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Gene: Prrt2 MGI:1916267

Gene Summary

Name:

proline-rich transmembrane protein 2

Synonyms:

1500031I19Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating alkaline phosphatase level	Prrt2^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.64×10^-05
abnormal cued conditioning behavior	Prrt2^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.40×10^-07
decreased startle reflex	Prrt2^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.15×10^-05
increased circulating amylase level	Prrt2^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.70×10^-09
short tibia	Prrt2^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.15×10^-06

Download data as: TSV XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Eye Morphology

Images Slit Lamp

1 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Legacy Phenotype Associated Images

Prrt2^{tm1a(KOMP)Wtsi}
WT, Female, WTSI

Prrt2^{tm1a(KOMP)Wtsi}
WT, Male, WTSI

View all 104 images

Prrt2^{tm1a(KOMP)Wtsi}
fused cornea and lens, HOM, Female, WTSI

Prrt2^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HOM, Male, WTSI

Prrt2^{tm1a(KOMP)Wtsi}
kinked tail, HOM, Female, WTSI

Human diseases caused by Prrt2 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 Prrt2 (9 diseases)
Human diseases predicted to be associated with Prrt2 (859 diseases)

The table below shows human diseases associated to Prrt2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa...	ORPHA:98810
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Choreoathetosis, Paresthesia, Parox...	ORPHA:98811
Paroxysmal Kinesigenic Dyskinesia	Athetosis, Chorea, Involuntary movements	ORPHA:98809
Infantile Convulsions And Choreoathetosis	Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ...	ORPHA:31709
Episodic Kinesigenic Dyskinesia 1	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:128200
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:602066
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Familial Or Sporadic Hemiplegic Migraine	Involuntary movements, Impaired temperature sensation, Dissociated sensory loss, Focal motor seiz...	ORPHA:569

The table below shows human diseases predicted to be associated to Prrt2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Chorea, Benign Familial	Chorea	OMIM:215450
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Episodic Kinesigenic Dyskinesia 2	Chorea, Involuntary movements, Paroxysmal dyskinesia	OMIM:611031
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Autosomal Dominant Focal Dystonia, Dyt25 Type	Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,...	ORPHA:329466
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Involuntary movements	OMIM:616939
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication	OMIM:314250
Dystonia 4, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia, Sl...	OMIM:128101
Striatal Degeneration, Autosomal Dominant 2	Chorea, Parkinsonism	OMIM:616922
Chorea, Benign Hereditary	Chorea, Frequent falls	OMIM:118700
Dystonia 25	Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia	OMIM:615073
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Chorea, Remitting, With Nystagmus And Cataract	Chorea	OMIM:601372
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Childhood-Onset Benign Chorea With Striatal Involvement	Chorea, Parkinsonism with favorable response to dopaminergic medication	ORPHA:494541
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys...	OMIM:602629
Dystonia 30	Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Oromandibular dystonia, Leg dyston...	OMIM:619291
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus	OMIM:125370
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa...	ORPHA:98810
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements	OMIM:620245
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Dystonia 17, Torsion, Autosomal Recessive	Torticollis, Focal dystonia	OMIM:612406
Dystonia 33	Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity	OMIM:619687
Primary Dystonia, Dyt17 Type	Torticollis, Generalized dystonia, Craniofacial dystonia	ORPHA:370103
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements	OMIM:618425
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction	ORPHA:401901
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Laryngeal dystonia, Spastic paraplegia, Dystonia	OMIM:619681
Dystonia With Cerebellar Atrophy	Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia	OMIM:611694
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Choreoathetosis, Paresthesia, Parox...	ORPHA:98811
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia, Decreased body...	OMIM:618284
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chorea, Poor co...	OMIM:619150
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se...	ORPHA:382
Paroxysmal Kinesigenic Dyskinesia	Athetosis, Chorea, Involuntary movements	ORPHA:98809
Acetyl-Coa Acetyltransferase-2 Deficiency	Chorea	OMIM:614055
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Striatonigral Degeneration, Infantile	Choreoathetosis, Spasticity, Failure to thrive, Dystonia	OMIM:271930
Dystonia, Focal, Task-Specific	Writer's cramp	OMIM:611284
Primary Dystonia, Dyt21 Type	Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst...	ORPHA:306734
Torsion Dystonia With Onset In Infancy	Torsion dystonia	OMIM:602554
Dystonia 35, Childhood-Onset	Dystonia	OMIM:619921
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Paroxysmal Nonkinesigenic Dyskinesia 2	Paroxysmal dystonia	OMIM:611147
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
3-Methylglutaconic Aciduria, Type Iii	Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity	OMIM:258501
Primary Dystonia, Dyt6 Type	Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary...	ORPHA:98806
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis	OMIM:118800
Dystonia 32	Torticollis, Laryngeal dystonia, Limb dystonia	OMIM:619637
Infantile Convulsions And Choreoathetosis	Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Athetosis, Seizure, Complex ...	ORPHA:31709
Cataract 11, Multiple Types	Chorea, Hypertonia	OMIM:610623
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Focal-onset seizure, Chorea, Inability to walk, Self-injurious behavior, Convulsive status epilep...	OMIM:618760
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Rigidity, Sensory ataxia, Difficulty walking, Dystonia	OMIM:619661
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Bilateral tonic-clonic seizure, Rigidity, Focal hemiclonic seizure, Chorea, ...	OMIM:616981
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Blepharonasofacial Malformation Syndrome	Torsion dystonia	OMIM:110050
Epilepsy, Nocturnal Frontal Lobe, 4	Dystonia	OMIM:610353
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Gait disturbance, Dystonia, Spasticity	OMIM:614561
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Chorea, Ataxia	OMIM:618683
Pontocerebellar Hypoplasia, Type 2C	Chorea	OMIM:612390
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Dystonia 15, Myoclonic	Writer's cramp, Dystonia	OMIM:607488
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei...	OMIM:616139
3-Methylglutaconic Aciduria Type 1	Progressive cerebellar ataxia, Failure to thrive, Spastic tetraparesis, Dystonia	ORPHA:67046
Choreoathetosis, Familial Inverted	Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign	OMIM:118750
Autosomal Recessive Spastic Paraplegia Type 56	Spastic paraplegia, Unsteady gait, Tip-toe gait, Dystonia, Spastic gait	ORPHA:320411
Spastic Ataxia 1, Autosomal Dominant	Spastic ataxia, Spastic paraplegia, Dysphagia, Gait disturbance, Dystonia	OMIM:108600
Dyschromatosis Symmetrica Hereditaria	Torsion dystonia	ORPHA:41
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-onset seizure, Inabi...	OMIM:618917
Episodic Kinesigenic Dyskinesia 1	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:128200
Atypical Pantothenate Kinase-Associated Neurodegeneration	Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, C...	ORPHA:216873
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Sandhoff Disease, Adult Form	Tremor, Dysphagia, Gait ataxia, Focal dystonia, Dystonia, Spasticity	ORPHA:309169
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Dysphagia, ...	OMIM:619565
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Striatonigral Degeneration, Childhood-Onset	Dystonia, Unsteady gait, Hypotonia, Steppage gait, Hypertonia, Dysphagia, Loss of ambulation, Cra...	OMIM:617054
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Axial hypotonia, Tremor, Agitation, Compulsive behaviors, Dystonia, Failure to thrive	OMIM:619651
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypotonia, Obesity, Limb dystonia	OMIM:620270
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Stxbp1-Related Encephalopathy	Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil...	ORPHA:599373
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Spastic paraplegia, Unsteady gait, Dystonia, Tip-toe gait	OMIM:615030
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Epileptic spasm, Inability to walk, Chorea, Myoclonic seizure, Seizure, Self-injurious behavior, ...	OMIM:614254
Spinocerebellar Ataxia 17	Broad-based gait, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Gait at...	OMIM:607136
Developmental And Epileptic Encephalopathy 7	Hypotonia, Spastic tetraparesis, Dystonia	OMIM:613720
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Head tremor, Limb dystonia	OMIM:614860
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome	Paroxysmal dystonia, Writer's cramp	ORPHA:163727
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Seizure, Hypertonia, Status epilepticus,...	ORPHA:71277
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor...	ORPHA:500180
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Huntington Disease-Like 2	Chorea, Involuntary movements, Parkinsonism	ORPHA:98934
Spastic Paraplegia 87, Autosomal Recessive	Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia	OMIM:619966
Huntington Disease-Like 1	Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria	OMIM:603218
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Tremor, Chorea, Babinski sign, Dysmetria, G...	OMIM:618093
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Hypotonia, Compulsive behaviors	OMIM:159900
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive...	ORPHA:248111
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Spastic paraplegia, Impaired vibration s...	ORPHA:251282
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Postural tremor, Writer's cramp, Impaired distal vibration sensation...	OMIM:128230
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv...	ORPHA:485350
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Self-...	OMIM:617493
Parkinsonism-Dystonia 1, Infantile-Onset	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,...	OMIM:613135
Huntington Disease	Rigidity, Chorea, Bradykinesia, Gait ataxia	OMIM:143100
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Compulsive behaviors, Dystonia	ORPHA:36899
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis	OMIM:104290
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure	OMIM:618501
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence...	ORPHA:79137
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia, Parox...	ORPHA:53583
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Motor tics, Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwhee...	OMIM:619725
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic s...	OMIM:617113
Huntington Disease	Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Clumsiness, Seizure, Addictive a...	ORPHA:399
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Limb hypertonia	ORPHA:324588
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Pontocerebellar Hypoplasia, Type 2D	Appendicular spasticity, Chorea, Clonus, Spastic tetraplegia	OMIM:613811
Spinocerebellar Ataxia Type 28	Limb dystonia, Kinetic tremor, Rigidity, Limb ataxia, Gait ataxia, Head tremor, Dystonia, Spasticity	ORPHA:101109
Dystonia 9	Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia	OMIM:601042
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston...	ORPHA:314603
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Retrocollis, Dystonia, Oromandibular dystoni...	OMIM:617284
Spinocerebellar Ataxia 14	Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attention deficit hyperact...	OMIM:605361
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Restlessness, Axial hypotonia, Ataxia, Inability to walk, Athetosis, Dystonia	OMIM:615159
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Generalized hypotonia, Dystonia	OMIM:616763
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Chorea, Gait disturbance, Dysphagia	OMIM:607674
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Infantile Neuronal Ceroid Lipofuscinosis	Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin...	ORPHA:79263
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Impaired proprioception, Upper limb hypertonia, Limb dystonia, Fail...	ORPHA:319199
Sydenham Chorea	Chorea, Unsteady gait, Inappropriate behavior, Hemiballismus, Compulsive behaviors	ORPHA:306731
Developmental And Epileptic Encephalopathy 17	Inability to walk, Chorea, Focal tonic seizure, Athetosis, Generalized tonic seizure	OMIM:615473
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, S...	OMIM:612716
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia...	ORPHA:98756
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Segawa Syndrome, Autosomal Recessive	Axial hypotonia, Tremor, Rigidity, Gait ataxia, Limb dystonia	OMIM:605407
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Axial hypotonia, Dystonia, Oculogyric crisis, Hypertonia, Attention deficit hyp...	OMIM:617384
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Restlessness, Ataxia, Clonus, Rigidity, Chorea, Dysphagia, Opisthotonus, Choreoathetosis, Bradyki...	ORPHA:13
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia, S...	OMIM:301107
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis	OMIM:615483
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Spastic paraparesis	ORPHA:67047
Spinocerebellar Ataxia Type 11	Dysphagia, Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia	ORPHA:98767
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Dystonia, Ataxia, Hypotonia, Dysmetria, Choreoathetosis, Positive Romberg sign, Dysphagia, Loss o...	OMIM:618088
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:618276
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Seizure, Abno...	OMIM:617672
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Infantile spasms, Chorea, Choreoathetosis, Athetosis, Seizure	OMIM:309541
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Axial hypotonia, Ataxia, Dystonia, Tremor, Hypotonia, Dysmetria, Dysphagia...	OMIM:617916
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Axial hypotonia, Dystonia	OMIM:619647
Basal Ganglia Calcification, Idiopathic, 6	Choreoathetosis, Involuntary movements, Parkinsonism	OMIM:616413
Spinocerebellar Ataxia 12	Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head tremor, Action...	OMIM:604326
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Hemiplegia	OMIM:614820
Developmental And Epileptic Encephalopathy 78	Cerebral palsy, Inability to walk, Chorea, Seizure, Status epilepticus, Spasticity	OMIM:618557
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Choreoathetosis, Spasticity, Axial hypotonia, Dystonia	OMIM:614249
Gordon Holmes Syndrome	Chorea, Ataxia	OMIM:212840
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Restlessness, Ataxia, Spastic tetraplegia, Dystonia, Infantile muscular hypotonia	ORPHA:263410
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia	OMIM:602124
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia	ORPHA:99657
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Ataxia, Dystonia	OMIM:619196
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Axial hypotonia, Spastic tetraplegia, Dystonia	OMIM:251280
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Obe...	OMIM:616756
Myoclonus, Intractable, Neonatal	Clonic seizure, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation	OMIM:617235
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs...	OMIM:617600
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se...	OMIM:619970
Spinocerebellar Ataxia, Autosomal Recessive 29	Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inability to walk, Hypotonia	OMIM:619389
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Torticollis, Ataxia, Small for gestational age, Hypotonia, Choreoathetosis, Limb dystonia	OMIM:619054
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp...	ORPHA:238455
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Difficulty walking, Dystonia, Spasticity	OMIM:617829
Epilepsy, Progressive Myoclonic, 8	Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls,...	OMIM:616230
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Action tremor	OMIM:606438
Hemidystonia-Hemiatrophy Syndrome	Dystonia, Limb dystonia	ORPHA:306741
Schimke X-Linked Mental Retardation Syndrome	Choreoathetosis, Spasticity	OMIM:312840
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Dystonia, Spasticity	OMIM:615924
Spastic Paraplegia, Ataxia, And Mental Retardation	Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limb...	OMIM:607565
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Inability to walk...	OMIM:618090
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Dystonia 16	Generalized dystonia, Postural tremor, Dysphagia, Gait disturbance, Retrocollis, Limb dystonia, L...	OMIM:612067
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:602066
Landau-Kleffner Syndrome	Speech apraxia, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral t...	ORPHA:98818
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Spastic diplegia, Failure to thrive in infancy, Dystonia	OMIM:619065
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Tip-toe gait, Gait disturbance, Compulsive behaviors, Sp...	OMIM:615643
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Axial hypotonia, Ataxia, Tremor, Gait ataxia, Dystonia, Spasticity	OMIM:607317
Neurodevelopmental Disorder With Dystonia And Seizures	Chorea, Spastic tetraplegia, Athetosis, Seizure, Self-injurious behavior	OMIM:619922
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Spastic tetraplegia, Dystonia	OMIM:618646
Folinic Acid-Responsive Seizures	Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Chorea, Seizure, Hypertonia, Stat...	ORPHA:79097
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Dystonia	OMIM:203740
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Action tremor	OMIM:619738
Hartnup Disorder	Hyperactivity, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Ge...	OMIM:234500
Multiple Mitochondrial Dysfunctions Syndrome 6	Ataxia, Inability to walk, Hypotonia, Dysmetria, Dystonia, Spasticity, Failure to thrive	OMIM:617954
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Spastic paraplegia, Limb ataxia, Upper limb spasticity, Gait disturbance, ...	OMIM:618418
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper ...	OMIM:614898
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Hypotonia, Choreoathetosis, Hypertonia, Dysphagia	OMIM:261630
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Ataxia, Chorea, Dysmetria, Gait ataxia, Choreoathetosis, Dysdiadochokinesi...	OMIM:604391
Huntington Disease-Like 1	Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsines...	ORPHA:157941
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Tics, Attention defici...	ORPHA:66624
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Torticollis, Head tremor, Dystonia, Intention tremor	OMIM:613724
16P11.2P12.2 Microduplication Syndrome	Attention deficit hyperactivity disorder, Dystonia	ORPHA:261204
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Dysphagia, Gait ataxia, Generalized hypotonia, Limb dystonia, Cranio...	ORPHA:71517
Dystonia 16	Torticollis, Postural tremor, Unsteady gait, Dysphagia, Limb dystonia	ORPHA:210571
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Chorea, Seizure, Status epilepticus, Focal impaired awareness sei...	OMIM:613970
Spinocerebellar Ataxia Type 17	Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal si...	ORPHA:98759
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Hypotonia, Self-injurious behavior, Dystonia, Spasticity, Abnormal repetitive ...	OMIM:617820
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Dystonia, Ataxia, Dysphagia	ORPHA:1171
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Dysphagia, Gait disturbance, L...	ORPHA:508093
Leukodystrophy, Hypomyelinating, 16	Broad-based gait, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, Shuffling gait,...	OMIM:617964
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Ataxia-Telangiectasia-Like Disorder	Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor apraxia, Freque...	ORPHA:251347
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:618497
Mitochondrial Dna Depletion Syndrome 17	Epilepsia partialis continua, Spastic tetraparesis, Chorea, Seizure, Status epilepticus, Hemiball...	OMIM:618567
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lower limb spasticity, Dystonia, Ataxia, Hypotonia, Gait ataxia, Gait disturbance, Difficulty wal...	OMIM:614458
Familial Infantile Bilateral Striatal Necrosis	Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Gait ataxia, Choreoathetosis, Cogwheel rigidity...	ORPHA:225154
Huntington Disease-Like 3	Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal mo...	OMIM:604802
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ...	OMIM:301020
Mitochondrial Complex I Deficiency, Nuclear Type 23	Hypotonia, Generalized hypotonia, Dystonia	OMIM:618244
Amyotrophic Lateral Sclerosis 2, Juvenile	Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lower motor ...	OMIM:205100
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Dystonia, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia...	OMIM:616127
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Spasticity	OMIM:308950
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Chorea, Babinski sign, Cho...	OMIM:618451
Parkinson Disease 2, Autosomal Recessive Juvenile	Tremor, Gait disturbance, Rigidity, Dystonia	OMIM:600116
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Writer's cramp, Hand tremor	OMIM:608105
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Dystonia 12	Torticollis, Tremor, Unsteady gait, Dysphagia, Dystonia	OMIM:128235
Parkinsonism-Dystonia 2, Infantile-Onset	Axial hypotonia, Ataxia, Oculogyric crisis, Tremor, Hypotonia, Dysdiadochokinesis, Shuffling gait...	OMIM:618049
Leukodystrophy, Hypomyelinating, 14	Spasticity, Generalized hypotonia, Dystonia	OMIM:617899
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Hypotonia, Dystonia	OMIM:620359
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Impaired oropharyngeal swallow ...	ORPHA:53351
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular...	ORPHA:420485
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Dystonia	OMIM:610181
Developmental And Epileptic Encephalopathy 44	Axial hypotonia, Athetosis, Dystonia, Spasticity, Failure to thrive	OMIM:617132
Leukodystrophy, Hypomyelinating, 18	Spastic tetraplegia, Dysmetria, Progressive spasticity, Dystonia, Spasticity, Failure to thrive	OMIM:618404
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann...	OMIM:239500
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r...	OMIM:617270
Huntington Disease-Like 3	Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyramidal sign, Seizure, Pro...	ORPHA:157946
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br...	OMIM:606159
Oculorenocerebellar Syndrome	Choreoathetosis, Spastic diplegia	OMIM:257970
Leukodystrophy, Hypomyelinating, 21	Athetosis, Failure to thrive, Ataxia, Dystonia	OMIM:619310
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Dystonia, Dysphagia	OMIM:300857
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Generalized hypotonia, Dystonia	OMIM:617836
Aceruloplasminemia	Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto...	OMIM:604290
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M...	ORPHA:2382
Dystonia 26, Myoclonic	Blepharospasm, Torticollis, Laryngeal dystonia, Dystonia	OMIM:616398
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil...	OMIM:607483
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykinesia, Progre...	ORPHA:98755
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto...	OMIM:617282
Developmental And Epileptic Encephalopathy 86	Small for gestational age, Generalized hypotonia, Dystonia	OMIM:618910
Mitochondrial Complex I Deficiency, Nuclear Type 17	Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dystonia	OMIM:618239
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Leukoencephalopathy, Cystic, Without Megalencephaly	Athetosis, Spasticity, Ataxia, Dystonia	OMIM:612951
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status...	ORPHA:225147
Spinocerebellar Ataxia Type 20	Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Gait ataxia, Laryngeal dyst...	ORPHA:101110
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:618238
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Torticollis, Head titubation, Hypotonia, Truncal ataxia, Limb ataxia, Limb dystonia, Spasticity	OMIM:617560
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia	OMIM:260300
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a...	OMIM:620145
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Rigidity, Limb ataxia, Hypertonia, Limb dystonia	OMIM:618824
3-Methylglutaconic Aciduria, Type I	Ataxia, Spastic tetraplegia, Athetosis, Dystonia, Spasticity, Failure to thrive, Self-mutilation	OMIM:250950
Leukodystrophy, Hypomyelinating, 25	Gait ataxia, Hypotonia, Dystonia	OMIM:620243
Sneddon Syndrome	Tremor, Seizure, Chorea, Hemiparesis	ORPHA:820
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Cachexia,...	ORPHA:300605
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Progressive extrapyramidal muscular rigidi...	ORPHA:401768
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Distal sen...	OMIM:208920
Spastic Paraplegia 26, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Spastic paraplegia, Dysmetria, Tip-t...	OMIM:609195
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv...	ORPHA:101039
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
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Choreoa...	ORPHA:561854
Spinocerebellar Ataxia 47	Ataxia, Chorea, Dysmetria, Seizure, Spasticity	OMIM:617931
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, ...	ORPHA:98805
Hyperphenylalaninemia, Bh4-Deficient, A	Axial hypotonia, Ataxia, Dystonia, Small for gestational age, Tremor, Rigidity, Choreoathetosis, ...	OMIM:261640
Raynaud-Claes Syndrome	Lower limb spasticity, Dystonia, Aggressive behavior, Hypotonia, Progressive cerebellar ataxia, G...	OMIM:300114
Atypical Rett Syndrome	Restrictive behavior, Neonatal hypotonia, Impaired pain sensation, Tremor, Inability to walk, Ton...	ORPHA:3095
Myopathy With Extrapyramidal Signs	Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Abnormality ...	OMIM:615673
Parkinson Disease 6, Autosomal Recessive Early-Onset	Rigidity, Resting tremor, Dystonia	OMIM:605909
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Hemidystonia, Severe temper tantrums, Spastic gait, Spastic tetraparesis	OMIM:619052
Spinocerebellar Ataxia 28	Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Lower limb hypertonia, Dystonia, Spasticity	OMIM:610246
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Infantile axial hypotonia, Tremor, Scissor gait, Oromandibular dystonia, Dystonia, Loss of ambula...	ORPHA:521406
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Unsteady gait, Dysmetria, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia...	ORPHA:453521
Partington Syndrome	Limb dystonia, Lower limb spasticity, Focal dystonia	OMIM:309510
Mitochondrial Complex I Deficiency, Nuclear Type 3	Ataxia, Generalized hypotonia, Dystonia	OMIM:618224
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Inappropriate behavior, Disinhibition, Gait disturba...	OMIM:600795
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Dystonia	OMIM:619157
Developmental And Epileptic Encephalopathy 69	Inability to walk, Axial hypotonia, Spastic tetraplegia, Dystonia	OMIM:618285
Nasu-Hakola Disease	Chorea, Seizure, Disinhibition, Oculomotor apraxia, Spasticity	ORPHA:2770
Mitochondrial Myopathy With Lactic Acidosis	Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity	OMIM:251950
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Dystonia	OMIM:617145
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis, Dystonia, Neonatal...	OMIM:245348
Encephalopathy Due To Prosaposin Deficiency	Hypotonia, Dystonia	ORPHA:139406
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Ataxia, Inability to walk, Chorea, Seizure, Dysphagia, Spasticity	ORPHA:70472
Brain Dopamine-Serotonin Vesicular Transport Disease	Axial hypotonia, Ataxia, Oculogyric crisis, Spastic tetraparesis, Dystonia, Tremor, Dysdiadochoki...	ORPHA:352649
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Neonatal hypotonia...	OMIM:618218
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Rigidity, Hypotonia, Focal dyst...	ORPHA:101150
Dystonia 28	Torticollis, Generalized dystonia, Leg dystonia, Arm dystonia, Attention deficit hyperactivity di...	ORPHA:589618
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Facial hypotonia, Overweight, Hypotonia, Spastic dysarthria, Difficulty walking, D...	ORPHA:280763
Episodic Ataxia, Type 9	Episodic ataxia, Dystonia	OMIM:618924
Developmental And Epileptic Encephalopathy 53	Hypotonia, Spastic tetraplegia, Dystonia	OMIM:617389
Early-Onset X-Linked Optic Atrophy	Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor	ORPHA:98890
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Paraparesis, Focal-onset seizure, Choreoathetosis, Myoclo...	ORPHA:726
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Overweight, Inability to walk, Spastic paraplegia, Hypertonia, Dystonia, Neonatal ...	OMIM:614066
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Bruxism, Focal impaired awar...	OMIM:620149
Oromandibular Dystonia	Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Limb dystonia,...	ORPHA:93958
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Dystonia, Failure to thrive	OMIM:250620
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor...	OMIM:271980
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr...	ORPHA:309246
Leukodystrophy, Hypomyelinating, 6	Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Spasticity	OMIM:612438
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Inability to walk, Opisthotonus, Cho...	OMIM:619653
Lopes-Maciel-Rodan Syndrome	Axial hypotonia, Dystonia, Tremor, Unsteady gait, Bruxism, Hypertonia, Agitation, Dysphagia, Spas...	OMIM:617435
Developmental And Epileptic Encephalopathy 64	Inability to walk, Chorea, Hemiparesis, Seizure, Self-injurious behavior, Status epilepticus, Bru...	OMIM:618004
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Axial hypotonia, Ataxia, Hypotonia, Falls, Generalized hypotonia, Dystonia, Spasticity	OMIM:619224
Pontocerebellar Hypoplasia, Type 2B	Clonus, Tonic seizure, Chorea, Babinski sign, Opisthotonus, Myoclonic seizure, Seizure, Extrapyra...	OMIM:612389
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Dystonia, Limb h...	ORPHA:70594
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep...	OMIM:164400
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Lower limb spasticity, Pain insensitivity, Ataxia, Tonic seizure, Rigidity, Repetitive compulsive...	OMIM:300260
Developmental And Epileptic Encephalopathy 40	Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity	OMIM:617065
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Chorea, Athetosis, Seizure, Hypertonia, Self-mutilation	ORPHA:52503
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Seizure,...	OMIM:610217
Aicardi-Goutieres Syndrome 3	Spasticity, Hypotonia, Generalized hypotonia, Dystonia	OMIM:610329
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Generalized hypotonia, Dy...	OMIM:233910
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, Generalized-onset seizure, Aggressive beh...	ORPHA:228360
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Pontocerebellar Hypoplasia, Type 14	Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia	OMIM:619301
Developmental And Epileptic Encephalopathy 67	Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia	OMIM:618141
Pelizaeus-Merzbacher Disease, Classic Form	Axial hypotonia, Ataxia, Dystonia, Spastic tetraparesis, Dystonic gait, Hypotonia, Titubation, At...	ORPHA:280219
Hsd10 Disease	Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spast...	ORPHA:391417
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia	ORPHA:330050
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Axial hypotonia, Ataxia, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia	OMIM:615905
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, H...	OMIM:128100
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis, Dystonia	OMIM:612126
Ritscher-Schinzel Syndrome 4	Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch...	OMIM:619435
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Lower limb spasticity, Ataxia, Spastic tetraparesis, Spastic paraplegia, Dysmetria, Dysdiadochoki...	OMIM:612319
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Progressive cerebellar ataxia, Hypotonia, Dystonia	ORPHA:139485
Developmental And Epileptic Encephalopathy 16	Severe muscular hypotonia, Hypotonia, Dystonia	OMIM:615338
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Familial Paroxysmal Ataxia	Torticollis, Ataxia, Dystonia	ORPHA:97
Spastic Paraplegia 86, Autosomal Recessive	Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis, Febrile seizure (w...	OMIM:619735
Mitochondrial Complex I Deficiency, Nuclear Type 15	Failure to thrive, Spastic tetraplegia, Generalized hypotonia, Dystonia	OMIM:618237
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:609056
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Dysphagia, Spastic paraparesis, ...	OMIM:614487
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Difficul...	ORPHA:420492
Dystonia 21	Blepharospasm, Torticollis, Laryngeal dystonia	OMIM:614588
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Ataxia, Obesity, Dystonia	ORPHA:459033
Spinocerebellar Ataxia 21	Ataxia, Postural tremor, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Co...	OMIM:607454
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Ataxia, Hand tremor, Dystonia	OMIM:615889
Leber Optic Atrophy And Dystonia	Athetosis, Spasticity, Dystonia, Dysphagia	OMIM:500001
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Gait disturbance, Dystonia	ORPHA:314632
Progressive Supranuclear Palsy	Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharos...	ORPHA:683
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Dystonia, Ataxia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait ataxia, Dysphagia, A...	OMIM:601338
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Falls, Dystonia	ORPHA:240085
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Ataxia, Hypotonia, Dystonia	OMIM:620094
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Dystonia, Hypertonia, Infantile muscular hypotonia	ORPHA:26792
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Pseudobulbar paralysis, Gait disturbance, Dystonia, Impaired vibration sen...	ORPHA:101006
Charcot-Marie-Tooth Disease, Type 4K	Ataxia, Difficulty walking, Dystonia	OMIM:616684
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm	OMIM:606324
Pontocerebellar Hypoplasia, Type 15	Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia	OMIM:619302
Combined Oxidative Phosphorylation Deficiency 35	Spasticity, Failure to thrive, Generalized hypotonia, Dystonia	OMIM:617873
Developmental And Epileptic Encephalopathy 1	Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset seizure, Abnormal pyramidal si...	OMIM:308350
Leukodystrophy, Hypomyelinating, 15	Dystonia, Ataxia, Athetosis, Dysphagia, Loss of ambulation, Spasticity, Failure to thrive, Intent...	OMIM:617951
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Spinocerebellar Ataxia Type 6	Dystonia, Unsteady gait, Gait ataxia, Blepharospasm, Progressive cerebellar ataxia, Dysphagia, Ch...	ORPHA:98758
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Friedreich Ataxia	Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a...	ORPHA:95
Combined Oxidative Phosphorylation Deficiency 50	Generalized dystonia, Dysphagia	OMIM:619025
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive 31	Axial hypotonia, Ataxia, Dystonia, Tremor, Bruxism, Choreoathetosis, Dysphagia, Self-mutilation	OMIM:619422
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ataxia, Unsteady gait, Spastic paraplegia, Spastic tetraplegia, Dystonia, Neonatal hypotonia	OMIM:245349
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Dystonia, Ataxia, Head titubation, Dysesthesia, Generalized hypotonia, Difficulty walking, Progre...	ORPHA:527497
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Head tremor, Dystonia	OMIM:619724
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Unsteady gait, Obesity, Difficulty...	ORPHA:464282
Corticobasal Syndrome	Somatic sensory dysfunction, Dystonia, Akinesia, Tremor, Gait disturbance, Limb dystonia, Progres...	ORPHA:454887
Slc35A2-Cdg	Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct...	ORPHA:356961
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa...	OMIM:312080
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia	OMIM:250850
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Axial hypotonia, Ataxia, Facial hypotonia, Dystonia, Tremor, Spasti...	OMIM:300055
Dystonia-Deafness Syndrome 1	Generalized dystonia, Small for gestational age, Oculogyric crisis, Leg dystonia, Pseudobulbar pa...	OMIM:607371
Hereditary Methemoglobinemia	Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity	ORPHA:621
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia	OMIM:614932
Pontocerebellar Hypoplasia, Type 2A	Restlessness, Chorea, Opisthotonus, Seizure, Extrapyramidal dyskinesia, Dysphagia	OMIM:277470
Developmental And Epileptic Encephalopathy 29	Axial hypotonia, Chorea, Blepharospasm, Limb dystonia, Spasticity, Failure to thrive	OMIM:616339
Baralle-Macken Syndrome	Inability to walk, Obesity, Dystonia, Neonatal hypotonia, Spasticity	OMIM:619255
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Akinesia, Aggressive behavior, Tremor, Rigidity, Spastic paraplegi...	OMIM:606693
Leukodystrophy, Hypomyelinating, 2	Axial hypotonia, Dystonia, Ataxia, Rigidity, Head titubation, Choreoathetosis, Progressive spasti...	OMIM:608804
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Dysphagia, Spastic parapares...	ORPHA:313772
Spastic Ataxia 3, Autosomal Recessive	Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation, Spasticity	OMIM:611390
Perry Syndrome	Akinesia, Tremor, Rigidity, Weight loss, Inappropriate behavior, Disinhibition, Dystonia, Short s...	OMIM:168605
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Choreoathetosis, Ataxia, Generalized hypotonia, Dystonia	OMIM:618416
Leukodystrophy, Hypomyelinating, 9	Lower limb spasticity, Axial hypotonia, Ataxia, Dysmetria, Pseudobulbar paralysis, Dystonia, Inte...	OMIM:616140
Atypical Juvenile Parkinsonism	Resting tremor, Akinesia, Rigidity, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Sho...	ORPHA:391411
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Dystonia	ORPHA:254881
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia	ORPHA:369840
Deafness, Dystonia, And Cerebral Hypomyelination	Failure to thrive, Dystonia	OMIM:300475
Tibial Hemimelia	Absent tibia	OMIM:275220
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Lower limb spasticity, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower limb hypertonia, Difficul...	ORPHA:438114
Pontocerebellar Hypoplasia Type 2	Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, Infantile spasms, ...	ORPHA:2524
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Congenital Arthrogryposis With Anterior Horn Cell Disease	Dystonia, Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Inabili...	OMIM:611890
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Aggressive behavior, Tremor, Rigidity, Spastic paraparesis	ORPHA:329284
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Seizure, Hypertonia...	OMIM:617864
Aicardi-Goutieres Syndrome 6	Loss of ambulation, Rigidity, Tremor, Dystonia	OMIM:615010
Peroxisomal Acyl-Coa Oxidase Deficiency	Hypotonia, Dysphagia, Hypertonia, Dystonia, Neonatal hypotonia	OMIM:264470
Christianson Syndrome	Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repe...	ORPHA:85278
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat...	OMIM:619913
D-Glyceric Aciduria	Seizure, Chorea, Myoclonus, Spasticity	ORPHA:941
Hypermanganesemia With Dystonia 2	Axial hypotonia, Generalized dystonia, Dystonia, Tremor, Inability to walk, Scissor gait, Hypoton...	OMIM:617013
Hsd10 Mitochondrial Disease	Restlessness, Aggressive behavior, Spastic tetraplegia, Choreoathetosis, Seizure, Agitation, Spas...	OMIM:300438
Allan-Herndon-Dudley Syndrome	Axial hypotonia, Ataxia, Small for gestational age, Failure to thrive in infancy, Spastic tetrapl...	ORPHA:59
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Hemiplegia/hemiparesis, Chorea	ORPHA:289916
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk...	ORPHA:157846
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc...	ORPHA:216866
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Dystonia, Generalized hypotonia, Dysphagia	OMIM:618230
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Tremor-Ataxia-Central Hypomyelination Syndrome	Dystonia, Ataxia, Postural tremor, Impaired distal proprioception, Impaired vibration sensation i...	ORPHA:447896
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal...	OMIM:607143
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Alternating Hemiplegia Of Childhood	Ataxia, Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Ch...	ORPHA:2131
Hemiparkinsonism-Hemiatrophy Syndrome	Tremor, Generalized hypotonia, Difficulty walking, Dystonia	ORPHA:306669
Brain-Lung-Thyroid Syndrome	Hyperactivity, Incoordination, Ataxia, Involuntary movements, Abnormal eating behavior, Chorea, A...	ORPHA:209905
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, E...	OMIM:312170
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep...	OMIM:606002
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Dystonia, Ataxia, Aggressive behavior, Tremor, Gait apraxia, Dysmetria, Gait atax...	OMIM:615157
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, M...	OMIM:272750
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Dystonia, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia...	ORPHA:98760
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Tonic seizure, Aggressive b...	OMIM:619580
Progressive Myoclonic Epilepsy With Dystonia	Generalized neonatal hypotonia, Dystonia	ORPHA:352596
Leukodystrophy, Hypomyelinating, 20	Torticollis, Hypertonia, Spastic tetraplegia, Dystonia	OMIM:619071
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Postural tremor, Tremor, Dysmetria, Dysphagia, Loss of ambulation, Spasticity	OMIM:607694
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Ataxia, Obesity, Dystonia	OMIM:616267
3-Methylglutaconic Aciduria, Type Ix	Epileptic spasm, Clonus, Aggressive behavior, Choreoathetosis, Seizure, Hypertonia, Spasticity	OMIM:617698
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Dystonia, Aggressive behavior, D...	OMIM:200150
Birk-Aharoni Syndrome	Inability to walk, Chorea, Spastic tetraplegia	OMIM:620071
Mitochondrial Complex I Deficiency, Nuclear Type 5	Axial hypotonia, Ataxia, Dystonia, Hypotonia, Generalized hypotonia, Dysphagia, Failure to thrive	OMIM:618226
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset...	OMIM:610042
Manganese Poisoning	Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Hypertonia, Ga...	ORPHA:306682
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Hypertonia, Gait disturbance, Dystonia	ORPHA:96
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Gait disturbance, Dystonia, Spasticity	ORPHA:542310
Developmental And Epileptic Encephalopathy 84	Epileptic spasm, Chorea, Babinski sign, Opisthotonus, Seizure, Spasticity	OMIM:618792
Partington Syndrome	Lower limb spasticity, Gait disturbance, Limb dystonia	ORPHA:94083
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Seizure, Gait disturbance	OMIM:250100
Sulfite Oxidase Deficiency, Isolated	Axial hypotonia, Ataxia, Generalized dystonia, Choreoathetosis, Hypertonia, Agitation, Generalize...	OMIM:272300
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Combined Oxidative Phosphorylation Deficiency 27	Bilateral tonic-clonic seizure, Chorea, Opisthotonus, Status epilepticus, Myoclonus, Tetraparesis	OMIM:616672
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Hypotonia, Choreoathetosis, Gait disturbance, Dys...	ORPHA:702
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
4H Leukodystrophy	Dystonia, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Dysphagia	ORPHA:289494
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Tremor, Rigidity, Focal dystonia, Dysphagia, Progressive extrapyrami...	ORPHA:240103
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Episodic Ataxia, Type 2	Episodic ataxia, Progressive cerebellar ataxia, Paresthesia, Dystonia	OMIM:108500
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ...	OMIM:620023
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
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Dystonia, Hypotonia, Generalized hypotonia, Truncal ataxia, Failure to thrive, Intention tremor	OMIM:614407
Pontocerebellar Hypoplasia, Type 8	Involuntary movements, Chorea, Gait ataxia, Hypertonia, Dysphagia, Spasticity	OMIM:614961
Choreoacanthocytosis	Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Self-...	ORPHA:2388
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Tremor, Inability to walk, Rigidity, Head titubation, Hypotonia, Gait ataxia, Choreoath...	OMIM:618877
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Gaucher Disease Type 2	Spasticity, Dystonia, Dysphagia	ORPHA:77260
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Axial hypotonia, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia...	OMIM:617710
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity	OMIM:619616
Leigh Syndrome	Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:256000
Dihydrolipoamide Dehydrogenase Deficiency	Ataxia, Hypotonia, Dystonia	OMIM:246900
Siddiqi Syndrome	Limb dystonia	OMIM:618635
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Ataxia, Infantile spasms, Tremor, Rigidity, Chorea, Athetosis, Seizure, ...	ORPHA:25
Kaya-Barakat-Masson Syndrome	Axial hypotonia, Spastic tetraplegia, Generalized hypotonia, Limb dystonia, Spasticity	OMIM:619125
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Hypotonia, Atten...	OMIM:617854
Ataxia With Vitamin E Deficiency	Ataxia, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Ga...	OMIM:277460
Amyotrophic Dystonic Paraplegia	Spastic paraplegia, Dystonia	OMIM:105300
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Spasticity, Hypotonia, Generalized hypotonia, Dystonia	OMIM:616277
Spinocerebellar Ataxia Type 3	Progressive cerebellar ataxia, Dystonia	ORPHA:98757
Leukodystrophy, Hypomyelinating, 4	Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Seizure, Progressive spasticity	OMIM:612233
Atypical Progressive Supranuclear Palsy Syndrome	Extrapyramidal muscular rigidity, Tremor, Rigidity, Unsteady gait, Focal dystonia, Blepharospasm,...	ORPHA:99750
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Chorea, Babinski sign, Ataxia	OMIM:604168
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Chorea	OMIM:616744
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Impulsivity, Tremor, Oroman...	OMIM:614298
Harel-Yoon Syndrome	Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity	OMIM:617183
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Infantile spasms, Aggressive behavior, Chorea, Spastic tetraplegia, Gait ataxia, Seizure,...	OMIM:618321
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Inability to walk, Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:614739
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ...	OMIM:619777
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Mitochondrial Complex I Deficiency, Nuclear Type 26	Choreoathetosis, Limb hypertonia, Dystonia, Dysphagia	OMIM:618247
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dystonia, Dysphagia	OMIM:304700
Systemic Lupus Erythematosus 17	Chorea	OMIM:301080
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Truncal ataxia, Dystonia, Neonatal hypotonia, Spasticity	OMIM:252011
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Hypotonia, Focal dystonia, Spastic dysarthria, Progressive gait ataxia, Loss of ...	ORPHA:447757
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Bruxism, Athetosis, Seizure, Apraxia, Spasticity, Abnormal repetitive m...	OMIM:613454
Mcleod Syndrome	Generalized-onset seizure, Chorea, Seizure, Compulsive behaviors, Impaired vibration sensation at...	OMIM:300842
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Focal dystonia, Shuffling gait, Attent...	ORPHA:52368
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hypotonia, Choreoathetosis, Dystonia, Failure to thrive	ORPHA:79312
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Ataxia, Involuntary movements, Inability to walk, Chorea, Seizure, Bruxism, Stereotypical hand wr...	OMIM:617804
Combined Oxidative Phosphorylation Defect Type 13	Axial hypotonia, Choreoathetosis, Lower limb hypertonia, Generalized hypotonia, Limb dystonia, Fa...	ORPHA:319514
Glutaric Acidemia I	Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst...	OMIM:231670
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Blepharospasm, Falls, Gai...	ORPHA:240071
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Obesity, Generalized hypotonia, Dystonia	ORPHA:480907
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Hypotonia, Self-injurious behavior, Generalized hypotonia, Dystonia, Recurrent hand flapping	OMIM:617268
Combined Oxidative Phosphorylation Deficiency 32	Dystonia, Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dysphagia, Spasticity	OMIM:617664
2,4-Dienoyl-Coa Reductase Deficiency	Ataxia, Hypotonia, Choreoathetosis, Dystonia, Spasticity, Failure to thrive	OMIM:616034
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Seizure, Hyp...	OMIM:615356
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Dystonia, Spasticity, Limb hypertonia	OMIM:618087
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Axial hypotonia, Dystonia	ORPHA:289504
Bilateral Generalized Polymicrogyria	Axial hypotonia, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Self-injuriou...	ORPHA:208447
Rett Syndrome	Dystonia, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Spasticity, Stereotypical...	OMIM:312750
Gm1-Gangliosidosis, Type Iii	Ataxia, Dystonia	OMIM:230650
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Rigidity, Hand tremor, Dysphagia, Gait disturbance, Shuffling gait, Spastic paraparesis...	ORPHA:289560
Metachromatic Leukodystrophy, Adult Form	Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Sei...	ORPHA:309271
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Choreoathetosis, Gait imbalance, ...	ORPHA:64753
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty walking, Dystonia, Spastic...	OMIM:617807
Infantile Neuroaxonal Dystrophy	Hyperactivity, Axial hypotonia, Ataxia, Dystonia, Impulsivity, Spastic tetraparesis, Unsteady gai...	ORPHA:35069
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Head titubation, Hypotonia, Truncal ataxia, Failure to thrive	ORPHA:88639
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Pontocerebellar Hypoplasia, Type 9	Axial hypotonia, Facial hypotonia, Dysphagia, Hypertonia, Dystonia, Spasticity	OMIM:615809
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:614702
Nabais Sa-De Vries Syndrome, Type 2	Hemiparesis, Seizure, Chorea	OMIM:618829
Intellectual Developmental Disorder, Autosomal Dominant 43	Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Hypotonia, Dystonia, Failure to thrive	OMIM:616977
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Axial hypotonia, Hypotonia, Spastic tetraparesis, Dystonia	OMIM:617668
Mucolipidosis Iv	Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia	OMIM:252650
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Alzheimer Disease 3	Spastic tetraparesis, Dysphagia, Gait disturbance, Dystonia, Optic ataxia	OMIM:607822
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Akinesia, Aggressive behavior, Tremor, Rigidity, Spastic paraparesis	OMIM:300894
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Ataxia, Postural tremor, Rigidity, Impaired vibration sensatio...	ORPHA:98808
Alexander Disease	Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Seizure, Self-injurious beh...	ORPHA:58
Shox-Related Short Stature	Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth...	ORPHA:314795
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ...	ORPHA:48818
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Inte...	OMIM:614381
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Continuous Spikes And Waves During Sleep	Dystonia, Aggressive behavior	ORPHA:725
Leigh Syndrome	Ataxia, Involuntary movements, Infantile spasms, Chorea, Spastic diplegia, Choreoathetosis, Athet...	ORPHA:506
Rheumatic Fever	Anorexia, Chorea, Gait disturbance, Hemiballismus, Fasciculations	ORPHA:3099
Pyruvate Dehydrogenase Deficiency	Ataxia, Tremor, Hypotonia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity	ORPHA:765
Mitochondrial Complex I Deficiency, Nuclear Type 13	Failure to thrive, Spasticity, Generalized dystonia	OMIM:618235
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia, Ne...	ORPHA:431361
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Dystonia, Impaired distal proprioception, Rigidity, Impaired distal vibration sensation, Truncal ...	OMIM:258450
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Autosomal Recessive Spastic Paraplegia Type 78	Progressive cerebellar ataxia, Progressive gait ataxia, Progressive spastic quadriplegia, Difficu...	ORPHA:513436
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Loss of ability to walk in early childhood, Small for gestational age, Inability to walk, Hypoton...	OMIM:612073
Coenzyme Q10 Deficiency, Primary, 5	Hypertonia, Hypotonia, Generalized hypotonia, Dystonia	OMIM:614654
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Dystonia, Infantile muscular hypotonia	ORPHA:457205
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Ataxia, Tremor, Gait ataxia, Limb dystonia, Spasticity	ORPHA:363400
Niemann-Pick Disease Type C	Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Comp...	ORPHA:646
Cimdag Syndrome	Seizure, Chorea, Ataxia, Spasticity	OMIM:619273
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ...	OMIM:617988
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Rigidity, Neuromuscular dyspha...	ORPHA:227510
Liang-Wang Syndrome	Axial hypotonia, Ataxia, Dystonia	OMIM:618729
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Axial hypotonia, Aggressive behavior, Hypotonia, Hypertonia, Gait disturbance, ...	OMIM:300352
Machado-Joseph Disease	Impaired vibratory sensation, Dystonia, Ataxia, Rigidity, Truncal ataxia, Limb ataxia, Progressiv...	OMIM:109150
Lipoyltransferase 1 Deficiency	Axial hypotonia, Hypotonia, Spastic tetraparesis, Dystonia	OMIM:616299
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized myoclonic seizure, Infantile spasms, Inability to walk, Chorea, Generalized non-motor...	ORPHA:404454
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P...	ORPHA:206594
Leber Optic Atrophy	Postural tremor, Ataxia, Dystonia	OMIM:535000
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Spasticity, Dystonia, Dysphagia	OMIM:607236
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Loss of ambulation, Gait disturbance, Dystonia	OMIM:167320
Hsd10 Disease, Infantile Type	Restlessness, Dystonia, Spastic tetraparesis, Hypotonia, Spastic diplegia, Choreoathetosis, Dysph...	ORPHA:391428
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra...	OMIM:307800
Rett Syndrome	Dystonia, Inability to walk, Gait disturbance, Agitation, Difficulty walking, Infantile muscular ...	ORPHA:778
Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Dystonia, Impulsivity, Rigidity, Leg dystonia, Choreoathetosis, Tip-toe gait, Gait...	ORPHA:157850
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, ...	OMIM:608643
Classic Galactosemia	Ataxia, Postural tremor, Gait disturbance, Gait imbalance, Attention deficit hyperactivity disord...	ORPHA:79239
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Birk-Landau-Perez Syndrome	Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Limb ataxia, Choreoathetosis, Ap...	OMIM:617595
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at...	ORPHA:102
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Spasticity, Ataxia, Dystonia	OMIM:617341
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab...	OMIM:616393
Developmental And Epileptic Encephalopathy 38	Dystonia, Axial hypotonia, Ataxia, Limb hypertonia	OMIM:617020
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Writer's cramp, Fatigable weakness of distal limb muscles, Impaired vibration sensation in the lo...	ORPHA:324442
Congenital Disorder Of Deglycosylation 1	Restlessness, Pain insensitivity, Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Dysme...	OMIM:615273
Filippi Syndrome	Decreased body weight, Dystonia	OMIM:272440
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Gait ataxia, Seizure, Hypertoni...	ORPHA:255210
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme...	ORPHA:522077
Posttransplant Acute Limbic Encephalitis	Ataxia, Dystonia	ORPHA:163921
Hengel-Maroofian-Schols Syndrome	Inability to walk, Hypotonia, Gait imbalance, Dystonia, Spasticity	OMIM:619641
Snijders Blok-Fisher Syndrome	Choreoathetosis, Seizure, Spasticity, Opisthotonus	OMIM:618604
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention deficit hyperactivity ...	OMIM:619680
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at...	ORPHA:98933
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Bruxism, Gait disturbance, Agitation, Dystonia, Recurrent hand flapping	OMIM:617903
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Nmda Receptor Encephalitis	Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset seizure, Chorea, Hypersex...	ORPHA:217253
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Ataxia, Inability to walk, Hypotonia, Dystonia	ORPHA:79243
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Neur...	ORPHA:466722
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Progressive cerebellar ataxia, Dystonia, Dysphagia	OMIM:618868
Hereditary Late-Onset Parkinson Disease	Resting tremor, Dystonia, Impulsivity, Akinesia, Rigidity, Weight loss, Agitation, Shuffling gait...	ORPHA:411602
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses...	ORPHA:96334
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Broad-based gait, Hypertonia, Gait disturbance, Arm dystonia, Difficulty wal...	ORPHA:79244
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Spastic paraplegia, Failure to thrive in infancy	OMIM:619026
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Chromosome 18Q Deletion Syndrome	Broad-based gait, Tremor, Chorea, Poor coordination, Seizure	OMIM:601808
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Rigidity, Gait disturbance, Shuffling gait, Dysphagia, Loss of ambulation	OMIM:168601
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Tremor, Rigidity, Dysphagia, Short stepped shuffling gait	OMIM:168600
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Rigidity, Agitation, Gait imbalance, Dystonia, Spasticity	ORPHA:2828
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Dysphagia, Degeneration of anterior horn cells, Progressi...	ORPHA:276244
Developmental And Epileptic Encephalopathy 51	Inability to walk, Failure to thrive, Hypotonia, Dystonia	OMIM:617339
Aicardi-Goutieres Syndrome 4	Spasticity, Dystonia	OMIM:610333
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Choreoathetosis, Seizure, Tetraparesis	ORPHA:27
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Spastic tetraparesis, Dystonia	ORPHA:404451
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Hypermanganesemia With Dystonia 1	Tremor, Rigidity, Steppage gait, Dystonia, Spastic paraparesis	OMIM:613280
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Generalized dystonia, Spastic tetraparesis, Dysphagia, Dystonia, Failure to thrive	OMIM:620358
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Dystonia, Tremor, Unsteady gait, Hypotonia, Weight loss, Gait distu...	ORPHA:354
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Spastic tetraplegia, Dysphagia, Opisthotonus, Hypotonia, Hypertonia, L...	OMIM:619847
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Dysmetria, Arm dystonia, Gait distur...	ORPHA:88644
Postencephalitic Parkinsonism	Resting tremor, Oculogyric crisis, Akinesia, Rigidity, Cogwheel rigidity, Paresthesia, Dysphagia,...	ORPHA:97349
Niemann-Pick Disease, Type C1	Dystonia, Ataxia, Hypotonia, Gait ataxia, Generalized hypotonia, Dysphagia, Spasticity	OMIM:257220
Rasmussen Subacute Encephalitis	Inability to walk, Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder	ORPHA:1929
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Spondyloenchondrodysplasia	Seizure, Chorea, Abnormal lateral ventricle morphology, Spasticity	ORPHA:1855
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Progressive spastic paraparesis, Progressive spastic quadriplegia, Progress...	ORPHA:329308
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Akinesia, Rigidity, Limb dystonia, Spasticity	OMIM:616840
Lesch-Nyhan Syndrome	Dystonia, Hypotonia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Dysphagia, Spasticity	OMIM:300322
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Resting tremor, Upper limb postural tremor, Aggressive behavior, Tremor, Rigidity...	OMIM:612953
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H...	ORPHA:447997
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Inability to walk, Chorea, Tip-toe gait, Dysphagia	ORPHA:268
Parkinson Disease 20, Early-Onset	Dystonia, Tremor, Rigidity, Gait disturbance, Shuffling gait, Dysphagia, Short stepped shuffling ...	OMIM:615530
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Progressive gait ataxia, Tip-toe gait, Decerebrate rigidity, Generalized hypotonia, ...	ORPHA:309256
Congenital Disorder Of Glycosylation, Type Ii	Decreased body weight, Generalized hypotonia, Dystonia	OMIM:607906
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Axial hypotonia, Dystonia	OMIM:617762
Isolated Atp Synthase Deficiency	Spastic paraplegia, Ataxia, Hypotonia, Dystonia	ORPHA:254913
Proximal 16P11.2 Microdeletion Syndrome	Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, Failure to thrive, ...	ORPHA:261197
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Rigidity, Phonic tics, Choreoathetosis, Blepha...	OMIM:234200
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Spasticity, Hypotonia, Dystonia	OMIM:619286
Autosomal Recessive Cutis Laxa Type 2A	Ataxia, Inability to walk, Hypotonia, Athetosis, Dystonia, Spasticity	ORPHA:357058
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Catastrophic Antiphospholipid Syndrome	Seizure, Chorea	ORPHA:464343
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
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetraplegia, Dystonia	ORPHA:3240
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Dystonia, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Difficulty...	OMIM:610978
Wars2-Related Combined Oxidative Phosphorylation Defect	Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Di...	ORPHA:572798
Machado-Joseph Disease Type 1	Dysphagia, Progressive cerebellar ataxia, Progressive gait ataxia, Dystonia, Spasticity	ORPHA:276238
Machado-Joseph Disease Type 2	Dysphagia, Progressive cerebellar ataxia, Progressive gait ataxia, Dystonia, Spasticity	ORPHA:276241
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Dystonia, Small for gestational age, Failure to thrive in infancy, Hypotonia, D...	OMIM:618891
Early Infantile Epileptic Encephalopathy	Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Bilateral tonic-clo...	ORPHA:1934
Episodic Ataxia Type 1	Choreoathetosis, Poor coordination, Hypertonia, Clumsiness	ORPHA:37612
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia	OMIM:277410
Dystonia-Aphonia Syndrome	Generalized dystonia, Unsteady gait, Gait disturbance, Dysphagia, Oromandibular dystonia	ORPHA:412217
Mitochondrial Complex I Deficiency, Nuclear Type 28	Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramidal sign, Choreoatheto...	OMIM:618249
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Neuropathy, Congenital Hypomyelinating, 3	Spasticity, Cachexia, Dystonia	OMIM:618186
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Propionic Acidemia	Failure to thrive, Dystonia, Axial hypotonia, Limb hypertonia	OMIM:606054
Pontocerebellar Hypoplasia, Type 7	Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Tongue fasciculat...	OMIM:614969
Kcnq2-Related Epileptic Encephalopathy	Inability to walk, Hypotonia, Dystonia	ORPHA:439218
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Axial hypotonia, Limb dystonia	OMIM:620269
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Ankle clonus, Exaggerated startle response, Pes cavus, Absent Achilles reflex	OMIM:609541
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Aicardi-Goutieres Syndrome 9	Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Lower ...	OMIM:619487
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Dysphagia, Limb hypertonia	OMIM:619909
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ankle clonus, Exaggerated startle response, Overlapping toe	OMIM:618598
Parkinsonian-Pyramidal Syndrome	Rigidity, Dysphagia, Shuffling gait, Dystonia, Spasticity, Intention tremor	ORPHA:171695
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Dystonia, Neonatal hypotonia, Spasticity	OMIM:616271
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Ataxia, Small for gestational age, Hypotonia, Dysphagia, Choreoathetosis, Dystonia, Failure to th...	OMIM:615471
Combined Oxidative Phosphorylation Deficiency 57	Small for gestational age, Hypotonia, Dystonia	OMIM:620167
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Metachromatic Leukodystrophy, Juvenile Form	Progressive gait ataxia, Decerebrate rigidity, Generalized hypotonia, Dystonia, Spasticity, Inten...	ORPHA:309263
Pseudo-Torch Syndrome 1	Axial hypotonia, Hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:251290
Alg3-Cdg	Hypertonia, Hypotonia, Spastic tetraparesis, Dystonia	ORPHA:79321
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Abnormal...	ORPHA:445038
Idiopathic Camptocormia	Abnormal synaptic transmission at the neuromuscular junction, Fatigable weakness of skeletal musc...	ORPHA:1320
Tay-Sachs Disease	Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetria, Gait disturbance, D...	ORPHA:845
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Dystonia, Axial hypotonia, Dysphagia	OMIM:617669
Pettigrew Syndrome	Aggressive behavior, Gait ataxia, Choreoathetosis, Seizure, Self-injurious behavior, Spasticity, ...	OMIM:304340
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Dystonia, Neonatal hypotonia, Acti...	ORPHA:66634
Japanese Encephalitis	Weakness due to upper motor neuron dysfunction, Bilateral tonic-clonic seizure, Anorexia, Paralys...	ORPHA:79139
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Oral-pharyngeal dysphagia, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Gait distu...	OMIM:616878
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Combined Oxidative Phosphorylation Deficiency 12	Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Neonatal hypotonia, Failure to thrive	OMIM:614924
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Metachromatic Leukodystrophy	Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive spasticity, Dys...	ORPHA:512
Coach Syndrome 1	Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity	OMIM:216360
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Hypotonia, Progressive spastic quadriplegia, Dystonia, Im...	ORPHA:521426
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Inability to walk, Spastic tetraplegia, Spastic diplegia, Dystonia, ...	ORPHA:300570
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Dystonia, Axial hypotonia, Generalized hypotonia, Limb hypertonia	OMIM:616875
Niemann-Pick Disease, Type C2	Ataxia, Hypotonia, Dysphagia, Dystonia, Spasticity, Abnormal repetitive mannerisms	OMIM:607625
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Dystonia	OMIM:616113
Triosephosphate Isomerase Deficiency	Tremor, Unsteady gait, Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:615512
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Dystonia	ORPHA:453533
Wieacker-Wolff Syndrome	Spasticity, Hypotonia, Generalized hypotonia, Dystonia	OMIM:314580
Hyperekplexia 1	Exaggerated startle response, Hip dislocation	OMIM:149400
Caribbean Parkinsonism	Rigidity, Progressive gait ataxia, Action tremor, Dystonia	ORPHA:97355
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Hyporeflexia of lower limbs, Exaggerated startle response, Pes cavus	ORPHA:320406
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Choreoathetosis, Progressive cerebellar ataxia, Dysdiadochokin...	OMIM:208900
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Hypotonia, Dystonia	OMIM:619167
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Hip dislocation,...	OMIM:617301
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Dystonia, Axial hypotonia, Spasticity, Dysphagia	ORPHA:500144
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypotonia, Dystonia	OMIM:614105
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Rigidity, Dysdiadochokinesis, Hypertonia, Gait disturbance, Difficulty walking, Truncal...	ORPHA:309854
Lipoid Proteinosis	Dystonia, Dysphagia	ORPHA:530
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Dystonia, Ataxia, Dysphagia, Progressive spasticity, Infantile muscular hypotonia, Spasticity, Ab...	ORPHA:496641
Neuroleptic Malignant Syndrome	Extrapyramidal muscular rigidity, Tremor, Chorea, Agitation, Dysphagia	ORPHA:94093
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, Limb dystonia, Neonatal hypotonia, Spasticity, Abnorm...	ORPHA:457351
Pyruvate Carboxylase Deficiency	Failure to thrive, Dystonia, Ataxia, Anorexia, Tremor, Hypotonia, Tip-toe gait, Abnormal temper t...	ORPHA:3008
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Neurodevelopmental Disorder With Spasticity And Poor Growth	Axial hypotonia, Ataxia, Generalized dystonia, Opisthotonus, Limb hypertonia, Spasticity, Failure...	OMIM:618076
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Clinodactyly of the 5th finger, Truncal titubation	OMIM:618056
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypertonia, Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms, In...	OMIM:619475
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, D...	ORPHA:79255
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Aicardi-Goutieres Syndrome 1	Axial hypotonia, Inability to walk, Dystonia, Spasticity, Self-mutilation	OMIM:225750
Mercury Poisoning	Tremor, Anorexia, Dystonia	ORPHA:330021
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Dystonia, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Gait disturbance, Gait imb...	OMIM:300966
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia, Dysphagia	ORPHA:79107
Chromosome 18P Deletion Syndrome	Small for gestational age, Hypotonia, Dystonia	OMIM:146390
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dystonia, Ataxia, Head titubation, Dysmetria, Dysphagia, Intention tremor	OMIM:619708
Combined Oxidative Phosphorylation Deficiency 29	Spasticity, Generalized hypotonia, Dystonia	OMIM:616811
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long finge...	OMIM:617527
Adult-Onset Dystonia-Parkinsonism	Tremor, Rigidity, Dysphagia, Focal dystonia, Dystonia, Spasticity	ORPHA:199351
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Menkes Disease	Seizure, Chorea, Hypertonia, Spasticity	ORPHA:565
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, Dystonia, Aggressive behavior, Inability to walk, Hypotonia, Phonic tics, Attentio...	OMIM:616973
Blepharonasofacial Malformation Syndrome	Torsion dystonia	ORPHA:1252
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Spastic paraplegia, Dysmetria,...	ORPHA:171629
Holoprosencephaly	Seizure, Chorea, Spasticity	ORPHA:2162
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive beh...	OMIM:620330
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Small for gestational age, Hypotonia, Spastic tetraplegia, Hypertonia, Dystonia, Failure to thrive	OMIM:620024
Supranuclear Palsy, Progressive, 1	Limb dystonia, Axial dystonia, Akinesia, Tremor, Rigidity, Falls, Gait imbalance, Retrocollis, Dy...	OMIM:601104
Gabriele-De Vries Syndrome	Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Attention deficit hyperactivity...	OMIM:617557
Galloway-Mowat Syndrome 1	Axial hypotonia, Ataxia, Small for gestational age, Hypotonia, Spastic tetraplegia, Dystonia, Spa...	OMIM:251300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Lower limb spasticity, Axial hypotonia, Ataxia, Dystonia, Impulsivity, Spastic tetraplegia, Hypot...	OMIM:619950
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Pain insensitivity, Ataxia, Hypotonia, Distal sensory impairment, Painless frac...	OMIM:256810
Filippi Syndrome	Spasticity, Hypotonia, Limb dystonia	ORPHA:3255
Supranuclear Palsy, Progressive, 2	Axial dystonia, Postural tremor, Akinesia, Rigidity, Falls, Gait imbalance, Retrocollis, Dysphagia	OMIM:609454
Mitochondrial Complex I Deficiency, Nuclear Type 2	Falls, Hypotonia, Difficulty walking, Dystonia	OMIM:618222
Monosomy 18P	Generalized dystonia, Hypotonia	ORPHA:1598
Beta-Ureidopropionase Deficiency	Neonatal hypotonia, Hypotonia, Dystonia	OMIM:613161
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Dystonia, Hypertonia, Ataxia, Dysphagia	ORPHA:480864
De Sanctis-Cacchione Syndrome	Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia,...	OMIM:278800
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Self-mutilation, Dystonia	ORPHA:79233
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Tremor, Axial hypotonia, Oculogyric crisis, Hypertonia	ORPHA:1578
Cadds	Dystonia	ORPHA:369942
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Monosomy 22Q13.3	Hyperactivity, Impaired pain sensation, Hair-pulling, Seizure, Bruxism, Agenesis of corpus callosum	ORPHA:48652
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hypotonia, Limb dystonia	OMIM:604377
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Tremor, Hypotonia, Generalized hypotonia, Dystonia, Neonatal hypotonia	OMIM:610505
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Ataxia, Inability to walk, Hypotonia, Dystonia, Failure to thrive	OMIM:620083
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Tremor, Hypotonia, Hypertonia, Generalized hypotonia, Dysphagia, Failure to thrive	OMIM:617248
Hermansky-Pudlak Syndrome 10	Axial hypotonia, Generalized hypotonia, Dystonia	OMIM:617050
Familial Or Sporadic Hemiplegic Migraine	Involuntary movements, Impaired temperature sensation, Dissociated sensory loss, Focal motor seiz...	ORPHA:569
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Dystonia, Aggressive behavior, Unsteady gait, Choreoathetosis, Hypertonia, Infantile muscular hyp...	ORPHA:17
Fucosidosis	Spastic tetraplegia, Hypotonia, Dystonia, Failure to thrive, Spastic gait	OMIM:230000
Sandhoff Disease	Exaggerated startle response, Progressive psychomotor deterioration	OMIM:268800
Systemic Lupus Erythematosus	Seizure, Chorea	ORPHA:536
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal hypotonia, Dystonia	ORPHA:457193
Xeroderma Pigmentosum, Complementation Group A	Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment	OMIM:278700
Combined Oxidative Phosphorylation Deficiency 39	Spasticity, Dystonia	OMIM:618397
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Tremor, Spasticity, Ataxia, Dystonia	OMIM:612199
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Calf muscle hypertrophy, Exaggerated startle response, Elevated circulating creatine kinase conce...	OMIM:253800
Developmental And Epileptic Encephalopathy 89	Spasticity, Hypertonia, Axial hypotonia, Dystonia	OMIM:619124
Slc39A8-Cdg	Inability to walk, Severe muscular hypotonia, Failure to thrive in infancy, Dystonia	ORPHA:468699
Asparagine Synthetase Deficiency	Exaggerated startle response, Micrognathia, Tremor, Large hands, Long foot, Hypoasparaginemia	OMIM:615574
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Cerebrotendinous Xanthomatosis	Resting tremor, Somatic sensory dysfunction, Dystonia, Ataxia, Aggressive behavior, Agitation, Ga...	ORPHA:909
Primary Sjögren Syndrome	Seizure, Chorea, Somatic sensory dysfunction	ORPHA:289390
Aicardi-Goutieres Syndrome 7	Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Weight loss, Hypertonia,...	OMIM:615846
Arthrogryposis Multiplex Congenita 5	Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia	OMIM:618947
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Wilson Disease	Dystonia, Tremor, Rigidity, Hypoesthesia, Hand tremor, Dysphagia, Limb dystonia	OMIM:277900
Kufor-Rakeb Syndrome	Oculogyric crisis, Rigidity, Blepharospasm, Hypertonia, Gait disturbance, Difficulty walking, Dys...	ORPHA:306674
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger	OMIM:618367
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Brucellosis	Chorea, Anorexia	ORPHA:1304
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short...	OMIM:218330
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Spastic tetraplegia, Hyperto...	ORPHA:51
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Small for gestational age, Tremor, Truncal ataxia, Dysmetria, Hypotonia, Dyspha...	OMIM:220111
Gabriele-De Vries Syndrome	Waddling gait, Facial hypotonia, Small for gestational age, Oral-pharyngeal dysphagia, Tremor, Hy...	ORPHA:506358
Mogs-Cdg	Dystonia, Infantile muscular hypotonia	ORPHA:79330
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Legius Syndrome	Hyperactivity, Hypotonia, Attention deficit hyperactivity disorder, Dystonia	ORPHA:137605
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
African Trypanosomiasis	Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa...	ORPHA:3385
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Axial hypotonia, Dystonia	OMIM:618278
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo...	OMIM:214800
Arboleda-Tham Syndrome	Axial hypotonia, Dystonia, Hypotonia, Lower limb hypertonia, Gait imbalance, Generalized hypotoni...	OMIM:616268
Alobar Holoprosencephaly	Inability to walk, Dysphagia, Attention deficit hyperactivity disorder, Limb dystonia, Infantile ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Inability to walk, Dysphagia, Attention deficit hyperactivity disorder, Limb dystonia, Infantile ...	ORPHA:93926
Lobar Holoprosencephaly	Inability to walk, Dysphagia, Attention deficit hyperactivity disorder, Limb dystonia, Infantile ...	ORPHA:93924
Semilobar Holoprosencephaly	Inability to walk, Dysphagia, Attention deficit hyperactivity disorder, Limb dystonia, Infantile ...	ORPHA:220386
Orofaciodigital Syndrome Type 1	Tremor, Ataxia, Dystonia	ORPHA:2750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, Short 5th finge...	OMIM:619522
Woodhouse-Sakati Syndrome	Choreoathetosis, Dystonia	OMIM:241080
Woodhouse-Sakati Syndrome	Choreoathetosis, Dystonia	ORPHA:3464
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Dysphagia, Infantile...	ORPHA:438213
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 Prrt2

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 Prrt2.

There are 15 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
An Emerging Role of PRRT2 in Regulating Growth Cone Morphology.	Cells (October 2021)	Prrt2^{tm1a(KOMP)Wtsi}	PMC8534124
Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases.	Neurogenetics (June 2021)	Prrt2^{tm1a(KOMP)Wtsi}	PMC8241743
PRRT2 modulates presynaptic Ca²⁺ influx by interacting with P/Q-type channels.	Cell reports (June 2021)	Prrt2^{tm1a(KOMP)Wtsi}	PMC8220258
An interaction between PRRT2 and Na⁺/K⁺ ATPase contributes to the control of neuronal excitability.	Cell death & disease (March 2021)	Prrt2^{tm1a(KOMP)Wtsi}	33731672
Increased responsiveness at the cerebellar input stage in the PRRT2 knockout model of paroxysmal kinesigenic dyskinesia.	Neurobiology of disease (January 2021)	Prrt2^{tm1a(KOMP)Wtsi}	33515674
Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.	Neuroscience (September 2020)	Prrt2^{tm1a(KOMP)Wtsi}	32891704
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Prrt2^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Prrt2^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Prrt2^{tm1a(KOMP)Wtsi}	PMC6671969
Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons.	Cerebral cortex (New York, N.Y. : 1991) (May 2019)	Prrt2^{tm1a(KOMP)Wtsi}	29912316
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Prrt2^{tm1a(KOMP)Wtsi}	PMC6459510
Paroxysmal and cognitive phenotypes in Prrt2 mutant mice.	Genes, brain, and behavior (April 2019)	Prrt2^{tm1a(KOMP)Wtsi}	30884140
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.	Brain : a journal of neurology (April 2018)	Prrt2^{tm1b(KOMP)Wtsi}	PMC5888929
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Prrt2^{tm1a(KOMP)Wtsi}	PMC5827107
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.	Neurobiology of disease (December 2016)	Prrt2^{tm1a(KOMP)Wtsi}	PMC5321265

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MGI Allele	Allele Type	Produced
Prrt2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Prrt2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Prrt2 MGI:1916267

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Eye Morphology

DSS Histology

Anti-nuclear antibody assay

Eye Morphology

Ear epidermis immunophenotyping

Immunophenotyping

Immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Prrt2 mutations

Histopathology

IMPC related publications

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