellar Ataxia Type 8	Spasticity, Limb ataxia, Gait ataxia, Rigidity, Dystonia, Ataxia, Unsteady gait, Spastic dysarthria	ORPHA:98760
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia	OMIM:300894
Neurodevelopmental Disorder With Involuntary Movements	Dystonia, Spasticity, Athetosis, Generalized hypotonia	OMIM:617493
Spinocerebellar Ataxia Type 3	Dystonia, Progressive cerebellar ataxia	ORPHA:98757
Foxg1 Syndrome	Spasticity, Difficulty walking, Inability to walk, Hypotonia, Dystonia, Choreoathetosis	ORPHA:561854
Leukodystrophy, Hypomyelinating, 15	Spasticity, Loss of ambulation, Ataxia, Dystonia, Athetosis, Intention tremor	OMIM:617951
Spinocerebellar Ataxia, Autosomal Recessive 31	Tremor, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:619422
Folinic Acid-Responsive Seizures	Broad-based gait, Difficulty walking, Dystonia, Hypertonia, Ataxia, Spastic tetraparesis	ORPHA:79097
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, Facial hypotonia, Tremor...	OMIM:300055
Sulfite Oxidase Deficiency, Isolated	Ataxia, Generalized dystonia, Generalized hypotonia, Infantile muscular hypotonia, Hypertonia, Ch...	OMIM:272300
Dihydrolipoamide Dehydrogenase Deficiency	Hypotonia, Dystonia, Ataxia	OMIM:246900
Harel-Yoon Syndrome	Spasticity, Inability to walk, Hypotonia, Ataxia, Dystonia, Axial hypotonia	OMIM:617183
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Inability to walk, Gait ataxia, Action tremor, Cogwheel rigidity, Rigidity, O...	OMIM:607483
Short Chain Acyl-Coa Dehydrogenase Deficiency	Infantile muscular hypotonia, Dystonia, Hypertonia	ORPHA:26792
Congenital Arthrogryposis With Anterior Horn Cell Disease	Difficulty walking, Dystonia, Inability to walk, Generalized hypotonia	OMIM:611890
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Dystonia, Gait disturbance, Rigidity	OMIM:600795
4H Leukodystrophy	Dysmetria, Tremor, Progressive gait ataxia, Ataxia, Dystonia, Dysdiadochokinesis	ORPHA:289494
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Dystonia, Hypotonia, Spasticity, Generalized hypotonia	OMIM:616277
Developmental And Epileptic Encephalopathy 1	Spastic tetraparesis, Hypertonia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:308350
Hereditary Methemoglobinemia	Spasticity, Limb dystonia, Hypertonia, Athetosis, Spastic tetraplegia	ORPHA:621
Ataxia-Oculomotor Apraxia Type 4	Dystonia, Ataxia	ORPHA:459033
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Dystonia, Infantile muscular hypotonia	ORPHA:457205
Gaucher Disease Type 2	Dystonia, Spasticity	ORPHA:77260
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Gait ataxia, Tremor, Loss of ambulation, Ataxia, Truncal ataxia, Dystonia	OMIM:208920
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Spasticity, Hypertonia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:618451
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Combined Oxidative Phosphorylation Deficiency 35	Dystonia, Spasticity, Generalized hypotonia	OMIM:617873
Alzheimer Disease 3	Dystonia, Optic ataxia, Gait disturbance, Spastic tetraparesis	OMIM:607822
Autosomal Recessive Spastic Paraplegia Type 78	Progressive spastic paraplegia, Difficulty walking, Progressive gait ataxia, Progressive spastic ...	ORPHA:513436
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity	OMIM:616840
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait apraxia, A...	OMIM:615157
Episodic Ataxia, Type 2	Progressive cerebellar ataxia, Dystonia, Episodic ataxia	OMIM:108500
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Neonatal hypotonia, Ataxia, Truncal ataxia, Dystonia	OMIM:252011
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Spasticity, Inability to walk, Dysmetria, Limb hypertonia, Ataxia, Dystonia, Axial hypotonia	OMIM:618087
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Opisthotonus, Gait disturbance	ORPHA:216866
Autosomal Recessive Spastic Paraplegia Type 53	Limb dystonia, Upper limb hypertonia	ORPHA:319199
Pyruvate Dehydrogenase E1-Alpha Deficiency	Generalized hypotonia, Episodic ataxia, Hypotonia, Tremor, Dystonia, Choreoathetosis	OMIM:312170
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Inability to walk, Hypotonia, Tremor, Dystonia, Choreoathetosis	OMIM:617664
Pyruvate Dehydrogenase E2 Deficiency	Broad-based gait, Arm dystonia, Difficulty walking, Frog-leg posture, Paroxysmal dystonia, Gait d...	ORPHA:79244
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Dyssynergi...	ORPHA:101
Leber Optic Atrophy	Dystonia, Postural tremor, Ataxia	OMIM:535000
Mucolipidosis Iv	Hypotonia, Dystonia, Spastic tetraplegia, Generalized hypotonia	OMIM:252650
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Cogwheel rigidity, Ataxia, Dystonia, Intention tremor	OMIM:619725
Mohr-Tranebjaerg Syndrome	Dystonia, Spasticity, Tremor	OMIM:304700
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Dysmetria, Tremor, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Athetosis, Spastic tetraplegia,...	OMIM:617710
Mitochondrial Complex I Deficiency, Nuclear Type 26	Dystonia, Limb hypertonia, Choreoathetosis	OMIM:618247
Mohr-Tranebjaerg Syndrome	Shuffling gait, Generalized dystonia, Inability to walk, Tremor, Oromandibular dystonia, Focal dy...	ORPHA:52368
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Dystonia, Hypotonia, Spastic tetraparesis, Axial hypotonia	OMIM:617668
Spinocerebellar Ataxia Type 1	Generalized hypotonia, Postural tremor, Gait imbalance, Dysmetria, Gait disturbance, Dystonia, Dy...	ORPHA:98755
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Spasticity, Generalized hypotonia, Inability to walk, Hypotonia, Dystonia	OMIM:614739
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Loss of ambulation, Dystonia, Gait disturbance	OMIM:167320
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Dystonia, Spasticity, Generalized hypotonia	OMIM:613970
Pyruvate Dehydrogenase Deficiency	Spasticity, Hypotonia, Tremor, Gait disturbance, Ataxia, Dystonia, Choreoathetosis	ORPHA:765
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Steppage gait, Dystonia	OMIM:613280
Leigh Syndrome, Nuclear	Spasticity, Generalized hypotonia, Hypotonia, Ataxia, Dystonia	OMIM:256000
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Spasticity, Difficulty walking, Hypotonia, Gait ataxia, Facial hypotonia, Dystonia	OMIM:617807
Manganese Poisoning	Akinesia, Postural tremor, Cogwheel rigidity, Gait disturbance, Hypertonia, Dystonia	ORPHA:306682
Coenzyme Q10 Deficiency, Primary, 5	Hypotonia, Dystonia, Hypertonia, Generalized hypotonia	OMIM:614654
Hengel-Maroofian-Schols Syndrome	Spasticity, Inability to walk, Hypotonia, Gait imbalance, Dystonia	OMIM:619641
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Dystonia, Dysdiadochokinesis	OMIM:614381
Lipoyltransferase 1 Deficiency	Dystonia, Hypotonia, Spastic tetraparesis, Axial hypotonia	OMIM:616299
Neuroferritinopathy	Blepharospasm, Arm dystonia, Resting tremor, Difficulty walking, Leg dystonia, Writer's cramp, Fo...	ORPHA:157846
Pontocerebellar Hypoplasia, Type 9	Spasticity, Hypertonia, Facial hypotonia, Dystonia, Axial hypotonia	OMIM:615809
Mitochondrial Complex I Deficiency, Nuclear Type 5	Generalized hypotonia, Hypotonia, Ataxia, Dystonia, Axial hypotonia	OMIM:618226
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Shuffling gait, Tremor, Rigidity, Gait disturbance, Dystonia	OMIM:615530
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Spasticity, Inability to walk, Hypotonia, Lower limb spasticity, Ataxia, Dystonia	OMIM:617854
Ataxia With Vitamin E Deficiency	Dysmetria, Gait disturbance, Ataxia, Dystonia, Dysdiadochokinesis, Progressive cerebellar ataxia	OMIM:277460
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Generalized hypotonia, Hypotonia, Truncal ataxia, Dystonia, Intention tremor	OMIM:614407
Friedreich Ataxia	Spasticity, Falls, Inability to walk, Gait imbalance, Gait ataxia, Limb ataxia, Dysmetria, Intent...	ORPHA:95
Allan-Herndon-Dudley Syndrome	Spasticity, Neonatal hypotonia, Axial hypotonia, Limb hypertonia, Ataxia, Dystonia, Spastic tetra...	ORPHA:59
Developmental And Epileptic Encephalopathy 38	Dystonia, Limb hypertonia, Axial hypotonia, Ataxia	OMIM:617020
Tremor-Ataxia-Central Hypomyelination Syndrome	Spasticity, Postural tremor, Dysmetria, Ataxia, Dystonia, Spastic dysarthria, Intention tremor	ORPHA:447896
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Dystonia, Spasticity, Ataxia	OMIM:617341
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia	OMIM:168605
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Spasticity, Generalized dystonia, Generalized hypotonia, Inability to walk, Hypotonia, Ataxia	ORPHA:70472
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Head tremor, Gait imbalance, Postural tremor, Ataxia, Dystonia, Choreoathetosis	ORPHA:64753
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi...	ORPHA:227510
Liang-Wang Syndrome	Dystonia, Axial hypotonia, Ataxia	OMIM:618729
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Progressive cerebellar at...	ORPHA:102
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Dystonia, Spasticity	OMIM:607236
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Rigidity, Loss of ambulation, Gait disturbance, Dystonia	OMIM:168601
Progressive Supranuclear Palsy-Corticobasal Syndrome	Focal dystonia, Tremor, Progressive extrapyramidal muscular rigidity, Rigidity	ORPHA:240103
Pelizaeus-Merzbacher Disease	Spasticity, Hypotonia, Gait disturbance, Ataxia, Dystonia, Choreoathetosis	ORPHA:702
Deafness, Dystonia, And Cerebral Hypomyelination	Dystonia	OMIM:300475
Glutaric Acidemia I	Generalized hypotonia, Hypotonia, Rigidity, Opisthotonus, Dystonia, Choreoathetosis, Spastic dipl...	OMIM:231670
Autosomal Recessive Spastic Paraplegia Type 77	Progressive spastic paraplegia, Paroxysmal dystonia, Loss of ambulation, Scissor gait, Lower limb...	ORPHA:466722
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Hypotonia, Dystonia, Generalized hypotonia	OMIM:617268
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia	OMIM:168600
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Progressive extrapyramidal muscular rigidity, Infantile axial hypotonia, Gait ata...	ORPHA:225147
Autosomal Dominant Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Limb dystonia, Gait ataxia, Rigidity, Torticollis, Ataxia,...	ORPHA:98808
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Tremor, Loss of ambulation, Gait disturbance, Oromandibular dys...	OMIM:614298
2,4-Dienoyl-Coa Reductase Deficiency	Spasticity, Hypotonia, Ataxia, Dystonia, Choreoathetosis	OMIM:616034
Combined Oxidative Phosphorylation Defect Type 13	Generalized hypotonia, Limb dystonia, Choreoathetosis, Axial hypotonia, Lower limb hypertonia	ORPHA:319514
Gm1-Gangliosidosis, Type Iii	Dystonia, Ataxia	OMIM:230650
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hypotonia, Dystonia, Choreoathetosis	ORPHA:289916
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Dystonia, Spastic diplegia, Tremor, Generalized hypotonia	ORPHA:480907
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Progressive cerebellar at...	ORPHA:98933
Aceruloplasminemia	Blepharospasm, Akinesia, Limb ataxia, Gait ataxia, Tremor, Rigidity, Craniofacial dystonia, Torti...	ORPHA:48818
Bilateral Generalized Polymicrogyria	Spasticity, Oculogyric crisis, Dystonia, Spastic tetraplegia, Axial hypotonia	ORPHA:208447
Gm2-Gangliosidosis, Ab Variant	Spastic tetraparesis, Generalized hypotonia, Hypotonia, Hypertonia, Exaggerated startle response,...	OMIM:272750
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Hypotonia, Tremor, Limb hypertonia, Dystonia	ORPHA:35708
Continuous Spikes And Waves During Sleep	Dystonia	ORPHA:725
Posttransplant Acute Limbic Encephalitis	Dystonia, Ataxia	ORPHA:163921
Huntington Disease	Difficulty walking, Inability to walk, Gait imbalance, Rigidity, Gait disturbance, Dystonia	ORPHA:399
X-Linked Creatine Transporter Deficiency	Hypotonia, Hypertonia, Ataxia, Dystonia, Athetosis	ORPHA:52503
Metachromatic Leukodystrophy	Generalized hypotonia, Hypotonia, Gait disturbance, Ataxia, Dystonia, Spastic tetraplegia	OMIM:250100
Pontocerebellar Hypoplasia Type 2	Spasticity, Upper limb hypertonia, Infantile axial hypotonia, Paroxysmal dystonia, Choreoathetosi...	ORPHA:2524
Christianson Syndrome	Truncal ataxia, Dystonia, Gait ataxia	ORPHA:85278
Jaberi-Elahi Syndrome	Broad-based gait, Inability to walk, Hypotonia, Gait ataxia, Dysmetria, Appendicular spasticity, ...	OMIM:617988
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Truncal ataxia, Dystonia, Head titubation, Hypotonia	ORPHA:88639
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
Classic Galactosemia	Postural tremor, Gait imbalance, Action tremor, Gait disturbance, Ataxia, Dystonia	ORPHA:79239
Infantile Neuroaxonal Dystrophy	Spasticity, Spastic tetraparesis, Dystonia, Gait disturbance, Ataxia, Unsteady gait, Progressive ...	ORPHA:35069
Developmental And Epileptic Encephalopathy 64	Inability to walk, Hypotonia, Paroxysmal dystonia, Limb hypertonia, Dystonia	OMIM:618004
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb hypertonia, Limb tremor, Torticollis, Exagg...	OMIM:608643
Severe Neurodegenerative Syndrome With Lipodystrophy	Spasticity, Limb dystonia, Gait ataxia, Tremor, Ataxia	ORPHA:363400
Machado-Joseph Disease	Spasticity, Limb ataxia, Rigidity, Ataxia, Truncal ataxia, Dystonia, Progressive cerebellar ataxia	OMIM:109150
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Dystonia, Spastic tetraparesis	ORPHA:404451
Combined Malonic And Methylmalonic Acidemia	Dystonia, Axial hypotonia	ORPHA:289504
Progressive Supranuclear Palsy	Blepharospasm, Falls, Tremor, Rigidity, Unsteady gait, Dystonia	ORPHA:683
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hypotonia, Dystonia, Choreoathetosis	ORPHA:79312
Kcnq2-Related Epileptic Encephalopathy	Inability to walk, Hypotonia, Dystonia	ORPHA:439218
Metachromatic Leukodystrophy, Late Infantile Form	Spasticity, Tip-toe gait, Decerebrate rigidity, Generalized hypotonia, Gait ataxia, Progressive g...	ORPHA:309256
Aicardi-Goutieres Syndrome 4	Dystonia, Spasticity	OMIM:610333
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Neonatal hypotonia, Progressive spastic quadriplegia, Dystonia, Choreoathetosis, Nonprogressive c...	ORPHA:431361
Dystonia-Aphonia Syndrome	Oromandibular dystonia, Unsteady gait, Gait disturbance, Generalized dystonia	ORPHA:412217
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Spasticity, Inability to walk, Hypotonia, Loss of ability to walk in early childhood, Dystonia, A...	OMIM:612073
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Hypotonia, Loss of ambulation, Dystonia, Choreoathetosis, Spastic diplegia	ORPHA:391428
Gm2 Gangliosidosis, Ab Variant	Progressive spastic quadriplegia, Dystonia, Infantile axial hypotonia, Exaggerated startle response	ORPHA:309246
Birk-Landau-Perez Syndrome	Difficulty walking, Limb ataxia, Appendicular hypotonia, Limb hypertonia, Facial hypotonia, Dysto...	OMIM:617595
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic paraplegia, Gait disturbance, Ataxia, Spastic gait, Dystonia	OMIM:620538
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Dystonia, Progressive cerebellar ataxia	OMIM:618868
Mitochondrial Complex I Deficiency, Nuclear Type 13	Spasticity, Generalized dystonia	OMIM:618235
Myopathy With Extrapyramidal Signs	Difficulty walking, Hypotonia, Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:615673
Fatty Acid Hydroxylase-Associated Neurodegeneration	Falls, Generalized dystonia, Progressive spastic paraplegia, Progressive spastic paraparesis, Los...	ORPHA:329308
Ataxia-Oculomotor Apraxia 4	Dystonia, Ataxia	OMIM:616267
Leukodystrophy, Progressive, Early Childhood-Onset	Dystonia, Axial hypotonia, Appendicular spasticity	OMIM:617762
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Tremor, Ataxia, Dystonia, Choreoathetosis, Axial hypotonia	OMIM:612716
Rett Syndrome	Spasticity, Gait ataxia, Gait apraxia, Truncal ataxia, Dystonia	OMIM:312750
Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Tip-toe gait, Leg dystonia, Limb dystonia, Intention tremor, Rigidity, Loss of ambula...	ORPHA:157850
Developmental And Epileptic Encephalopathy 29	Blepharospasm, Spasticity, Limb dystonia, Axial hypotonia	OMIM:616339
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Limb ataxia, Gait ataxia, Rigidity, Steppage gait, Truncal ataxia, Dystonia, Intention tremor	OMIM:258450
Niemann-Pick Disease, Type C1	Spasticity, Generalized hypotonia, Hypotonia, Gait ataxia, Ataxia, Dystonia	OMIM:257220
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Generalized hypotonia, Difficulty walking, Hypotonia, Ataxia, Dystonia, Choreoa...	OMIM:610978
Combined Oxidative Phosphorylation Deficiency 10	Dystonia, Hypotonia, Spasticity	OMIM:614702
Autosomal Recessive Cutis Laxa Type 2A	Spasticity, Inability to walk, Hypotonia, Ataxia, Dystonia, Athetosis	ORPHA:357058
Parkinsonian-Pyramidal Syndrome	Shuffling gait, Spasticity, Rigidity, Dystonia, Intention tremor	ORPHA:171695
Pontocerebellar Hypoplasia, Type 2B	Spasticity, Hypotonia, Opisthotonus, Limb hypertonia, Dystonia, Axial hypotonia	OMIM:612389
Postencephalitic Parkinsonism	Oculogyric crisis, Resting tremor, Akinesia, Cogwheel rigidity, Rigidity, Tremor by anatomical site	ORPHA:97349
Pyruvate Dehydrogenase E1-Alpha Deficiency	Inability to walk, Hypotonia, Dystonia, Ataxia	ORPHA:79243
Developmental And Epileptic Encephalopathy 84	Spasticity, Generalized hypotonia, Opisthotonus, Dystonia, Axial hypotonia	OMIM:618792
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Dystonia, Hypotonia, Spasticity	OMIM:619286
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Gait disturbance	OMIM:617903
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Dystonia, Hypotonia, Spastic ataxia, Generalized hypotonia	OMIM:277410
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Spasticity, Neonatal hypotonia, Hypotonia, Gait disturbance, Hypertonia, Dyston...	OMIM:300352
Isolated Atp Synthase Deficiency	Spastic paraplegia, Dystonia, Hypotonia, Ataxia	ORPHA:254913
Developmental And Epileptic Encephalopathy 51	Inability to walk, Hypotonia, Dystonia	OMIM:617339
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Broad-based gait, Severe muscular hypotonia, Exaggerated startle response, Facial hypoton...	ORPHA:438216
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Generalized hypotonia, Difficulty walking, Inability to walk, Hypotonia, Tremor, Ataxia, Truncal ...	OMIM:615356
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Hypertonia, Dystonia, Dysdiadochokinesis	OMIM:610217
Filippi Syndrome	Dystonia	OMIM:272440
Young-Onset Parkinson Disease	Spasticity, Gait imbalance, Tremor, Rigidity, Dystonia	ORPHA:2828
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Tremor, Rigidity, Severe muscular hypotonia, Ataxia, Dystonia, Athetosis	ORPHA:25
Metachromatic Leukodystrophy, Juvenile Form	Spasticity, Decerebrate rigidity, Generalized hypotonia, Progressive gait ataxia, Dystonia, Inten...	ORPHA:309263
Lesch-Nyhan Syndrome	Spasticity, Hypotonia, Opisthotonus, Dystonia, Choreoathetosis	OMIM:300322
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Limb dystonia, Axial hypotonia	OMIM:620269
Alg3-Cdg	Dystonia, Hypotonia, Spastic tetraparesis, Hypertonia	ORPHA:79321
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Neonatal hypotonia, Hypotonia, Tremor, Opisthotonus, Ataxia, Dystonia, Choreoathetosis	OMIM:616271
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Spastic paraplegia, Axial dystonia	OMIM:619026
Intellectual Developmental Disorder, Autosomal Dominant 43	Hypotonia, Dystonia, Ataxia	OMIM:616977
Rasmussen Subacute Encephalitis	Inability to walk, Hemidystonia	ORPHA:1929
Gm1 Gangliosidosis	Spasticity, Decerebrate rigidity, Generalized dystonia, Generalized hypotonia, Hypotonia, Tremor,...	ORPHA:354
Pontocerebellar Hypoplasia, Type 17	Axial hypotonia, Limb hypertonia, Spastic tetraplegia, Paroxysmal dystonia	OMIM:619909
Machado-Joseph Disease Type 1	Dystonia, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxia	ORPHA:276238
Machado-Joseph Disease Type 2	Dystonia, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxia	ORPHA:276241
Rett Syndrome	Abnormal muscle tone, Difficulty walking, Inability to walk, Gait disturbance, Infantile muscular...	ORPHA:778
Tay-Sachs Disease	Decerebrate rigidity, Laryngeal dystonia, Inability to walk, Generalized hypotonia, Dysmetria, Tr...	ORPHA:845
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Gait ataxia, Ataxia, Dystonia, Spastic tetraplegia, Axial hypotonia	OMIM:618321
Metachromatic Leukodystrophy, Adult Form	Spasticity, Decerebrate rigidity, Generalized hypotonia, Difficulty walking, Progressive gait ata...	ORPHA:309271
Choreoacanthocytosis	Dystonia, Progressive choreoathetosis	OMIM:200150
Wars2-Related Combined Oxidative Phosphorylation Defect	Difficulty walking, Infantile axial hypotonia, Limb dystonia, Dysmetria, Tremor, Limb hypertonia,...	ORPHA:572798
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Hypotonia, Limb dystonia, Opisthotonus, Hypertonia, Spastic tetraplegia	OMIM:619847
Polyendocrine-Polyneuropathy Syndrome	Dystonia, Ataxia	OMIM:616113
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Dystonia, Limb hypertonia, Axial hypotonia, Generalized hypotonia	OMIM:616875
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Generalized hypotonia, Gait ataxia, Gait disturbance, Ataxia, Dystonia, Spastic tetraplegia, Spas...	OMIM:616878
Coach Syndrome 1	Spasticity, Generalized hypotonia, Hypotonia, Ataxia, Dystonia	OMIM:216360
Mitochondrial Complex I Deficiency, Nuclear Type 2	Difficulty walking, Hypotonia, Dystonia, Falls	OMIM:618222
Congenital Disorder Of Glycosylation, Type Ii	Dystonia, Generalized hypotonia	OMIM:607906
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Difficulty walking, Action tremor, Rigidity, Gait disturbance, Hypertonia, T...	ORPHA:309854
Metachromatic Leukodystrophy	Tip-toe gait, Decerebrate rigidity, Tremor, Gait disturbance, Infantile muscular hypotonia, Ataxi...	ORPHA:512
Combined Oxidative Phosphorylation Deficiency 27	Opisthotonus, Dystonia, Severe muscular hypotonia, Hypotonia	OMIM:616672
Wieacker-Wolff Syndrome	Dystonia, Hypotonia, Spasticity, Generalized hypotonia	OMIM:314580
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor	OMIM:601104
Cimdag Syndrome	Dystonia, Hypotonia, Spasticity, Ataxia	OMIM:619273
Supranuclear Palsy, Progressive, 2	Falls, Akinesia, Gait imbalance, Postural tremor, Axial dystonia, Retrocollis, Rigidity	OMIM:609454
Polyendocrine-Polyneuropathy Syndrome	Dystonia, Ataxia	ORPHA:453533
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Dystonia, Axial hypotonia, Appendicular spasticity	OMIM:617669
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Dystonia, Spastic ataxia, Generalized dystonia, Spastic tetraparesis	OMIM:620358
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hypotonia, Dystonia, Ataxia	OMIM:619167
Dilated Cardiomyopathy With Ataxia	Neonatal hypotonia, Action tremor, Lower limb spasticity, Ataxia, Dystonia	ORPHA:66634
Machado-Joseph Disease Type 3	Dystonia, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxia	ORPHA:276244
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spasticity, Inability to walk, Infantile axial hypotonia, Spastic ataxia, Torticollis, Dystonia, ...	ORPHA:300570
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Limb ataxia, Gait ataxia, Tremor, Progressive gait ataxia, Dystonia	OMIM:606002
Propionic Acidemia	Dystonia, Limb hypertonia, Axial hypotonia	OMIM:606054
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia	ORPHA:411602
Neuropathy, Congenital Hypomyelinating, 3	Dystonia, Spasticity	OMIM:618186
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypotonia, Dystonia	OMIM:614105
Pseudo-Torch Syndrome 1	Dystonia, Hypotonia, Spasticity, Axial hypotonia	OMIM:251290
Triosephosphate Isomerase Deficiency	Spasticity, Generalized hypotonia, Hypotonia, Tremor, Unsteady gait, Dystonia	OMIM:615512
Combined Oxidative Phosphorylation Deficiency 29	Dystonia, Spasticity, Generalized hypotonia	OMIM:616811
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Axial hypotonia, Oculogyric crisis, Hypertonia, Tremor	ORPHA:1578
Autosomal Recessive Spastic Paraplegia Type 35	Spastic paraplegia, Generalized dystonia, Difficulty walking, Dysmetria, Lower limb spasticity, S...	ORPHA:171629
Nabais Sa-De Vries Syndrome, Type 2	Dystonia, Neonatal hypotonia	OMIM:618829
Pontocerebellar Hypoplasia, Type 2A	Opisthotonus, Dystonia	OMIM:277470
Rett Syndrome, Congenital Variant	Spasticity, Neonatal hypotonia, Generalized hypotonia, Dystonia, Athetosis	OMIM:613454
Marbach-Schaaf Neurodevelopmental Syndrome	Tremor, Hemidystonia, Neonatal hypotonia, Torticollis	OMIM:619680
Aicardi-Goutieres Syndrome 1	Inability to walk, Dystonia, Spasticity, Axial hypotonia	OMIM:225750
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Spasticity, Neonatal hypotonia, Inability to walk, Limb dystonia, Limb hypertonia, Infantile musc...

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