Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Tor1a MGI:1353568

Gene Summary

Name:

torsin family 1, member A (torsin A)

Synonyms:

DQ2, torsinA, Tor1a, Dyt1

Order Alleles

IMPC Data Collections

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	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Tor1a^em1(IMPC)H	HOM		Early adult	0.00
prolonged RR interval		Tor1a^em1(IMPC)H	HET		Early adult	7.19×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

MicroCT E18.5

Embryo reconstruction

4 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Human diseases caused by Tor1a 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 Tor1a (4 diseases)
Human diseases predicted to be associated with Tor1a (1413 diseases)

The table below shows human diseases associated to Tor1a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Early-Onset Generalized Limb-Onset Dystonia	Hypertonia, Gait disturbance	ORPHA:256
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Depression, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclo...	ORPHA:36899
Arthrogryposis Multiplex Congenita 5	Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia	OMIM:618947

The table below shows human diseases predicted to be associated to Tor1a by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi...	OMIM:619565
Spinocerebellar Ataxia 37	Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Dystonia 4, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Gait ataxia, Limb d...	OMIM:128101
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Gait disturbance, Abnormality of e...	OMIM:614561
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Early-Onset Generalized Limb-Onset Dystonia	Hypertonia, Gait disturbance	ORPHA:256
Dystonia 30	Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Leg dystonia, Arm dystonia, Compul...	OMIM:619291
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co...	ORPHA:401901
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par...	ORPHA:216873
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Cerebellar vermis ...	ORPHA:248111
Huntington Disease-Like 2	Parkinsonism, Involuntary movements, Chorea, Weight loss, Dementia, Gait disturbance, Dystonia, M...	ORPHA:98934
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Babinski sign, Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia,...	OMIM:618284
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Dystonia, Progressive cerebellar ataxia, Dysphagia, Craniofacial...	OMIM:611694
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br...	ORPHA:210571
Intellectual Developmental Disorder, Autosomal Recessive 77	Unsteady gait, Head tremor, Self-biting	OMIM:619988
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Rigidity, Sensory ataxia, Dementia, Difficulty walking, Dystonia, Mental deterioration	OMIM:619661
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Autosomal Recessive Spastic Paraplegia Type 56	Unsteady gait, Spastic paraplegia, Babinski sign, Tip-toe gait, Cognitive impairment, Dystonia, S...	ORPHA:320411
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Sandhoff Disease, Adult Form	Tremor, Dysphagia, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Mental deterioration, S...	ORPHA:309169
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
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
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Weight loss, Bradykinesia, Depression, Irritability, Deme...	OMIM:606438
Spinocerebellar Ataxia Type 28	Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, D...	ORPHA:101109
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Babinski sign, Unsteady gait, Spastic paraplegia, Tip-toe gait, Cognitive impairment, Dystonia	OMIM:615030
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Limb ataxia, Dysmetria, Gait ataxia, Gl...	OMIM:213200
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ...	OMIM:617018
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykines...	ORPHA:71517
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors	OMIM:159900
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, ...	OMIM:607136
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston...	ORPHA:98811
Spastic Ataxia 1, Autosomal Dominant	Spastic ataxia, Spastic paraplegia, Dysphagia, Gait disturbance, Dystonia, Memory impairment	OMIM:108600
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Restlessness, Ataxia, Confusion, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Ir...	ORPHA:263410
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Focal dyst...	OMIM:605361
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Autosomal Dominant Focal Dystonia, Dyt25 Type	Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,...	ORPHA:329466
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Huntington Disease	Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums...	ORPHA:399
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Dysplastic corpus callosum...	OMIM:618276
Spinocerebellar Ataxia 12	Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Depression, Progressive cerebellar a...	OMIM:604326
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto...	OMIM:213600
Urocanase Deficiency	Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Dementia, Myoclonu...	OMIM:125370
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Cerebellar hypoplasia, Ataxia, Hypotonia	OMIM:213000
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ...	OMIM:128235
Huntington Disease-Like 1	Chorea, Dysmetria, Gait ataxia, Simultanapraxia, Generalized hypotonia, Clumsiness, Depression, G...	ORPHA:157941
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra...	OMIM:143100
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia	OMIM:619681
Dystonia 23	Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Cerebellar Ataxia, Cayman Type	Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia	OMIM:601238
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Axial hypotonia, Tremor, Hypoplasia of the brainstem, Agitation, Myoclonus, Compulsive behaviors,...	OMIM:619651
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Babinski sign, Impaired vibrat...	ORPHA:251282
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Abnormal pyramidal sign, Clumsiness, Dement...	ORPHA:79262
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia	OMIM:141500
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Depression, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclo...	ORPHA:36899
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig...	OMIM:236792
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Striatonigral Degeneration, Childhood-Onset	Unsteady gait, Hypotonia, Dysphagia, Ankle clonus, Hypertonia, Steppage gait, Dystonia, Loss of a...	OMIM:617054
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Cereb...	OMIM:604213
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Hypotonia, Cerebellar hypoplasia, Li...	OMIM:620270
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Postural tremor, Ataxia, Parkinsonism, Abnormal cerebellum morphology, Unstea...	ORPHA:98762
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Ataxia, Progressive neurologic deterioration, Abnormal pyramidal sign, Cognitive impairment, Dyst...	OMIM:619196
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Cerebellar atrophy, Gait ataxia	ORPHA:423296
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil...	OMIM:616269
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Axial hypotonia, Hypoplasia of the pons, Choreoathetosis, Irritability, Dystonia, Spasticity	OMIM:614249
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramid...	OMIM:607317
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, ...	OMIM:615362
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity	OMIM:611105
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Mental deterioration, Spastic tetraplegia, Depression, Bradykinesia, Tip-toe gait, Gait...	OMIM:615643
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, In...	OMIM:302500
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia	ORPHA:228169
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Akinesia, Limb apraxia,...	ORPHA:454887
Dystonia 33	Axial dystonia, Limb dystonia, Axial hypotonia, Babinski sign, Dystonia, Spasticity	OMIM:619687
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia	OMIM:615041
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Hyperphenylalaninemia, Bh4-Deficient, C	Progressive neurologic deterioration, Tremor, Hypotonia, Dysphagia, Choreoathetosis, Irritability...	OMIM:261630
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Unsteady gait, Slurred speech, Truncal ataxia, Dysmetria, Gait atax...	ORPHA:453521
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia	OMIM:300857
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensor...	OMIM:604484
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig...	ORPHA:98759
Spinocerebellar Ataxia Type 2	Abnormal substantia nigra morphology, Kinetic tremor, Postural tremor, Parkinsonism, Olivopontoce...	ORPHA:98756
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r...	OMIM:617270
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Hypoto...	OMIM:616127
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Axial hypotonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Falls, Inapprop...	OMIM:619150
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Inabili...	OMIM:619389
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, Tremor, Inability to walk, Dysplastic corpus callosum, Hypotonia, Spastic ...	ORPHA:599373
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis, Difficulty...	OMIM:613908
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental...	OMIM:615924
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Infantile axial hypotonia, Parkinsonism, Tremor, Babinski sign, Scissor gait,...	ORPHA:521406
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Spinocerebellar Ataxia, Autosomal Recessive 27	Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Spa...	OMIM:618369
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Aggressiv...	OMIM:617225
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete...	ORPHA:240085
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal...	ORPHA:363710
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Confusion, Paralysis, Paroxysmal lethargy, Babinski sign, Choreoathe...	OMIM:606777
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Parkinsonism-Dystonia 1, Infantile-Onset	Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal py...	OMIM:613135
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, D...	OMIM:618317
Striatonigral Degeneration, Infantile	Dystonia, Choreoathetosis, Dysphagia, Spasticity, Failure to thrive	OMIM:271930
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Upper limb s...	OMIM:618418
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Mental deterioration, Tetraplegia, Choreoathetosis, Dystonia, Hemi...	OMIM:614820
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gai...	OMIM:617145
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Dystonia 25	Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia	OMIM:615073
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia...	OMIM:137440
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk...	ORPHA:101150
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Babinski sign, Hypotonia, Dysmetria, Dysphagia, Choreoathetosis, Posi...	OMIM:618088
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Parkinsonism, Cerebellar calcifications, Rigidity, Babinski sign, Limb atax...	OMIM:618824
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Brunner Syndrome	Self-injurious behavior, Kinetic tremor, Impulsivity, Aggressive behavior	OMIM:300615
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria,...	OMIM:617916
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Depression, Dementia, Dystonia, Spasticit...	OMIM:615889
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Weight loss, Dysphagia...	ORPHA:216866
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Mental deterioration	OMIM:616187
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Abnormal brainstem morphology, Loss of Purkinje cells in the...	ORPHA:98755
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Stereotypical hand wringing	OMIM:619561
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi...	OMIM:607565
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Axial hypotonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Gen...	OMIM:617384
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Irritability, Myoclonus, Dystonia,...	OMIM:250620
Primary Dystonia, Dyt17 Type	Torticollis, Generalized dystonia, Parkinsonism, Craniofacial dystonia	ORPHA:370103
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Glios...	OMIM:221820
Epilepsy, Nocturnal Frontal Lobe, 4	Confusion, Dystonia	OMIM:610353
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Restless legs, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favora...	OMIM:616710
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Enlarged cerebellum	ORPHA:85165
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Hyperphenylalaninemia, Bh4-Deficient, A	Axial hypotonia, Ataxia, Small for gestational age, Parkinsonism, Progressive neurologic deterior...	OMIM:261640
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Machado-Joseph Disease	Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Par...	OMIM:109150
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Axial hypotonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dys...	OMIM:617435
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Restlessness, Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramida...	OMIM:615159
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Blepharospa...	ORPHA:240094
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Short attention span, Ataxia, Impulsivity, Tremor, Dys...	OMIM:619028
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Hypotoni...	OMIM:619054
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity	OMIM:617829
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co...	OMIM:615157
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor...	ORPHA:79263
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depress...	OMIM:619738
Hyperphenylalaninemia, Bh4-Deficient, B	Severe muscular hypotonia, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Cho...	OMIM:233910
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Hand tremor, Gait ataxia,...	ORPHA:98764
Developmental And Epileptic Encephalopathy 44	Cerebellar atrophy, Axial hypotonia, Athetosis, Irritability, Dystonia, Spasticity, Failure to th...	OMIM:617132
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Restlessness, Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Dysphagia, Opisthot...	ORPHA:13
Spinocerebellar Ataxia 42	Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia...	OMIM:612716
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Axial hypotonia, Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand...	OMIM:618760
Hypermanganesemia With Dystonia 2	Progressive neurologic deterioration, Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinso...	OMIM:617013
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to w...	OMIM:618090
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Short attention span, Dystonia, Infantile axial hypotonia, Parkinsonism, Chorea, ...	ORPHA:225147
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Neuroferritinopathy	Writer's cramp, Chorea, Subcortical dementia, Focal dystonia, Parkinsonism, Arm dystonia, Cogniti...	ORPHA:157846
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Hypotonia, Truncal ata...	OMIM:617560
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Hypo...	OMIM:617954
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,...	OMIM:616948
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Dysphagia, Up...	ORPHA:276435
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Ataxia, Athetosis, Tetraparesis, Dystonia, Mental deterioration, Failure to t...	OMIM:619310
Pontocerebellar Hypoplasia, Type 4	Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Myo...	OMIM:225753
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston...	ORPHA:300605
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypo...	OMIM:614254
Spinocerebellar Ataxia Type 11	Abnormal pyramidal sign, Dysphagia, Progressive cerebellar ataxia, Gait imbalance, Difficulty wal...	ORPHA:98767
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:604218
Developmental And Epileptic Encephalopathy 14	Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti...	OMIM:614959
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi...	OMIM:301107
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Spinocerebellar Ataxia Type 35	Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P...	ORPHA:276193
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Spastic paraplegia, Lower limb hypertonia, Gait disturbance...	OMIM:614898
Manganese Poisoning	Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bra...	ORPHA:306682
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental...	ORPHA:542310
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Confusion, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrap...	ORPHA:71277
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia	OMIM:118800
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, ...	ORPHA:329284
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking	OMIM:615048
Lhermitte-Duclos Disease	Enlarged cerebellum	ORPHA:65285
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Postural tremor, Ataxia,...	OMIM:615491
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe...	ORPHA:314603
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Frontotemporal dementia, Babinski sign, Inappropriat...	OMIM:600795
Familial Infantile Bilateral Striatal Necrosis	Dystonia, Ataxia, Frequent falls, Spastic tetraparesis, Rigidity, Babinski sign, Dysphagia, Cogwh...	ORPHA:225154
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Depre...	OMIM:312080
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Chorea, Abnormal pyramidal sign, Opisthotonus, Gait ataxia, Hypertonia, Lethargy, Confusion, Cran...	OMIM:607483
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Cerebellar calcifications, Chorea, Hand tremor, Depression, Atheto...	OMIM:615483
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia	ORPHA:284271
Spastic Paraplegia 87, Autosomal Recessive	Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait	OMIM:619966
Spastic Paraplegia 26, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, D...	OMIM:609195
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Hyperactivity, Parkinsonism, Anorexia, A...	ORPHA:3077
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Inability to walk, Hypotonia, Self-injurious behavior, Dystonia, Spasticit...	OMIM:617820
Atypical Rett Syndrome	Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Abnormal muscle ...	ORPHA:3095
Dystonia 32	Torticollis, Laryngeal dystonia, Dysphagia, Limb dystonia	OMIM:619637
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Infantile Dystonia-Parkinsonism	Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign...	ORPHA:238455
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Genera...	ORPHA:306669
3-Methylglutaconic Aciduria Type 1	Progressive cerebellar ataxia, Failure to thrive, Spastic tetraparesis, Dystonia	ORPHA:67046
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff...	OMIM:612319
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Ataxia, Dysphagia, Cognitive impairment, Dystonia	ORPHA:1171
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Spinocerebellar Ataxia 21	Cerebellar atrophy, Postural tremor, Ataxia, Akinesia, Parkinsonism, Aggressive behavior, Impulsi...	OMIM:607454
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex...	ORPHA:204
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Cognitive impairment, ...	OMIM:601042
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho...	OMIM:500003
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
3-Methylglutaconic Aciduria, Type I	Short attention span, Ataxia, Spastic tetraplegia, Athetosis, Dementia, Cognitive impairment, Dys...	OMIM:250950
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Mepan Syndrome	Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Dysphagia,...	ORPHA:508093
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Babinski sign, Spastic tetraple...	OMIM:618404
Pelizaeus-Merzbacher Disease, Classic Form	Axial hypotonia, Ataxia, Spastic tetraparesis, Dystonic gait, Hypotonia, Abnormal pyramidal sign,...	ORPHA:280219
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Involuntary movements, Chorea, Atrophy/Degeneration affecting the brainstem, ...	OMIM:617493
Foxg1 Syndrome	Inability to walk, Abnormal repetitive mannerisms, Hypotonia, Bruxism, Choreoathetosis, Hyperkine...	ORPHA:561854
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia	ORPHA:98809
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ...	OMIM:606693
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
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration	OMIM:610951
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Dysmetria, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Frontotemporal dementia, Weight loss, Bradykinesia, Dep...	OMIM:168605
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Generalized hypotonia, Dystonia	OMIM:617836
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper...	OMIM:618218
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe...	OMIM:619470
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Chorea, Hypotonia, Athetosis, Self-injurious behavior...	ORPHA:382
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Pontocerebellar Hypoplasia, Type 2C	Chorea, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Dystonia	OMIM:612390
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Hypoplasia of the pons, Unste...	ORPHA:98760
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d...	OMIM:300423
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Dysphagia, Dysdiadochokinesis, Myoclonus, ...	OMIM:614487
Hemidystonia-Hemiatrophy Syndrome	Limb dystonia, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Dystonia	ORPHA:306741
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor...	ORPHA:500180
Spinocerebellar Ataxia 50	Cerebellar atrophy, Ptosis, Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Cer...	OMIM:620158
Progressive Supranuclear Palsy	Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Depression, Blepharospasm, Bradykinesia,...	ORPHA:683
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Severe temper tantrums, Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia...	OMIM:619052
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Ataxia, Tremor, Chorea, Oculomotor apraxia, Mental deterioration, Truncal ata...	OMIM:208920
Mitochondrial Membrane Protein-Associated Neurodegeneration	Abnormal substantia nigra morphology, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Dysphag...	ORPHA:289560
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural ...	ORPHA:98805
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdi...	OMIM:610185
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria,...	OMIM:614831
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Hypotonia, Spastic tetraplegia, Hypoplasia of the brainstem, Hypertonia, ...	OMIM:619301
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor...	OMIM:300957
Leukodystrophy, Hypomyelinating, 16	Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hy...	OMIM:617964
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Microcephaly 29, Primary, Autosomal Recessive	Enlarged cerebellum	OMIM:620047
Brain Dopamine-Serotonin Vesicular Transport Disease	Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Parkinsonism,...	ORPHA:352649
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Dystonia	OMIM:104290
Leber Optic Atrophy And Dystonia	Dysphagia, Bradykinesia, Athetosis, Dementia, Dystonia, Spasticity, Upper motor neuron dysfunction	OMIM:500001
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Cerebellar hemispher...	OMIM:615095
Dystonia 17, Torsion, Autosomal Recessive	Torticollis, Focal dystonia	OMIM:612406
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Spastic tetraplegia, Irritability, Generalized hypotonia, Dystonia, Neonatal ...	OMIM:618237
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp...	OMIM:607346
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Epicanthus, Failure to thrive, Ataxia	OMIM:618951
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Axial hypotonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Sp...	OMIM:300055
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Cerebellar atrophy, Facial hypotonia, Overweight, Babinski sign, Hypotonia, Spasti...	ORPHA:280763
Parkinsonism-Dystonia 2, Infantile-Onset	Axial hypotonia, Ataxia, Oculogyric crisis, Parkinsonism, Incoordination, Tremor, Hypotonia, Dysd...	OMIM:618049
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive b...	OMIM:618917
Raynaud-Claes Syndrome	Lower limb spasticity, Aggressive behavior, Hypotonia, Depression, Progressive cerebellar ataxia,...	OMIM:300114
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical atrophy, Ce...	ORPHA:33445
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, ...	OMIM:300894
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Developmental And Epileptic Encephalopathy 69	Axial hypotonia, Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Dystonia	OMIM:618285
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Dysphagia, Dystonia, Mental deterioration, Spasticity	OMIM:304700
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sig...	OMIM:614298
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili...	ORPHA:66624
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, My...	ORPHA:139485
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Dysphagia, Clumsiness,...	OMIM:617282
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, Dystonia	OMIM:619065
Mitochondrial Complex I Deficiency, Nuclear Type 3	Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Generalized hypoto...	OMIM:618224
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a...	OMIM:610246
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral atrophy, Neuro...	OMIM:256600
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lower limb spasticity, Ataxia, Hypotonia, Truncal ataxia, Gait ataxia, Gait disturbance, Difficul...	OMIM:614458
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradyphrenia, Lower limb spasticity, Broad-based gait, Short attention span, Ataxia, Impulsivity,...	OMIM:617854
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Impaired distal vibration sens...	OMIM:300623
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
Pontocerebellar Hypoplasia, Type 2A	Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extrapyramidal dysk...	OMIM:277470
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Axial hypotonia, Ataxia, Hypotonia, Irritability, Falls, Generalized hypotonia, Dystonia, Spasticity	OMIM:619224
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme...	ORPHA:251347
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata...	ORPHA:53583
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia, Cerebellar ...	OMIM:614229
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin...	OMIM:619911
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Palatal tremor, Abnormal pyramidal sign, Hypotonia, General...	ORPHA:363717
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Self-injurious behavior, C...	OMIM:619922
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Familial Dyskinesia And Facial Myokymia	Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Paroxysmal dyskinesia,...	OMIM:606703
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Small for gestational age, Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, ...	ORPHA:70594
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Dystonia	OMIM:203740
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brai...	OMIM:616267
Oromandibular Dystonia	Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Depression, Hy...	ORPHA:93958
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Dysphagia, Dementia, Gait disturbance, Myoclonus, Abnormalit...	OMIM:607822
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Hypotonia, Spastic tetraplegia, Hypoplasia of the brains...	OMIM:619302
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome	Paroxysmal dystonia, Writer's cramp	ORPHA:163727
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia	ORPHA:330050
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Progressiv...	ORPHA:1170
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Abnormal pyramidal sign, Mental dete...	ORPHA:240071
Episodic Kinesigenic Dyskinesia 1	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:128200
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors	OMIM:619405
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ...	ORPHA:397946
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia	OMIM:612126
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Ataxia, Upper...	OMIM:205100
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia, Recurrent hand flapping	OMIM:618141
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer...	ORPHA:254881
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Spinocerebellar Ataxia 2	Dysmetria, Generalized hypotonia, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, ...	OMIM:183090
Ravine Syndrome	Ataxia, Anorexia, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, De...	ORPHA:99852
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Generalized hy...	ORPHA:527497
Spastic Ataxia 3, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Cognitive impairment, Dystoni...	OMIM:611390
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Axial hypotonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Par...	OMIM:619653
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Parkinson Disease 14, Autosomal Recessive	Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Clumsiness, Depression, Up...	OMIM:612953
Leigh Syndrome	Ataxia, Gliosis, Dystonia, Spasticity, Failure to thrive, Ptosis	OMIM:256000
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Irritability, Dystonia, Loss of ambulation	OMIM:615010
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Spastic para...	OMIM:614877
Infantile Convulsions And Choreoathetosis	Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia	ORPHA:31709
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar paralysis, Gai...	ORPHA:101006
Huntington Disease-Like 3	Psychomotor deterioration, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal p...	ORPHA:157946
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hyp...	OMIM:612936
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait	OMIM:618387
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Axial hypotonia, Ataxia, Babinski sign, Hypotonia, Dysphagia, Irritability, G...	OMIM:618226
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Ataxia, Poor coordination, Attention deficit hyperactivity disorder, Obsessive-...	OMIM:617665
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Axial hypotonia, Cachexia, Progressive neurologic deterioration, Hypotonia, Gait ataxia, Weight l...	OMIM:612075
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Titubation, Gliosis, Cerebellar hypoplasia, Failure to thrive	ORPHA:280210
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Pseudobulbar paralysis, Spasticit...	ORPHA:208441
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Episodic Ataxia, Type 9	Episodic ataxia, Cerebellar edema, Dystonia	OMIM:618924
Paroxysmal Nonkinesigenic Dyskinesia 2	Paroxysmal dystonia	OMIM:611147
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Hypotonia, Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dyston...	OMIM:618497
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Spastic tetraplegia, Dystonia	OMIM:618646
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokin...	ORPHA:289494
Leukodystrophy, Hypomyelinating, 25	Gait ataxia, Diminished ability to concentrate, Hypotonia, Dystonia	OMIM:620243
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Ataxia, Cerebellar gliosis, Cerebral atrophy, Gliosis, Dystonia, Basal...	ORPHA:79243
Blepharonasofacial Malformation Syndrome	Torsion dystonia	OMIM:110050
Progressive Myoclonic Epilepsy With Dystonia	Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dy...	ORPHA:352596
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, ...	OMIM:168600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Dyschromatosis Symmetrica Hereditaria	Torsion dystonia	ORPHA:41
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Postural tremor, Ataxia, Parkinsonism, Abnormal substantia nig...	ORPHA:98808
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia, Spasticity, Failure to thr...	OMIM:618238
Spinocerebellar Ataxia Type 6	Incoordination, Babinski sign, Unsteady gait, Dysphagia, Gait ataxia, Blepharospasm, Progressive ...	ORPHA:98758
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Dysphagia, Athetosis, Dystonia, Loss of ambu...	OMIM:617951
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Dysphagia, Spastic dysarthria, Dysdiadochokinesis, Myoclon...	ORPHA:313772
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dyston...	OMIM:612438
Developmental And Epileptic Encephalopathy 7	Hypotonia, Spastic tetraparesis, Dystonia	OMIM:613720
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G...	OMIM:604391
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity	OMIM:300983
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Hypotonia, Dysmetria, Gait at...	OMIM:117360
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Progressive spastic quadriplegia, Pro...	ORPHA:513436
Late-Infantile/Juvenile Krabbe Disease	Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati...	ORPHA:206443
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal...	ORPHA:2590
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Dystonia	OMIM:619157
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Mental deterioration, Dysphagia, Depression, Bradykinesia...	OMIM:168601
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Dysphagia, Weight loss, Bradykines...	ORPHA:411602
Torsion Dystonia With Onset In Infancy	Torsion dystonia	OMIM:602554
Huntington Disease-Like 3	Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct...	OMIM:604802
Dystonia 35, Childhood-Onset	Dystonia	OMIM:619921
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Ptosis	OMIM:612016
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ...	ORPHA:228360
Ataxia-Oculomotor Apraxia Type 4	Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment, Dystoni...	ORPHA:459033
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My...	OMIM:612736
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Spasticity, Generalized hypotonia, Dystonia	OMIM:617899
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Generalized hypotonia, Dystonia	OMIM:616763
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ataxia, Partial agenesis of the corpus callosum, Spastic paraplegia, Unsteady gait, Spastic tetra...	OMIM:245349
Leukodystrophy, Hypomyelinating, 2	Axial hypotonia, Dystonia, Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Pro...	OMIM:608804
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Axial hypotonia, Spastic tetraplegia, Dystonia	OMIM:251280
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gliosis, Cerebellar dysplasia	ORPHA:457240
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Irritability, Hyperto...	ORPHA:79097
Perry Syndrome	Parkinsonism, Tremor, Depression, Weight loss, Dementia, Abnormality of extrapyramidal motor func...	ORPHA:178509
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysm...	OMIM:610217
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Overweight, Inability to walk, Spastic paraplegia, Babinski sign, Hypertonia, Dyst...	OMIM:614066
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Mental deterioration...	OMIM:609260
Dystonia 15, Myoclonic	Myoclonus, Writer's cramp, Dystonia	OMIM:607488
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Hypotonia, Truncal ataxia, Ga...	OMIM:618877
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Impaired proprioception, Upper limb hypertonia, Limb dyston...	ORPHA:319199
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait ataxia, Trunca...	OMIM:601338
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsiness, Limb ataxia, Progressive...	ORPHA:284324
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Progressive neurologic deterioration, Babinski sign, Hypotonia, Focal dystonia, ...	ORPHA:447757
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia...	OMIM:616719
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly, Enlarged cerebellum	ORPHA:477993
Hemimegalencephaly	Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology	ORPHA:99802
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, G...	OMIM:615530
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Axial hypotonia, Ataxia, Cerebell...	ORPHA:35069
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Irritability, Hypertonia, Dy...	OMIM:619071
Spinocerebellar Ataxia, Autosomal Recessive 31	Axial hypotonia, Ataxia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Cerebellar hypoplasia, Dyst...	OMIM:619422
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Cerebellar vermis hypoplasia, Oral-pharyngeal dysphagia, Dysplastic corpus c...	ORPHA:2524
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait dist...	OMIM:210000
Mitochondrial Complex I Deficiency, Nuclear Type 17	Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dystonia	OMIM:618239
Hsd10 Disease	Short attention span, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Gait disturbance, Myo...	ORPHA:391417
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fas...	ORPHA:276198
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Gliosis, Myoclonus, Apraxia, Abnormal upper mot...	OMIM:221770
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign, Mental d...	ORPHA:52368
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Hippocampal sclerosis, Myoclonus	OMIM:615400
Tremor-Ataxia-Central Hypomyelination Syndrome	Postural tremor, Ataxia, Impaired distal proprioception, Babinski sign, Impaired vibration sensat...	ORPHA:447896
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Fatiguable weakness of proximal limb musc...	ORPHA:90117
Parkinsonian-Pyramidal Syndrome	Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Dysphag...	ORPHA:171695
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Postural tremor, Ataxia, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystoni...	OMIM:607694
Developmental And Epileptic Encephalopathy 17	Inability to walk, Athetosis, Chorea, Dystonia	OMIM:615473
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Neurodegeneration, Cereb...	OMIM:214150
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Cerebellar hypo...	OMIM:617810
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ...	OMIM:618718
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Progressive psychomotor deterioration, Motor deterio...	ORPHA:3208
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Cerebral a...	OMIM:619847
Postencephalitic Parkinsonism	Resting tremor, Abnormal substantia nigra morphology, Oculogyric crisis, Akinesia, Involuntary mo...	ORPHA:97349
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Primary Dystonia, Dyt21 Type	Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst...	ORPHA:306734
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance	ORPHA:101075
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Parkinsonism, Aggressive behavio...	OMIM:200150
Developmental And Epileptic Encephalopathy 6B	Axial hypotonia, Ataxia, Inability to walk, Chorea, Hypotonia, Choreoathetosis, Hyperkinetic move...	OMIM:619317
Spinocerebellar Ataxia, Autosomal Recessive 7	Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unsteady gait, Dysmetria, Clumsiness,...	OMIM:609270
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Hypotonia, Choreoathetosis, Myoclonus, Generalized hypotonia, ...	OMIM:312170
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Spastic tetraplegia, Gliosis, Ce...	ORPHA:3240
Christianson Syndrome	Cerebellar atrophy, Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal a...	ORPHA:85278
Developmental And Epileptic Encephalopathy 53	Hypotonia, Spastic tetraplegia, Progressive neurologic deterioration, Dystonia	OMIM:617389
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276241
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Cerebellar atrophy, Clonus, Babinski sign, Dysphagia, Progressive cerebellar ataxia, Substantia n...	OMIM:618868
Pontocerebellar Hypoplasia, Type 9	Axial hypotonia, Facial hypotonia, Clonus, Hypoplasia of the pons, Dysphagia, Irritability, Hyper...	OMIM:615809
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:602066
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Dystonia 28	Torticollis, Generalized dystonia, Abnormal pyramidal sign, Leg dystonia, Depression, Arm dystoni...	ORPHA:589618
Developmental And Epileptic Encephalopathy 27	Axial hypotonia, Chorea, Hypotonia, Myoclonus, Dystonia, Spasticity	OMIM:616139
Posttransplant Acute Limbic Encephalitis	Ataxia, Confusion, Depression, Myoclonus, Cognitive impairment, Dystonia, Memory impairment	ORPHA:163921
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
16P11.2P12.2 Microduplication Syndrome	Attention deficit hyperactivity disorder, Dystonia	ORPHA:261204
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar para...	OMIM:169500
Inherited Creutzfeldt-Jakob Disease	Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr...	ORPHA:282166
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Dys...	ORPHA:64753
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Hand tremor, Dysmetria, D...	OMIM:302800
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa...	ORPHA:101077
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Ataxia, Elongated superior cerebellar peduncle, Head titubation, Abnorm...	ORPHA:370022
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypotonia, Hypertonia, Cerebellar hypoplasia, Attention defici...	OMIM:619556
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Parkinsonism, Impaired distal proprioception, Rigidity, Babinski sign, Impair...	OMIM:258450
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Cerebellar hypoplasia, Spasticity	ORPHA:168486
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s...	ORPHA:93952
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus	OMIM:608105
Pantothenate Kinase-Associated Neurodegeneration	Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambulation, Intention tremor,...	ORPHA:157850
Mitochondrial Myopathy With Lactic Acidosis	Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity	OMIM:251950
Primary Progressive Freezing Gait	Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Dysphagia, Bradykinesia, Gait im...	ORPHA:75567
Mucolipidosis Iv	Cerebellar atrophy, Progressive neurologic deterioration, Dysplastic corpus callosum, Babinski si...	OMIM:252650
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Dysphagia, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls	OMIM:159950
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance	ORPHA:101078
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Developmental And Epileptic Encephalopathy 16	Severe muscular hypotonia, Hypotonia, Hemiparesis, Abnormality of extrapyramidal motor function, ...	OMIM:615338
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Progressive neurologic deterioration, Head titubation, Hypotonia, Irritability, Truncal...	ORPHA:88639
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impa...	OMIM:603472
Peroxisomal Acyl-Coa Oxidase Deficiency	Babinski sign, Hypotonia, Dysphagia, Irritability, Hypertonia, Dystonia, Neonatal hypotonia	OMIM:264470
Leukoencephalopathy, Cystic, Without Megalencephaly	Athetosis, Spasticity, Ataxia, Dystonia	OMIM:612951
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations	ORPHA:65684
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Torticollis, Head tremor, Dystonia, Intention tremor	OMIM:613724
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea...	ORPHA:442835
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Aggressive behavior, Unsteady gait, Ba...	ORPHA:98761
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Basal ganglia gliosi...	OMIM:604377
Leukodystrophy, Hypomyelinating, 9	Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis,...	OMIM:616140
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Unsteady gait, Obesity, Fasciculat...	ORPHA:464282
Familial Paroxysmal Ataxia	Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy	ORPHA:97
Primary Dystonia, Dyt6 Type	Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary...	ORPHA:98806
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Young-Onset Parkinson Disease	Short attention span, Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Fro...	ORPHA:2828
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Generalized dystonia, Progressive spastic paraparesis, Mental deterioration, ...	ORPHA:329308
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Lower limb spasticity, Short attention span, Cerebellar atrophy, At...	ORPHA:88644
Chronic Hiccup	Depression, Abnormal eating behavior, Weight loss	ORPHA:396
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Dysmetria, Clumsiness, ...	ORPHA:845
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ...	ORPHA:401768
Continuous Spikes And Waves During Sleep	Speech apraxia, Aggressive behavior, Clumsiness, Hyperkinetic movements, Cognitive impairment, Dy...	ORPHA:725
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Oculomotor apraxia, Hypotonia, Choreoathetosis...	OMIM:245348
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal loss in central ...	OMIM:614498
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Hypotonia, Weight loss, Generalized hypotonia, Slender build	OMIM:613662
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, A...	ORPHA:458803
Classic Galactosemia	Speech apraxia, Incoordination, Postural tremor, Ataxia, Clumsiness, Depression, Gait disturbance...	ORPHA:79239
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, Ataxia, Progressive neurologic deterioration, Inability to walk, Chorea, Hy...	ORPHA:70472
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Sulfite Oxidase Deficiency, Isolated	Axial hypotonia, Generalized dystonia, Ataxia, Choreoathetosis, Hypertonia, Agitation, Cerebellar...	OMIM:272300
Mantle Cell Lymphoma	Anorexia, Weight loss	ORPHA:52416
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Axial hypotonia, Cerebellar vermis hypoplasia, Clonus, Chorea, Babinski sign,...	OMIM:612389
Coasy Protein-Associated Neurodegeneration	Parkinsonism, Cognitive impairment, Difficulty walking, Oromandibular dystonia, Spastic parapares...	ORPHA:397725
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Sparse eyebrow, Syno...	OMIM:617193
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Severe muscular hypotonia, Tremor, Spastic paraplegia, Babinski sign, Difficult...	ORPHA:477673
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Progressive psyc...	ORPHA:363400
Allan-Herndon-Dudley Syndrome	Axial hypotonia, Ataxia, Small for gestational age, Failure to thrive in infancy, Babinski sign, ...	ORPHA:59
Kaya-Barakat-Masson Syndrome	Cerebellar atrophy, Axial hypotonia, Spastic tetraplegia, Irritability, Generalized hypotonia, Li...	OMIM:619125
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Dystonia 26, Myoclonic	Torticollis, Depression, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Parkinsonism With Polyneuropathy	Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam...	OMIM:619279
Hereditary Central Diabetes Insipidus	Lethargy, Polydipsia, Irritability, Weight loss	ORPHA:30925
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Gliosis	OMIM:613002
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hyper...	OMIM:615905
Machado-Joseph Disease Type 3	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276244
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Generalized dystonia, Dysphagia	OMIM:619025
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr...	ORPHA:309246
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Cerebellar vermis hypoplasia, Facial hypotonia, Hypotonia, Gait ataxia, Hypopla...	OMIM:617807
Pulmonary Blastoma	Weight loss	ORPHA:64741
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, Fatigable weakness of bulbar muscles, Paraplegia, Weight loss, Impaire...	ORPHA:98897
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Neurodegeneration, Gliosis, Spasticity, Neuronal loss in central nervous syst...	OMIM:616239
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Lower limb spasticity, Ataxia, Dysmetria, Lower limb hypertonia, Pseudobulbar paralysis, Difficul...	ORPHA:438114
Hereditary Methemoglobinemia	Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb d...	ORPHA:621
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, D...	OMIM:614381
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Babinski sign, Myoclonus, Cognitive impairment, Truncal ataxia, Neonatal hypoto...	OMIM:252011
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Abnormal pyramidal sign, Tetraplegia, Dystonia, Failure to thrive	OMIM:300475
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Babinski sign, Ton...	OMIM:608643
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurode...	OMIM:618321
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hypertonia, Dystonia, Lethargy, Failure to thrive, Infantile muscular hypotonia	ORPHA:26792
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Hypotonia, Spastic tetraplegia, Tetraplegia, Gait disturbance, Gen...	OMIM:250100
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Hypotonia, Dysphagia, Choreoathetosis, Dystonia, S...	OMIM:617664
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Hypotonia, Dystonia	ORPHA:139406
Developmental And Epileptic Encephalopathy 71	Gliosis	OMIM:618328
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Axial hypotonia, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor,...	OMIM:617710
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Adult Krabbe Disease	Broad-based gait, Somatic sensory dysfunction, Ataxia, Abnormal medulla oblongata morphology, Pro...	ORPHA:206448
Friedreich Ataxia	Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a...	ORPHA:95
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Ataxia, Hypotonia, Myoclonus, Dystonia, Spasticity	OMIM:620094
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination, Cognitive ...	ORPHA:36387
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Unsteady gait, Dysmetria, Generalized hyp...	OMIM:614867
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hypotonia, Tetraplegia, Choreoathetosis, Dyst...	OMIM:616034
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar...	OMIM:601104
Mitochondrial Complex I Deficiency, Nuclear Type 23	Hypotonia, Generalized hypotonia, Dystonia	OMIM:618244
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Cerebellar hypoplasia, Dystonia, Oculomoto...	OMIM:618087
Developmental And Epileptic Encephalopathy 1	Axial hypotonia, Spastic tetraparesis, Abnormal pyramidal sign, Dysphagia, Choreoathetosis, Hyper...	OMIM:308350
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Inability to walk, Chorea, Hypotonia, Bruxism, Hemiparesis, Self-injurious b...	OMIM:618004
Isaacs Syndrome	Fasciculations, Distal sensory impairment, Weight loss	ORPHA:84142
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Dystonia, Irritability, Infantile muscular hypotonia	ORPHA:457205
Metachromatic Leukodystrophy, Adult Form	Short attention span, Chorea, Babinski sign, Progressive psychomotor deterioration, Clumsiness, D...	ORPHA:309271
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Central Diabetes Insipidus	Anorexia, Depression, Weight loss, Lethargy, Polydipsia, Failure to thrive	ORPHA:178029
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Cachexia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia, Self-mutilation	ORPHA:52503
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Frontotemporal dementia, Dementia, Gait disturbance, Tetraparesis, Dystonia, Loss of ambulation	OMIM:167320
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor	ORPHA:98771
Pick Disease Of Brain	Neuronal loss in central nervous system, Gliosis	OMIM:172700
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Hypotonia, Dysmetria, Gait...	OMIM:616505
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Inability to walk, Hypotonia, Abnormality of extrapyramidal motor function, G...	OMIM:614739
Myopathy With Extrapyramidal Signs	Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Hypotonia, Clumsiness, Choreoathetosis, Abnormalit...	OMIM:615673
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,...	OMIM:606002
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Upslanted palpebral fissure, Hypertonia,...	OMIM:619092
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lower limb spasticity, Gliosis	OMIM:615119
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Aggressive behavior, Tremor, Hypotonia, Myoclonus, Dysphagia	ORPHA:97229
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Dysphagia, Choreoathetosis, Dystonia, Limb hypertonia	OMIM:618247
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Gait disturb...	ORPHA:765
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Rett Syndrome	Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Spasticity, Motor deterio...	OMIM:312750
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Dystonia, Hypotonia, Cerebellar hypoplasia, Generalized hypotonia, Truncal ataxia, Failure to thr...	OMIM:614407
Costello Syndrome	Chiari type I malformation, Enlarged cerebellum	OMIM:218040
Idiopathic Achalasia	Dysphagia, Weight loss	ORPHA:930
Baralle-Macken Syndrome	Inability to walk, Obesity, Dystonia, Neonatal hypotonia, Spasticity	OMIM:619255
Choreoacanthocytosis	Chorea, Oromandibular dystonia, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulati...	ORPHA:2388
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Gait disturbance	ORPHA:99014
Saccharopinuria	Tremor, Spastic diplegia, Gait ataxia, Distal sensory impairment, Cognitive impairment, Mental de...	ORPHA:3124
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
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Epicanthus, Tremor, Truncal titubation, Abnorma...	OMIM:618056
Congenital Arthrogryposis With Anterior Horn Cell Disease	Dystonia, Inability to walk, Difficulty walking, Generalized hypotonia, Neonatal death	OMIM:611890
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Holocarboxylase Synthetase Deficiency	Ataxia, Anorexia, Hypotonia, Weight loss, Irritability, Lethargy	ORPHA:79242
Harel-Yoon Syndrome	Cerebellar atrophy, Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity	OMIM:617183
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Hypotonia, Dystonia	OMIM:620359
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Epicanthus, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, ...	OMIM:248500
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, T...	ORPHA:98768
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Myoclonus, Atrophy/Degen...	OMIM:614946
Rasmussen Subacute Encephalitis	Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Hemiparesis, Irritability,...	ORPHA:1929
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Cerebellar vermis atrophy, ...	OMIM:617988
Charcot-Marie-Tooth Disease, Type 4K	Ataxia, Difficulty walking, Dystonia	OMIM:616684
Coffin-Siris Syndrome 12	Chiari malformation, Enlarged cerebellum	OMIM:619325
Aceruloplasminemia	Abnormal dentate nucleus morphology, Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary mov...	ORPHA:48818
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Dystonia	OMIM:610181
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Axial hypotonia, Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Sp...	OMIM:618451
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia	OMIM:614932
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Choreoathetosis, Generalized hypotonia, Dystonia, Frequent falls	OMIM:618416
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Ataxia, Hypotonia, Dystonia	OMIM:246900
Dystonia-Deafness Syndrome 1	Generalized dystonia, Small for gestational age, Oculogyric crisis, Leg dystonia, Pseudobulbar pa...	OMIM:607371
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Obsessive-compulsive trait, Gait dis...	ORPHA:544254
Leigh Syndrome	Cerebellar atrophy, Abnormal dentate nucleus morphology, Ataxia, Involuntary movements, Chorea, S...	ORPHA:506
Aicardi-Goutieres Syndrome 3	Spasticity, Hypotonia, Generalized hypotonia, Dystonia	OMIM:610329
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hypotonia, Choreoathetosis, Dystonia, Lethargy, Failure to thrive	ORPHA:79312
Tuberculosis	Weight loss	ORPHA:3389
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Frontal lob...	ORPHA:97355
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Weakness due to upper motor neuron d...	ORPHA:466722
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Myoclonus, Tetrap...	OMIM:616672
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Hypotonia, Choreoathetosis, Gait disturbance, Dys...	ORPHA:702
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Generalized hypotonia,...	ORPHA:529665
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Babinski sign, Progressive psychomotor deterioration, Clumsiness, Progressi...	ORPHA:309263
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations, Dysphagia	OMIM:313200
Glutathionuria	Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Generalized dystonia, Unsteady gait, Gait disturbance, Myoclonus, Cognitive i...	ORPHA:412217
Hengel-Maroofian-Schols Syndrome	Cerebellar atrophy, Inability to walk, Hypotonia, Tetraplegia, Gait imbalance, Dystonia, Spastici...	OMIM:619641
Episodic Ataxia, Type 2	Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy	OMIM:108500
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Dystonia, Hypotonia, Generalized hypotonia, Atrophy/Degeneration affecting the brainstem, Spasticity	OMIM:616277
Rett Syndrome	Limb apraxia, Inability to walk, Stereotypical hand wringing, Bradykinesia, Gait disturbance, Agi...	ORPHA:778
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Inability to walk, Dysplastic cor...	ORPHA:357058
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont...	OMIM:146500
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Postural tremor, Ataxia, Babinski sign, Truncal obesity, Lower limb hypertoni...	OMIM:301072
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Dystonia, Ataxia, Parkinsonism, ...	ORPHA:909
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni...	OMIM:616840
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment	ORPHA:820
Hypermanganesemia With Dystonia 1	Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm...	OMIM:613280
Trisomy X	Tremor, Hypotonia, Depression, Attention deficit hyperactivity disorder, Cognitive impairment	ORPHA:3375
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Progressive extrapyramidal movement di...	ORPHA:199351
Metachromatic Leukodystrophy, Late Infantile Form	Babinski sign, Gait ataxia, Clumsiness, Progressive gait ataxia, Tip-toe gait, Decerebrate rigidi...	ORPHA:309256
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbanc...	ORPHA:79244
Mitochondrial Complex I Deficiency, Nuclear Type 33	Axial hypotonia, Small for gestational age, Progressive neurologic deterioration, Irritability, C...	OMIM:618253
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Broad-based gait, Small for gestational age, Failure to thrive in infancy, Po...	OMIM:618891
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Dystonia, Tetraparesis, Generalized hypotonia, Dysphagia	OMIM:618230
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Depression, Gait ...	OMIM:193003
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hemiplegia/hemiparesis, Chorea, Hypotonia, Choreoathetosis, Dystonia, Lethargy	ORPHA:289916
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Dysphagia	OMIM:607734
Brain-Lung-Thyroid Syndrome	Apraxia, Short attention span, Incoordination, Ataxia, Involuntary movements, Hyperactivity, Abno...	ORPHA:209905
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,...	OMIM:616586
Bilateral Generalized Polymicrogyria	Axial hypotonia, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclo...	ORPHA:208447
Leukoencephalopathy With Vanishing White Matter 1	Spasticity, Gliosis	OMIM:603896
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia	OMIM:617106
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Supranuclear Palsy, Progressive, 2	Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Granulovacuolar degenera...	OMIM:609454
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Impaired distal proprioception, Dysmetria, Gait ataxia, Progressive gait ataxia, Ataxia, Hypoesth...	OMIM:607459
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Atrophy/De...	ORPHA:171629
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Progressive neurologic deterioration, Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of...	ORPHA:1192
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Rigidity, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxi...	ORPHA:93256
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Epicanthus, Tremor, Synophrys, Spastic diplegia, Obesity, Long eyelashes, Dystonia, Downslanted p...	ORPHA:480907
Cerebral Creatine Deficiency Syndrome 1	Speech apraxia, Broad-based gait, Axial hypotonia, Aggressive behavior, Hypotonia, Hypertonia, Ga...	OMIM:300352
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment	OMIM:607876
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Classic Phenylketonuria	Tremor, Mental deterioration, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attent...	ORPHA:79254
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Anorexia, Weight loss	ORPHA:100083
Mitochondrial Complex I Deficiency, Nuclear Type 13	Failure to thrive, Spasticity, Generalized dystonia, Irritability	OMIM:618235
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Tremor, Increased body weight, Agitation, Lethargy	ORPHA:276608
Intestinal Dysmotility Syndrome	Failure to thrive, Hypotonia, Weight loss	OMIM:620045
Hsd10 Disease, Infantile Type	Restlessness, Spastic tetraparesis, Poor coordination, Hypotonia, Spastic diplegia, Dysphagia, Ch...	ORPHA:391428
Partington Syndrome	Lower limb spasticity, Gait disturbance, Limb dystonia	ORPHA:94083
Liang-Wang Syndrome	Cerebellar atrophy, Axial hypotonia, Ataxia, Dystonia	OMIM:618729
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a...	ORPHA:646
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Short attention span, Torticollis, Cerebellar vermis hypoplasia, Inability to wal...	ORPHA:300570
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Small for gestational age, Lagophthalmos, Bilateral ptosis, Chorea, Cerebral ...	ORPHA:404454
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Inability to walk, Babinski sign, Abnormal pyramidal sign, Hypotonia, Dystoni...	OMIM:617339
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Tremor, Hypotonia, Gait ataxia, Abdominal obesity, Generalize...	OMIM:300354
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Severe muscular hypotonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, D...	ORPHA:25
Developmental And Epileptic Encephalopathy 38	Axial hypotonia, Ataxia, Irritability, Dystonia, Limb hypertonia	OMIM:617020
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Impaired vibratio...	ORPHA:447753
Gm1-Gangliosidosis, Type Iii	Slurred speech, Ataxia, Dystonia	OMIM:230650
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, ...	ORPHA:98794
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Birk-Landau-Perez Syndrome	Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Limb ataxia, Choreoathetosis, Ap...	OMIM:617595
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G...	ORPHA:206594
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ata...	OMIM:602481
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ...	ORPHA:431361
Partington Syndrome	Limb dystonia, Lower limb spasticity, Focal dystonia	OMIM:309510
Developmental And Epileptic Encephalopathy 46	Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia	OMIM:617162
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Enlarged cerebellum, Chiari type I m...	ORPHA:261537
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia	OMIM:608033
Combined Malonic And Methylmalonic Acidemia	Memory impairment, Failure to thrive, Axial hypotonia, Dystonia	ORPHA:289504
Developmental And Epileptic Encephalopathy 86	Small for gestational age, Generalized hypotonia, Dystonia	OMIM:618910
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Epicanthus, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hypertonia	OMIM:619737
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysphagia, Weight loss, Gait dist...	ORPHA:354
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Kufor-Rakeb Syndrome	Eyelid apraxia, Short attention span, Oculogyric crisis, Parkinsonism, Confusion, Rigidity, Upper...	ORPHA:306674
Ataxia-Telangiectasia	Ataxia, Tremor, Gait disturbance, Cognitive impairment, Spasticity, Failure to thrive	ORPHA:100
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Enlarged cerebellum, Hypoplastic ant...	ORPHA:261552
Fatal Familial Insomnia	Ataxia, Weight loss, Dementia, Myoclonus, Dysphagia	OMIM:600072
Alternating Hemiplegia Of Childhood	Progressive neurologic deterioration, Anorexia, Tremor, Oral-pharyngeal dysphagia, Chorea, Abnorm...	ORPHA:2131
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Axial hypotonia, Hypoplasia of the pons, Dysphagia, Myoclonus, Cerebella...	OMIM:617669
Combined Oxidative Phosphorylation Defect Type 13	Axial hypotonia, Choreoathetosis, Lower limb hypertonia, Generalized hypotonia, Limb dystonia, Fa...	ORPHA:319514
Lipoyltransferase 1 Deficiency	Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Abnormality of extrapyramid...	OMIM:616299
Primary Non-Essential Cutis Verticis Gyrata	Gliosis	ORPHA:357225
Congenital Muscular Dystrophy Due To Lmna Mutation	Gait disturbance, Hypotonia, Cachexia	ORPHA:157973
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Writer's cramp, Fatigable weakness of distal limb muscles, Impaired vibration sensation in the lo...	ORPHA:324442
Lissencephaly, X-Linked, 2	Spasticity, Gliosis, Decreased testicular size	OMIM:300215
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Hypotonia, Self-injurious behavior, Generalized hypotonia, Dystonia, Recurrent hand flapping	OMIM:617268
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Aggressive be...	ORPHA:572798
Combined Oxidative Phosphorylation Deficiency 35	Spasticity, Failure to thrive, Generalized hypotonia, Dystonia	OMIM:617873
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast...	OMIM:203700
Gaucher Disease Type 2	Spasticity, Dysphagia, Dystonia	ORPHA:77260
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Gliosis, Cerebellar hypoplasia, Abnormal shape of the palpebral fissur...	ORPHA:261652
Krabbe Disease	Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti...	OMIM:245200
Intellectual Developmental Disorder, Autosomal Dominant 43	Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Hypotonia, Dystonia, Failure to thrive	OMIM:616977
Metachromatic Leukodystrophy	Dystonia, Ataxia, Incoordination, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, P...	ORPHA:512
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Chorea, Hyp...	OMIM:615356
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Spasticity, Chorea, Generalized hypotonia, Dystonia	OMIM:613970
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Axial hypotonia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Spast...	OMIM:619909
Niemann-Pick Disease, Type C1	Ataxia, Hypotonia, Dysphagia, Gait ataxia, Dementia, Generalized hypotonia, Dystonia, Cataplexy, ...	OMIM:257220
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity	OMIM:619616
Galactose Epimerase Deficiency	Hypotonia, Weight loss	ORPHA:79238
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Enlarged cerebellum, Agenesis of cerebellar vermis, Agenesis of cor...	ORPHA:2152
Lynch Syndrome	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hypotonia, Weight loss, Depression, Irritability...	ORPHA:144
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Obesity, Choreoathetosis, Chiari type I malformation, Attention deficit hyperacti...	ORPHA:261197
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Clumsiness, Weight loss, Depression, ...	ORPHA:905
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy, Abnormal posturing, Failure to thrive, Hypotonia	OMIM:614857
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Facial hypotonia, Failure to thrive in infancy, Cachexia, Inability to walk, Appendicular hypoton...	OMIM:616801
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Hypotonia, Hypertonia, Generalized hypotonia, Dystonia	OMIM:614654
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Bruxism, Athetosis, Irritability, Generalized hypotonia, Dystonia, Neon...	OMIM:613454
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Axial hypotonia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal cord para...	ORPHA:500144
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkins...	OMIM:607060
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Ataxia, Spastic paraplegia, Hypotonia, Tetraplegia, Dystonia, Lethargy	ORPHA:254913
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Depression, Distal sensory impairment,...	OMIM:617675
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Dysphagia	OMIM:619790
Congenital Disorder Of Deglycosylation 1	Ptosis, Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic mov...	OMIM:615273
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Hypotonia, Cachexia	ORPHA:1216
Infantile Krabbe Disease	Psychomotor deterioration, Lower limb spasticity, Cachexia, Progressive neurologic deterioration,...	ORPHA:206436
Rhabdoid Tumor	Hemiplegia, Irritability, Cerebral palsy, Weight loss	ORPHA:69077
Nipah Virus Disease	Tremor, Myoclonus, Anorexia	ORPHA:99825
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Glutaric Acidemia I	Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst...	OMIM:231670
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Fasciculations, Cerebellar hypoplasia, ...	OMIM:620327
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Cimdag Syndrome	Cerebellar vermis hypoplasia, Ataxia, Chorea, Hypotonia, Pontocerebellar atrophy, Cerebellar hypo...	OMIM:619273
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,...	ORPHA:329478
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Torticollis, Cerebellar edema, Ataxia, Tremor, Rigidity, Hypotonia, Irritability, T...	OMIM:617186
Classic Hodgkin Lymphoma	Ataxia, Anorexia, Weight loss	ORPHA:391
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Cachexia, Hypotonia, Fatigable weakness, Fatigable weakness of neck muscles, Lethargy	ORPHA:42
Familial Colorectal Cancer Type X	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hypotonia, Weight loss, Depression, Irritability...	ORPHA:440437
Myoclonic-Astatic Epilepsy	Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Hypotonia, Abnormal emotio...	ORPHA:1942
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Filippi Syndrome	Cerebellar atrophy, Decreased body weight, Dystonia	OMIM:272440
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Spasticity, Dementia, Dysphagia, Dystonia	OMIM:607236
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Ataxia, Rigidity, Spastic tetraplegia, Chiari type I malformation, Long eyelashes, Ce...	OMIM:618476
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Cachexia, Babinski sign, Dystonia, Neonatal death, Spasticity	OMIM:618186
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Abnormal brainstem MRI signal intensity, Babinski sign, Spastic paraplegia, Tip-toe gait,...	ORPHA:83629
O'Sullivan-Mcleod Syndrome	Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Depression, Head tremor, Atrophy/Degen...	ORPHA:314404
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Weight loss	ORPHA:86893
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Gait disturbance, Agitation, Bruxism, Recurrent hand flapping	OMIM:617903
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ...	OMIM:300100
Combined Oxidative Phosphorylation Defect Type 39	Lower limb spasticity, Involuntary movements, Abnormal cerebellum morphology, Babinski sign, Leg ...	ORPHA:565624
Neurodevelopmental Disorder With Spasticity And Poor Growth	Axial hypotonia, Generalized dystonia, Ataxia, Clonus, Babinski sign, Opisthotonus, Limb hyperton...	OMIM:618076
Flynn-Aird Syndrome	Dementia, Ataxia, Cachexia, Impaired pain sensation	ORPHA:2047
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Hypoplasia of the pons, Dysmetria, Dysphagia, Cerebe...	OMIM:619708
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Xeroderma Pigmentosum, Complementation Group F	Tremor, Ataxia, Brain atrophy, Decreased body weight	OMIM:278760
Familial Acute Necrotizing Encephalopathy	Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Spasticity	ORPHA:88619
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Hyperkinetic moveme...	OMIM:616271
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Gliosis, Apraxia, Neuronal loss in central nervous system, Cerebral cortical atrophy	OMIM:607485
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Ataxia, Involuntary movements, Inability to walk, Chorea, Hypotonia, Bruxism,...	OMIM:617804
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Dysphagia, Weight loss	ORPHA:2198
Keratoderma Hereditarium Mutilans	Self-injurious behavior, Abnormal spinal cord morphology	ORPHA:494
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention defici...	OMIM:619680
Developmental And Epileptic Encephalopathy 29	Axial hypotonia, Chorea, Blepharospasm, Limb dystonia, Spasticity, Failure to thrive	OMIM:616339
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Gliosi...	OMIM:252160
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis	OMIM:612164
Japanese Encephalitis	Abnormal substantia nigra morphology, Weakness due to upper motor neuron dysfunction, Abnormal mi...	ORPHA:79139
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Truncal ataxia, Limb ataxia, Paraplegia, Hemi...	OMIM:105210
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Axial hypotonia, Hypotonia, Spastic tetraparesis, Dystonia	OMIM:617668
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Hypotonia, Weight loss	OMIM:143880
Combined Oxidative Phosphorylation Deficiency 12	Axial hypotonia, Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Hypotonia, Brad...	OMIM:614924
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Generalized dystonia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Dysphagi...	OMIM:620358
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Spasticity, Dystonia	OMIM:610333
Alexander Disease	Ataxia, Clonus, Tremor, Aqueductal stenosis, Chorea, Abnormal pyramidal sign, Hypotonia, Tetraple...	ORPHA:58
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Emotional lability, Irritability, Lethargy, Failure to thrive	OMIM:201100
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Involuntary movements, Depression, Attention deficit hyperactivity disorder,...	ORPHA:98784
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Coach Syndrome 1	Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Hypotonia, Gen...	OMIM:216360
Nmda Receptor Encephalitis	Short attention span, Oculogyric crisis, Involuntary movements, Confusion, Rigidity, Hypersexuali...	ORPHA:217253
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:614702
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Atrophy/Degeneration affecting the...	ORPHA:66634
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Dysesthesia, Vocal cord paralysis, Depression, Weight loss, Chiari typ...	ORPHA:221098
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Increased mitochondrial number, Dysmetria	OMIM:615578
Insulinoma	Tremor, Increased body weight, Transient global amnesia, Paresthesia, Abnormality of pain sensati...	ORPHA:97279
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia	OMIM:250850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Broad-based gait, Facial hypotonia, Severe mu...	ORPHA:438216
Leber Optic Atrophy	Postural tremor, Ataxia, Dystonia	OMIM:535000
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdia...	ORPHA:502423
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Spasticity, Ataxia, Dystonia	OMIM:617341
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Unsteady gait, Mental deterioration, Gait ataxia, Myoclonus,...	OMIM:254900
Aicardi-Goutieres Syndrome 9	Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Irrita...	OMIM:619487
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Gliosis, Myoclonic spasms	OMIM:252150
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypotonia, Gait disturbance, Oculomotor apraxia, Ag...	ORPHA:220497
Citrullinemia Type Ii	Restlessness, Decreased body mass index, Hyperactivity, Confusion, Aggressive behavior, Tremor, A...	ORPHA:247585
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Epicanthus, Corpus callosum atrophy, Upslanted palpebral fissure, Gliosis, Fa...	OMIM:261515
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Tremor, Depression, Mental deterioration, Memory impairment	ORPHA:79095
Pyruvate Carboxylase Deficiency	Ataxia, Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Hypotonia, Tip-toe gait, G...	ORPHA:3008
Developmental And Epileptic Encephalopathy 84	Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity	OMIM:618792
Lesch-Nyhan Syndrome	Hypotonia, Dysphagia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormality of extr...	OMIM:300322
Siddiqi Syndrome	Limb dystonia	OMIM:618635
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Axial hypotonia, Cachexia, Hypotonia, Spastic tetraplegia, Self-injurious behavior, Severe failur...	ORPHA:371364
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Ataxia, Small for gestational age, Hypotonia, Dysphagia, Choreoathetosis, Dys...	OMIM:615471
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Ataxia, Tetraplegia, Dysphagia, Fasciculations, Progressive spasticity, Dysto...	ORPHA:496641
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Oral-pharyngeal dysphagia, Poor coordination, Spastic tetraplegia, Spastic dipleg...	OMIM:616878
Niemann-Pick Disease, Type C2	Ataxia, Hypotonia, Dysphagia, Dementia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mann...	OMIM:607625
Beta-Ketothiolase Deficiency	Ataxia, Anorexia, Hypotonia, Weight loss, Agitation, Extrapyramidal dyskinesia, Oral aversion, Sp...	ORPHA:134
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Weight loss	OMIM:613239
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Axial hypotonia, Cerebellar vermis hypopl...	OMIM:615574
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss, Dementia, Paresthesia, Dysphagia	ORPHA:298
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebellar atrophy, Spasticity, Hypotonia, Dystonia	OMIM:619286
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Alg3-Cdg	Spastic tetraparesis, Hypoplasia of the pons, Hypotonia, Hypertonia, Dystonia, Dandy-Walker malfo...	ORPHA:79321
Serotonin Syndrome	Restlessness, Clonus, Confusion, Tremor, Rigidity, Irritability, Hypertonia, Agitation, Myoclonus...	ORPHA:43116
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Hypertonia, Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive manner...	OMIM:619475
Hyperlysinemia	Short attention span, Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetrapares...	ORPHA:2203
Kcnq2-Related Epileptic Encephalopathy	Inability to walk, Poor gross motor coordination, Hypotonia, Dystonia	ORPHA:439218
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Telecanthus, Gliosis	OMIM:231680
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spas...	OMIM:300966
Nabais Sa-De Vries Syndrome, Type 2	Failure to thrive in infancy, Chorea, Hemiparesis, Dystonia, Neonatal hypotonia	OMIM:618829
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lower limb spasticity, Large for gestational age, Upslanted palpebral fissure, Abnormal pons morp...	OMIM:300868
Mcleod Syndrome	Chorea, Depression, Compulsive behaviors, Dystonia, Impaired vibration sensation at ankles	OMIM:300842
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy...	ORPHA:217260
Polyendocrine-Polyneuropathy Syndrome	Cerebellar hypoplasia, Ataxia, Abnormal pyramidal sign, Dystonia	ORPHA:453533
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Short attention span, Axial hypotonia, Ataxia, Tremor, Inability to walk, ...	OMIM:619229
Aicardi-Goutieres Syndrome 1	Axial hypotonia, Cerebellar calcifications, Inability to walk, Abnormality of extrapyramidal moto...	OMIM:225750
Illum Syndrome	Bradycardia	OMIM:208155
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Axial hypotonia, Limb dystonia	OMIM:620269
Cockayne Syndrome	Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Cachexia, Action tremor, Dense calcifica...	ORPHA:191
Combined Oxidative Phosphorylation Deficiency 57	Small for gestational age, Hypotonia, Myoclonus, Dystonia, Neonatal death	OMIM:620167
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Hypotonia, Myoclonus, Dystonia, Neonatal death	OMIM:619167
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Restless legs, Abnormal spinal cord morphology	ORPHA:99947
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity	ORPHA:803
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Difficulty...	OMIM:610978
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Ataxia, Tremor, Hypotonia, Myoclonus, Dysphagia, Loss of ambulation, Right he...	OMIM:607426
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis, Parkinsonism	OMIM:606688
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a...	ORPHA:478029
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Ataxia, Tremor, Rigidity, Dysphagia, Cogwheel rigidity, Gait ...	ORPHA:254892
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Ataxia, Cerebral atrophy, Gliosis, Spasticity, Failure to thrive, Ptosis	OMIM:124000
Thymic Carcinoma	Fatigable weakness, Diaphragmatic paralysis, Weight loss	ORPHA:99868
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Cerebellar atrophy, Ataxia, Neurodegeneration	OMIM:615919
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia, Lethargy	OMIM:277410
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Spastic paraplegia, Failure to thrive in infancy	OMIM:619026
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto...	ORPHA:309854
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypotonia, Gait disturbance, Oculomotor apraxia, Ag...	ORPHA:220493
Gabriele-De Vries Syndrome	Telecanthus, Lacrimal duct stenosis, Small for gestational age, Tremor, Cryptorchidism, Sparse ey...	ORPHA:506358
Angelman Syndrome	Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t...	ORPHA:72
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:94080
Mulibrey Nanism	Cachexia	ORPHA:2576
Pleural Mesothelioma	Dysphagia, Weight loss	ORPHA:50251
Mitochondrial Complex I Deficiency, Nuclear Type 2	Ankle clonus, Gliosis, Dystonia	OMIM:618222
Propionic Acidemia	Axial hypotonia, Dystonia, Lethargy, Failure to thrive, Limb hypertonia	OMIM:606054
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Incoordination, Ataxia, Clonus, Involuntary movements, Babinski sign, Dysphagia, Hypertonia, Abno...	ORPHA:480864
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia...	OMIM:208900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Cerebellar vermis hypoplasia, Highly arched eyebrow, Small for gestational age,...	OMIM:220111
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Cachexia	ORPHA:1933
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Gliosis	ORPHA:26791
Helsmoortel-Van Der Aa Syndrome	Epicanthus, Cryptorchidism, Bilateral ptosis, Ectropion of lower eyelids, Obesity, Upslanted palp...	OMIM:615873
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme...	ORPHA:522077
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Somatic sensory dysfunction, Anorexia, Weight loss, Abnormal superior cerebellar ped...	ORPHA:370348
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Cerebellar hypoplasia, Dystonia	OMIM:616113
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology	ORPHA:139578
Idiopathic Camptocormia	Parkinsonism, Fatigable weakness of skeletal muscles, Frontotemporal dementia, Abnormal synaptic ...	ORPHA:1320
Congenital Disorder Of Glycosylation, Type Ii	Decreased body weight, Generalized hypotonia, Dystonia	OMIM:607906
Wolfram Syndrome 1	Tremor, Ataxia, Cerebral atrophy, Ptosis	OMIM:222300
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Myoclonus, Weight loss	OMIM:256700
Tetanus	Tremor, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharyngeal muscles	ORPHA:3299
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Large for gestational age, Tremor, Increased body weight, A...	ORPHA:263455
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation	ORPHA:424
Moynahan Syndrome	Cachexia	ORPHA:2574
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnormal medulla oblongata morpholog...	ORPHA:297
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Abnormal pyr...	OMIM:614947
Pseudo-Torch Syndrome 1	Axial hypotonia, Hypotonia, Cerebellar hypoplasia, Dystonia, Spasticity, Failure to thrive	OMIM:251290
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Hyperactivity, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, D...	ORPHA:1934
Parkinson Disease 4, Autosomal Dominant	Dementia, Parkinsonism, Weight loss	OMIM:605543
Mercury Poisoning	Tremor, Confusion, Anorexia, Dystonia	ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Involuntary movements, Babinski sign, Ankle clonus, Dystonia, Spasticity	OMIM:618397
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Inability ...	ORPHA:466768
Joubert Syndrome	Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Oculomotor apraxia, Ptosis	ORPHA:475
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, Cerebral palsy, Aggressive behavior, Inability to walk, Hypotonia, Phonic tics, Dy...	OMIM:616973
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Hypotonia, Progressive spastic quadriplegia, Abnormality ...	ORPHA:521426
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Hyperactivity, Cachexia, Aggressive behavior, Tremor, Obesity	ORPHA:85293
Whipple Disease	Ataxia, Cachexia, Anorexia, Abnormal pyramidal sign, Depression, Myoclonus, Polydipsia	ORPHA:3452
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Axial hypotonia, Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Irritability, Hypertonia	ORPHA:1578
Cln3 Disease	T-wave inversion, Bradycardia	ORPHA:228346
Unilateral Polymicrogyria	Axial hypotonia, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordin...	ORPHA:268943
Papillorenal Syndrome	Chiari type I malformation, Orbital cyst, Gliosis	OMIM:120330
Amyotrophic Dystonic Paraplegia	Spastic paraplegia, Dystonia	OMIM:105300
Triosephosphate Isomerase Deficiency	Tremor, Unsteady gait, Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:615512
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer...	OMIM:212065
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Axial hypotonia, Generalized hypotonia, Dystonia, Limb hypertonia	OMIM:616875
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Anorexia, Spastic hemiparesis, Hypotonia, Weight loss, Myoclonus, Lethargy, Spasticity	ORPHA:20
Sandifer Syndrome	Torticollis, Abnormal posturing	ORPHA:71272
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Axial hypotonia, Ataxia, Small for gestational age, Hypotonia, Spastic tetrap...	OMIM:251300
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hypotonia, Weight loss	ORPHA:1842
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Dysphagia	ORPHA:397744
Polymyositis	Gait disturbance, Hypotonia, Anorexia, Weight loss	ORPHA:732
Wieacker-Wolff Syndrome	Hypotonia, Generalized hypotonia, Dystonia, Oculomotor apraxia, Spasticity, Apraxia	OMIM:314580
Gabriele-De Vries Syndrome	Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Attention deficit hyperactivity...	OMIM:617557
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Limb dystonia, Inability to walk, Self-injurious behavior, Infantile muscular hypotonia, Neonatal...	ORPHA:457351
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration	OMIM:620210
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Abnormality of extrapyramidal moto...	OMIM:612199
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Bradycardia	OMIM:609286
Giant Cell Arteritis	Ataxia, Anorexia, Depression, Weight loss, Paresthesia	ORPHA:397
Developmental Malformations-Deafness-Dystonia Syndrome	Mental deterioration, Generalized dystonia, Dysphagia	ORPHA:79107
Celiac Disease, Susceptibility To, 1	Depression, Failure to thrive, Ataxia, Weight loss	OMIM:212750
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short attention span, Aggressive behavior, Unsteady gait, Choreoathetosis, Hypertonia, Hyperkinet...	ORPHA:17
Alobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal bra...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal bra...	ORPHA:93926
Lobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal bra...	ORPHA:93924
Semilobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal bra...	ORPHA:220386
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Axial hypotonia, Hypertonia, Hyperkinetic movements, Tetraparesis, Dystonia, ...	OMIM:619124
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor, Weight loss	ORPHA:99819
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Tetr...	OMIM:615846
Immunodeficiency 27A	Anorexia, Weight loss	OMIM:209950
Follicular Lymphoma	Weight loss	ORPHA:545
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Small for gestational age, Tremor, Hypotonia, Generalized hypotonia, Neonatal death, Fail...	OMIM:614052
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Dysphagia, Weight loss	ORPHA:142
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Cachexia	ORPHA:2774
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ataxia, Failure to thrive in infancy, Small for gestational age, Upslanted palpebral fissure, Hyp...	ORPHA:268261
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Takayasu Arteritis	Anorexia, Weight loss	ORPHA:3287
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cerebellar vermis hypoplasia, Small for gestational age, Hypotonia, Spastic tetraplegia, Hyperton...	OMIM:620024
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Chorea, Dysphagia, Gait ataxia, Hypertonia, Dystonia, Spasticity, Failure to thrive, Infa...	ORPHA:255210
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Cutis Laxa, Autosomal Recessive, Type Iid	Entropion, Bilateral cryptorchidism, Gliosis, Blepharophimosis, Failure to thrive, Downslanted pa...	OMIM:617403
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Axial hypotonia, Dystonia	OMIM:617762
Mcdonough Syndrome	Cachexia	ORPHA:2471
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Benign Recurrent Intrahepatic Cholestasis	Anorexia, Weight loss	ORPHA:65682
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Tremor, Hypotonia, Generalized hypotonia, Dystonia, Neonatal hypotonia, Cognitive impairment	OMIM:610505
Riddle Syndrome	Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination, Emotional lability	ORPHA:420741
Vici Syndrome	Cerebellar vermis hypoplasia, Hypotonia, Dysphagia, Abnormal posturing, Failure to thrive, Agenes...	OMIM:242840
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Spastic tetraparesis, Dystonia	ORPHA:404451
Cerebral Visual Impairment	Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap...	ORPHA:447788
Eosinophilic Fasciitis	Paresthesia, Weight loss	ORPHA:3165
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Tremor, Hypotonia, Spastic diplegia, Tetraparesis, Generalized hypotonia, Failure to thrive	OMIM:613179
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Ataxia, Confusion, Cachexia	ORPHA:220295
Wilson Disease	Limb dystonia, Poor motor coordination, Tremor, Rigidity, Hypoesthesia, Hand tremor, Dysphagia, F...	OMIM:277900
Pfapa Syndrome	Weight loss	ORPHA:42642
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Lower limb spasticity, Axial hypotonia, Dystonia, Ataxia, Cerebral palsy, Impulsivity, Hypotonia,...	OMIM:619950
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Leishmaniasis	Anorexia, Weight loss	ORPHA:507
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Hypotonia, Dysphagia, Hypertonia, Generalized hypotonia, Dystonia, Neonatal death...	OMIM:617248
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis, Weight loss	OMIM:188580
Oculopharyngodistal Myopathy 1	Ataxia, Tremor, Weight loss, Difficulty walking, Dysphagia	OMIM:164310
African Trypanosomiasis	Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa...	ORPHA:3385
Fucosidosis	Mental deterioration, Hypotonia, Spastic tetraplegia, Dystonia, Hemiplegia, Failure to thrive, Sp...	OMIM:230000
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypotonia, Dystonia	OMIM:614105
Dpagt1-Cdg	Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Abnormal cerebellum morphology,...	ORPHA:86309
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Spasticity, Generalized hypotonia, Dystonia	OMIM:616811
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Chediak-Higashi Syndrome	Tremor, Ataxia, Neurodegeneration	OMIM:214500
Slc39A8-Cdg	Cerebellar atrophy, Severe muscular hypotonia, Failure to thrive in infancy, Inability to walk, D...	ORPHA:468699
Focal Myositis	Weight loss	ORPHA:48918
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Cerebellar vermis hypoplasia, Ataxia, Inability to walk, Hypotonia, Dystonia, Failure to thrive	OMIM:620083
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Congenital Tufting Enteropathy	Irritability, Failure to thrive, Weight loss	ORPHA:92050
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Pain insensitivity, Ataxia, Hypotonia, Distal sensory impairment, Painless frac...	OMIM:256810
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Dementia, Dysphagia, Slender build	OMIM:603041
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Hemiplegia/hemiparesis, Abno...	ORPHA:51
Lipoid Proteinosis	Dysphagia, Dystonia	ORPHA:530
Eosinophilic Granulomatosis With Polyangiitis	Hemiplegia/hemiparesis, Gait disturbance, Dysphagia, Weight loss	ORPHA:183
Renpenning Syndrome	Cachexia	ORPHA:3242
Ring Chromosome 10 Syndrome	Hypotonia, Cachexia	ORPHA:1438
Behçet Disease	Ataxia, Confusion, Anorexia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Irritability, Gai...	ORPHA:117
Cadds	Cerebellar atrophy, Dystonia	ORPHA:369942
Tetrasomy 12P	Hypotonia, Cachexia	ORPHA:884
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:276621
Cryptogenic Organizing Pneumonia	Anorexia, Weight loss	ORPHA:1302
Cronkhite-Canada Syndrome	Cachexia, Anorexia	ORPHA:2930
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Autosomal Dominant Hypocalcemia	Writer's cramp, Depression, Fatigable weakness, Paresthesia, Emotional lability, Cortical myoclonus	ORPHA:428
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Acrodermatitis Enteropathica	Emotional lability, Failure to thrive, Anorexia, Weight loss	ORPHA:37
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Erdheim-Chester Disease	Abnormal cerebellum morphology, Polydipsia, Ataxia, Weight loss	ORPHA:35687
Filippi Syndrome	Spasticity, Hypotonia, Paraplegia, Limb dystonia	ORPHA:3255
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Pain insensitivity, Cerebellar vermis hypoplasia, Aggressive behav...	OMIM:620330
Secondary Short Bowel Syndrome	Failure to thrive, Polyphagia, Weight loss	ORPHA:95427
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Blepharonasofacial Malformation Syndrome	Torsion dystonia	ORPHA:1252
Kaposi Sarcoma	Weight loss	ORPHA:33276
Monosomy 18P	Generalized dystonia, Hypotonia	ORPHA:1598
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Axial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysplastic cor...	OMIM:300967
Osteosarcoma	Weight loss	ORPHA:668
Eosinophilic Gastroenteritis	Dysphagia, Weight loss	ORPHA:2070
Adrenocortical Carcinoma	Irritability, Increased body weight, Weight loss	ORPHA:1501
Chromosome 18P Deletion Syndrome	Small for gestational age, Hypotonia, Dystonia	OMIM:146390
Chronic Beryllium Disease	Weight loss	ORPHA:133
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Aggressive Systemic Mastocytosis	Anorexia, Weight loss	ORPHA:98850
Ménétrier Disease	Anorexia, Weight loss	ORPHA:2494
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Hypotonia, Weight loss, Apraxia, Failure to thrive	ORPHA:99885
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia	OMIM:613327
Pseudo-Torch Syndrome 2	Bradycardia, Cerebral hemorrhage	OMIM:617397
8P23.1 Microdeletion Syndrome	Obesity, Attention deficit hyperactivity disorder, Weight loss	ORPHA:251071
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Cap Polyposis	Weight loss	ORPHA:160148
Acute Monoblastic/Monocytic Leukemia	Anorexia, Weight loss	ORPHA:514
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Paresthesia, Cachexia, Anorexia	OMIM:175500
Bullous Pemphigoid	Weight loss	ORPHA:703
Medullary Thyroid Carcinoma	Dysphagia, Weight loss	ORPHA:1332
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Necrotizing Enterocolitis	Shock, Bradycardia, Hypotension	ORPHA:391673
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Abnormality of extrapyramidal motor function, Self-mutilation, Dystonia	ORPHA:79233
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Polyarteritis Nodosa	Weight loss	ORPHA:767
Familial Glucocorticoid Deficiency	Anorexia, Failure to thrive, Tetraplegia, Weight loss	ORPHA:361
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Acute Promyelocytic Leukemia	Addictive alcohol use, Anorexia, Weight loss	ORPHA:520
Arthrogryposis Multiplex Congenita 5	Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia	OMIM:618947
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Abnormality of extrapyramidal motor function, Decerebrate rigidity,...	ORPHA:79255
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Late-Onset Isolated Acth Deficiency	Lethargy, Failure to thrive, Anorexia, Weight loss	ORPHA:199299
X-Linked Cerebral Adrenoleukodystrophy	Hyperactivity, Myelopathy, Abnormal spinal cord morphology, Dysphagia	ORPHA:139396
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Axial hypotonia, Tetraplegia, Irritability, Myoclonus, Dystonia, Failure to thrive	OMIM:618278
Symptomatic Form Of Hfe-Related Hemochromatosis	Lethargy, Weight loss	ORPHA:465508
Legius Syndrome	Short attention span, Hyperactivity, Dystonia, Hypotonia, Chiari type I malformation, Attention d...	ORPHA:137605
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:29072
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Holoprosencephaly	Failure to thrive in infancy, Chorea, Hypotonia, Cognitive impairment, Dystonia, Aplasia/Hypoplas...	ORPHA:2162
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Ptosis	OMIM:309900
Mucopolysaccharidosis, Type Vii	Epicanthus, Neurodegeneration, Thick eyebrow	OMIM:253220
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal hypotonia, Dystonia	ORPHA:457193
Simple Cryoglobulinemia	Paresthesia, Spontaneous pain sensation, Progressive neurologic deterioration, Weight loss	ORPHA:91139
Neuroleptic Malignant Syndrome	Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Agitation, Dysphagia, Delirium	ORPHA:94093
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Yao Syndrome	Weight loss	OMIM:617321
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Mucolipidosis Type Ii	Axial hypotonia, Inability to walk, Weight loss, Appendicular hypotonia, Cognitive impairment	ORPHA:576
Primary Myelofibrosis	Cachexia, Anorexia	ORPHA:824
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Imerslund-Gräsbeck Syndrome	Failure to thrive, Hypotonia, Weight loss	ORPHA:35858
Loeffler Endocarditis	Weight loss	ORPHA:75566
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Myelitis, Aggressive behavior	ORPHA:83597
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Silver-Russell Syndrome	Cachexia, Failure to thrive in infancy, Obesity, Generalized neonatal hypotonia	ORPHA:813
Neuroendocrine Tumor Of The Colon	Anorexia, Weight loss	ORPHA:100080
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Epicanthus, Glioma, Upslanted palpebral fissure, Neurodegeneration	OMIM:251260
Schwartz-Jampel Syndrome	Cachexia, Blepharospasm, Irritability, Hypertonia, Gait disturbance, Attention deficit hyperactiv...	ORPHA:800
Hurler Syndrome	Bilateral ptosis, Neurodegeneration	OMIM:607014
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Hermansky-Pudlak Syndrome 10	Axial hypotonia, Generalized hypotonia, Dystonia	OMIM:617050
Alveolar Echinococcosis	Hemiparesis, Ataxia, Weight loss	ORPHA:284
Nephroblastoma	Weight loss	ORPHA:654
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Appendicular hypotonia, H...	ORPHA:2072
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom...	ORPHA:892
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Trisomy 18	Cachexia, Hypotonia, Hypertonia, Chiari malformation, Cognitive impairment	ORPHA:3380
Orofaciodigital Syndrome Type 1	Ataxia, Tremor, Dystonia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
Felty Syndrome	Weight loss	ORPHA:47612
Aredyld Syndrome	Cachexia	ORPHA:1133
Bronchial Neuroendocrine Tumor	Anorexia, Weight loss	ORPHA:97287
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Poems Syndrome	Paresthesia, Hyperesthesia, Weight loss	ORPHA:2905
Pemphigus Vulgaris	Weight loss	ORPHA:704
Short Syndrome	Weight loss	ORPHA:3163
Neuroendocrine Tumor Of The Rectum	Anorexia, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Weight loss	ORPHA:100082
Rheumatoid Arthritis	Weight loss	OMIM:180300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Acute Adrenal Insufficiency	Salt craving, Anorexia, Hypotonia, Weight loss, Failure to thrive	ORPHA:95409
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Fryns-Smeets-Thiry Syndrome	Hypotonia, Cachexia	ORPHA:2058
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Wolman Disease	Cachexia	ORPHA:75233
Beta-Ureidopropionase Deficiency	Neonatal hypotonia, Hypotonia, Dystonia	OMIM:613161
Refractory Celiac Disease	Weight loss	ORPHA:398063
Sepsis In Premature Infants	Tachycardia, Bradycardia, Hypotension	ORPHA:90051
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology	ORPHA:88628
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Weight loss	ORPHA:100085
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Obesi...	ORPHA:353281
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Pneumocystosis	Weight loss	ORPHA:723
Lujo Hemorrhagic Fever	Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension	ORPHA:319213
Diets-Jongmans Syndrome	Cryptorchidism, Gliosis	OMIM:618846
Carney-Stratakis Syndrome	Dysphagia, Weight loss	ORPHA:97286
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi...	ORPHA:99827
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Brucellosis	Small for gestational age, Anorexia, Chorea, Depression, Weight loss, Failure to thrive	ORPHA:1304
Arboleda-Tham Syndrome	Axial hypotonia, Hypotonia, Dysphagia, Lower limb hypertonia, Gait imbalance, Generalized hypoton...	OMIM:616268
Lysosomal Acid Lipase Deficiency	Psychomotor deterioration, Cachexia, Weight loss, Cognitive impairment, Failure to thrive	ORPHA:275761
Juvenile Dermatomyositis	Hypotonia, Dysphagia, Weight loss	ORPHA:93672
Al Amyloidosis	Dysphagia, Weight loss	ORPHA:85443
Congenital Fiber-Type Disproportion Myopathy	Fatigable weakness of bulbar muscles, Hypotonia, Weight loss, Dysphagia, Failure to thrive	ORPHA:2020
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Malignant Atrophic Papulosis	Pain insensitivity, Weight loss	ORPHA:679
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Dysphagia, Weight loss	ORPHA:1018
Mogs-Cdg	Dystonia, Infantile muscular hypotonia	ORPHA:79330
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Adrenomyeloneuropathy	Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology	ORPHA:139399
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Camurati-Engelmann Disease	Waddling gait, Ataxia, Cachexia, Anorexia, Slender build	ORPHA:1328
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss	OMIM:619377
Xfe Progeroid Syndrome	Poor coordination, Failure to thrive, Cachexia	OMIM:610965
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Norrie Disease	Clonus, Cachexia, Hypotonia, Irritability, Self-injurious behavior, Hypertonia, Attention deficit...	ORPHA:649
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Cystinosis, Nephropathic	Failure to thrive in infancy, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, We...	OMIM:219800
Thymoma	Weight loss	ORPHA:99867
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Cystic Echinococcosis	Weight loss	ORPHA:400
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Familial Thrombocytosis	Paresthesia, Weight loss	ORPHA:71493
Proximal Spinal Muscular Atrophy	Bradycardia	ORPHA:70
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
Woodhouse-Sakati Syndrome	Choreoathetosis, Mental deterioration, Dystonia	ORPHA:3464
Toxic Epidermal Necrolysis	Polydipsia, Dysphagia, Weight loss	ORPHA:537
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Broad-based gait, Involuntary movements, Inability to walk, Stereot...	ORPHA:438213
Neuroendocrine Tumor Of Stomach	Anorexia, Weight loss	ORPHA:100075
Gallbladder Neuroendocrine Tumor	Anorexia, Weight loss	ORPHA:100086
Q Fever	Anorexia, Weight loss	ORPHA:781
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Caroli Disease	Anorexia, Weight loss	ORPHA:53035
Woodhouse-Sakati Syndrome	Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia	OMIM:241080
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Weight loss	ORPHA:49041
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Obesi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Obesi...	ORPHA:353277
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Seckel Syndrome	Cognitive impairment, Cachexia	ORPHA:808
Multiple Endocrine Neoplasia Type 1	Short attention span, Confusion, Anorexia, Depression, Weight loss, Lethargy	ORPHA:652
Hermansky-Pudlak Syndrome	Anorexia, Weight loss	ORPHA:79430
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Kikuchi-Fujimoto Disease	Ataxia, Anorexia, Weight loss	ORPHA:50918
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Stevens-Johnson Syndrome	Dysphagia, Weight loss	ORPHA:36426
Familial Pancreatic Carcinoma	Anorexia, Weight loss	ORPHA:1333
Polycythemia Vera	Weight loss	ORPHA:729
Klatskin Tumor	Weight loss	ORPHA:99978
Glucagonoma	Depression, Anorexia, Weight loss	ORPHA:97280
Addison Disease	Failure to thrive, Salt craving, Anorexia, Weight loss	ORPHA:85138
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Bannayan-Riley-Ruvalcaba Syndrome	Hypotonia, Cachexia	ORPHA:109
Primary Sclerosing Cholangitis	Depression, Weight loss	ORPHA:171
Reactive Arthritis	Cognitive impairment, Weight loss	ORPHA:29207
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Fatiguable weakness of proximal limb muscles, Increased body weight, Depression, Weight...	ORPHA:99889
Microsporidiosis	Anorexia, Cachexia, Weight loss	ORPHA:2552
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Cerebellar atrophy, Babinski sign, Hemiparesis, Tetraparesis, Dystonia, Hemiplegia...	OMIM:175780
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia	ORPHA:90674
Multiple Myeloma	Paresthesia, Weight loss	ORPHA:29073
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc...	ORPHA:99826
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Nijmegen Breakage Syndrome	Mental deterioration, Attention deficit hyperactivity disorder, Cachexia	ORPHA:647
Parathyroid Carcinoma	Polydipsia, Dysphagia, Weight loss	ORPHA:143
Superficial Siderosis	Atrophy of the spinal cord, Abnormal spinal cord morphology	ORPHA:247245
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Amoebiasis Due To Free-Living Amoebae	Restlessness, Abnormal spinal cord morphology	ORPHA:68
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Anorexia	ORPHA:1969
Ppoma	Anorexia, Weight loss	ORPHA:97278
Primrose Syndrome	Epicanthus, Ataxia, Synophrys, Truncal obesity, Neurodegeneration, Downslanted palpebral fissures...	OMIM:259050
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Castleman Disease	Weight loss	ORPHA:160
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Somatostatinoma	Anorexia, Weight loss	ORPHA:97283
Grfoma	Anorexia, Weight loss	ORPHA:97261
Pulmonary Alveolar Microlithiasis	Fatigable weakness, Weight loss	ORPHA:60025
Marfan Syndrome	Attention deficit hyperactivity disorder, Slender build, Hypotonia, Cachexia	ORPHA:558
Granulomatosis With Polyangiitis	Hemiplegia, Weight loss	ORPHA:900
Vipoma	Anorexia, Weight loss	ORPHA:97282
Bohring-Opitz Syndrome	Bradycardia	ORPHA:97297
Postinfectious Vasculitis	Anorexia, Weight loss	ORPHA:48435
Immunodeficiency 31C	Weight loss	OMIM:614162
Fanconi Anemia	Weight loss	ORPHA:84
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Rat-Bite Fever	Weight loss	ORPHA:31205
Dermatomyositis	Hypotonia, Weight loss	ORPHA:221
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Shuffling gait, Weight loss	ORPHA:740
Pyomyositis	Weight loss	ORPHA:764
Pancreatoblastoma	Weight loss	ORPHA:677
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Juvenile Polyposis Of Infancy	Cachexia, Generalized hypotonia	ORPHA:79076
Mosaic Trisomy 20	Cryptorchidism, Abnormal spinal cord morphology	ORPHA:1724
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Nocardiosis	Anorexia, Weight loss	ORPHA:31204
Tropical Pancreatitis	Weight loss	ORPHA:103918
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia	OMIM:614437
Malt Lymphoma	Weight loss	ORPHA:52417
Sarcoidosis, Susceptibility To, 1	Anorexia, Weight loss	OMIM:181000
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Bradycardia	ORPHA:226307
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Tetrasomy 9P	Hyperactivity, Cryptorchidism, Abnormal spinal cord morphology, Oligozoospermia, Inappropriate be...	ORPHA:3310
Autosomal Recessive Cutis Laxa Type 1	Dystonia	ORPHA:90349
Stickler Syndrome	Hemiplegia/hemiparesis, Slender build, Hypotonia, Cachexia	ORPHA:828
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Limb Body Wall Complex	Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida	ORPHA:2369
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Weight loss	OMIM:619381
Chronic Graft Versus Host Disease	Dysphagia, Anorexia, Weight loss	ORPHA:99921
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Weight loss	ORPHA:90794
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss	ORPHA:79078
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Weight loss	ORPHA:91500
Primary Sjögren Syndrome	Abnormal spinal cord morphology	ORPHA:289390
Sarcoidosis	Weight loss	ORPHA:797
Proteus Syndrome	Cachexia	ORPHA:744
Goodpasture Syndrome	Weight loss	OMIM:233450
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565

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 Tor1a

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 Tor1a.

No publications found that use IMPC mice or data for Tor1a.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Tor1a^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tor1a^em1(IMPC)H	Exon Deletion	Mice
Tor1a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tor1a^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Tor1a MGI:1353568

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E18.5

MicroCT E14.5-E15.5

X-ray

X-ray

Human diseases caused by Tor1a mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data