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Gene: Aldh5a1 MGI:2441982

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

aldhehyde dehydrogenase family 5, subfamily A1

Synonyms:

OTTMUSG00000000613, D630032B01Rik, 6330403E24Rik, SSADH

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Aldh5a1 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 Aldh5a1 (2 diseases)
Human diseases predicted to be associated with Aldh5a1 (803 diseases)

The table below shows human diseases associated to Aldh5a1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Succinic Semialdehyde Dehydrogenase Deficiency		Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, E...	OMIM:271980
Succinic Semialdehyde Dehydrogenase Deficiency		Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure	ORPHA:22

The table below shows human diseases predicted to be associated to Aldh5a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Generalized non-motor (absence) seizure, Typical absence seizure, EEG with spike-wave complexes, ...	OMIM:607682
Continuous Spikes And Waves During Sleep	Typical absence seizure, Hyperkinetic movements, EEG with centrotemporal focal spike waves, Focal...	ORPHA:725
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Hippocampal sclerosis, Interictal epileptiform activity, Tremor, Bilateral tonic-clonic seizure, ...	OMIM:615400
Benign Familial Infantile Epilepsy	Generalized non-motor (absence) seizure, Generalized clonic seizure, Hypertonia, Focal-onset seiz...	ORPHA:306
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera...	OMIM:617831
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with spike-wave complexes, EEG with polyspike wave complexes, Chorea, Truncal ataxia, Tremor,...	OMIM:618587
Epilepsy With Eyelid Myoclonia	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl...	ORPHA:139431
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, E...	OMIM:271980
Epilepsy, Progressive Myoclonic, 6	Generalized non-motor (absence) seizure, Difficulty walking, EEG with spike-wave complexes, Myocl...	OMIM:614018
Myoclonic Epilepsy Of Unverricht And Lundborg	Generalized non-motor (absence) seizure, EEG with spike-wave complexes, EEG with polyspike wave c...	OMIM:254800
Carnosinase Deficiency	Generalized myoclonic seizure, EEG abnormality, Carnosinuria	ORPHA:1361
Epilepsy, Myoclonic Juvenile	Generalized non-motor (absence) seizure, EEG with generalized polyspikes, Bilateral tonic-clonic ...	OMIM:254770
Perioral Myoclonia With Absences	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl...	ORPHA:139426
Diaminopentanuria	Spasticity, Seizure, Ataxia, Hyperlysinuria, Cystinuria	OMIM:222350
Episodic Ataxia, Type 5	Typical absence seizure, EEG with spike-wave complexes, Truncal ataxia, Episodic ataxia, Bilatera...	OMIM:613855
Epilepsy, Familial Adult Myoclonic, 4	Enhancement of the C-reflex, EEG with polyspike wave complexes, Seizure, Tremor, Bilateral tonic-...	OMIM:615127
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Focal-onset seizure, Enhancement of the C-reflex, Tremor, Bilateral tonic-clo...	OMIM:613608
Landau-Kleffner Syndrome	Focal motor seizure, Gait ataxia, Atypical absence seizure, Generalized non-motor (absence) seizu...	ORPHA:98818
Hyperprolinemia, Type I	Prolinuria, Hyperglycinuria, Seizure, Status epilepticus, Ataxia, Hydroxyprolinuria, EEG abnormality	OMIM:239500
Saccharopinuria	Histidinuria, Elevated urinary saccharopine level, Saccharopinuria, Hyperlysinuria, EEG abnormali...	OMIM:268700
Dravet Syndrome	Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur...	OMIM:607208
Developmental And Epileptic Encephalopathy 94	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with generalized poly...	OMIM:615369
Developmental And Epileptic Encephalopathy 56	Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Broad-based gait, Foc...	OMIM:617665
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, EEG with polyspike wave complexes, Intention tremor, Ataxia, Morning myoclonic jerks...	ORPHA:308
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure wi...	OMIM:609446
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Difficulty walking, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic se...	OMIM:616346
Epilepsy, Progressive Myoclonic 7	Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus, EEG with generalize...	OMIM:616187
Hyperprolinemia, Type Ii	Prolinuria, Hyperglycinuria, Seizure, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarbox...	OMIM:239510
Generalized Epilepsy With Febrile Seizures-Plus	Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset...	ORPHA:36387
Developmental And Epileptic Encephalopathy 6B	Generalized non-motor (absence) seizure, Epileptic spasm, Hyperkinetic movements, Focal-onset sei...	OMIM:619317
Myoclonic Epilepsy Of Infancy	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with irregular genera...	ORPHA:86909
Juvenile Myoclonic Epilepsy	Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Photosensitive tonic-...	ORPHA:307
Developmental And Epileptic Encephalopathy 54	Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,...	OMIM:617391
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur...	OMIM:618357
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Typical absence seizure, Hypsarrhythmia, Incoordination, Seizure, Bilateral toni...	OMIM:616409
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax...	ORPHA:95434
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria, Incoordination, Seizure, Gait disturbance, Paresthesia	OMIM:236250
Lennox-Gastaut Syndrome	Generalized myoclonic seizure, Focal-onset seizure, Generalized tonic seizure, Falls, Bilateral t...	ORPHA:2382
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis...	OMIM:618141
Infantile Spasms Syndrome	Hypsarrhythmia, Infantile spasms, Myoclonus	ORPHA:3451
Developmental And Epileptic Encephalopathy 9	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:300088
Myoclonic-Atonic Epilepsy	Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz...	OMIM:616421
Developmental Delay With Or Without Epilepsy	Spastic gait, Generalized non-motor (absence) seizure, Focal-onset seizure, EEG with polyspike wa...	OMIM:620540
Threoninemia	Seizure, Hyperthreoninuria	OMIM:273770
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus	OMIM:208700
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Generalized-onset sei...	ORPHA:1941
Epilepsy, Idiopathic Generalized, Susceptibility To, 16	Paroxysmal dyskinesia, Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure, Mu...	OMIM:618596
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Myoclonus, EEG abnormality, Hand tremor	ORPHA:86814
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ...	OMIM:612736
Hartnup Disorder	Hypertonia, Seizure, Episodic ataxia, Generalized tonic seizure, Elevated urinary indoleacetic ac...	OMIM:234500
Hydroxylysinuria	Hyperlysinuria, Generalized myoclonic seizure	OMIM:236900
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c...	OMIM:620465
Developmental And Epileptic Encephalopathy 43	Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myocl...	OMIM:617113
Developmental And Epileptic Encephalopathy 74	Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica...	OMIM:618396
Carnosinemia	Generalized myoclonic seizure, Carnosinuria	OMIM:212200
Developmental And Epileptic Encephalopathy 26	Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ...	OMIM:616056
Epilepsy, Progressive Myoclonic, 8	Limb ataxia, Falls, Truncal ataxia, Gait disturbance, Action myoclonus, Bilateral tonic-clonic se...	OMIM:616230
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Generalized myoclonic seizure, Difficulty walking, Myoclonic status epilepticus...	ORPHA:2590
Ceroid Lipofuscinosis, Neuronal, 8	Seizure, Loss of ambulation, Ataxia, Myoclonus, EEG abnormality	OMIM:600143
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607631
Epilepsy, Idiopathic Generalized	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl...	OMIM:600669
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Generalized myoclonic seizure, Aminoaciduria	ORPHA:79156
Hyperprolinemia Type 1	Seizure, Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Dravet Syndrome	Epilepsia partialis continua, Focal-onset seizure, Incoordination, Action tremor, Atypical absenc...	ORPHA:33069
Argininemia	Seizure, Hemiplegia/hemiparesis, EEG abnormality, Progressive spastic quadriplegia, Diaminoaciduria	ORPHA:90
Hemimegalencephaly	Epileptic spasm, EEG with polyspike wave complexes, EEG with focal spikes, Gliosis, Focal motor s...	ORPHA:99802
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Chorea, Generalized-onset seizure...	ORPHA:79137
Lissencephaly 10	Generalized non-motor (absence) seizure, Torticollis, Generalized-onset seizure, Bilateral tonic-...	OMIM:618873
Myoclonus, Familial, 1	Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus	OMIM:614937
Glycosylphosphatidylinositol Biosynthesis Defect 15	Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, Tremor, Bilatera...	OMIM:617810
Paroxysmal Exertion-Induced Dyskinesia	Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Lower limb spasticity, Chorea, Se...	ORPHA:98811
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Developmental And Epileptic Encephalopathy 19	Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Febrile seizure (within t...	OMIM:615744
Epilepsy, Progressive Myoclonic, 11	Seizure, Intention tremor, Rigidity, Ataxia, Giant somatosensory evoked potentials, Myoclonus	OMIM:618876
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure...	OMIM:612899
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Myoclonic ...	OMIM:162350
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, EEG with sp...	OMIM:614558
Developmental And Epileptic Encephalopathy 109	Typical absence seizure, Spasticity, Bilateral tonic-clonic seizure, Gait ataxia, Tonic seizure, ...	OMIM:620145
Epilepsy, Familial Temporal Lobe, 1	Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur...	OMIM:600512
Developmental And Epileptic Encephalopathy 24	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb...	OMIM:615871
Developmental And Epileptic Encephalopathy 103	Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa...	OMIM:619913
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Methylmalonic aciduria, Homocystinuria, Hypsarrhythmia, Chorea, Seizure, Athetosis, Infantile spa...	OMIM:309541
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-c...	OMIM:617836
Developmental And Epileptic Encephalopathy 52	Limb ataxia, Generalized myoclonic seizure, Spasticity, Seizure, Bilateral tonic-clonic seizure, ...	OMIM:617350
Spinocerebellar Ataxia 20	Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor	OMIM:608687
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Interictal epilep...	OMIM:619157
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:604403
Developmental And Epileptic Encephalopathy 14	Generalized tonic seizure, Focal motor seizure, Gliosis, Spasticity, Tetraplegia, Clonus, Focal a...	OMIM:614959
Developmental And Epileptic Encephalopathy 57	Epileptic spasm, Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Tonic seizure, Atypical ...	OMIM:617771
Epilepsy, Progressive Myoclonic, 9	Generalized myoclonic seizure, Frequent falls, Action myoclonus, Gait ataxia, Bilateral tonic-clo...	OMIM:616540
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Hypsarrhythmia, Chorea, Spasticity, Seizure, Infantile spasms, Bilateral tonic-c...	OMIM:616139
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with polyspike wave c...	OMIM:611364
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor	OMIM:611092
Intellectual Developmental Disorder With Seizures And Language Delay	EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic absence s...	OMIM:619000
Epilepsy, Childhood Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c...	OMIM:600131
Febrile Seizures, Familial, 8	Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c...	OMIM:607681
Valinemia	Failure to thrive, Hyperkinetic movements, Valinuria	OMIM:277100
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Enhancement of the C-reflex, EEG with irregular generalized spike ...	OMIM:601068
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal motor seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked potentials, M...	OMIM:608105
Dibasic Amino Aciduria I	Hyperlysinuria, Ornithinuria, Argininuria, Dibasicaminoaciduria	OMIM:222690
Spinocerebellar Ataxia 17	Bradykinesia, Limb ataxia, Urinary incontinence, Apraxia, Broad-based gait, Chorea, Gliosis, Posi...	OMIM:607136
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor	ORPHA:2589
Benign Familial Neonatal Epilepsy	Simple febrile seizure, Focal EEG discharges with secondary generalization, Focal-onset seizure, ...	ORPHA:1949
Developmental And Epileptic Encephalopathy 92	Difficulty walking, Inability to walk, Spasticity, Seizure, Ataxia, Myoclonus, EEG abnormality	OMIM:617829
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur...	ORPHA:101039
Stxbp1-Related Encephalopathy	Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Hypsarrhythmia, Spasticity, Tr...	ORPHA:599373
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s...	OMIM:616172
Developmental And Epileptic Encephalopathy 112	Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz...	OMIM:620537
Intellectual Developmental Disorder, Autosomal Dominant 5	Torticollis, Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG abnormality	OMIM:612621
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ...	OMIM:619606
Progressive Myoclonic Epilepsy Type 3	Focal EEG discharges with secondary generalization, Progressive cerebellar ataxia, Focal myocloni...	ORPHA:263516
Developmental And Epileptic Encephalopathy 69	Hyperkinetic movements, Inability to walk, Hypsarrhythmia, Status epilepticus, Myoclonus, Spastic...	OMIM:618285
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Hypsarrhythmia, Spasticity, Focal motor seizure, Seizure, Bilateral tonic-clonic...	OMIM:617711
Ceroid Lipofuscinosis, Neuronal, 2	Abnormal nervous system electrophysiology, Seizure, Ataxia, Myoclonus	OMIM:204500
Early Myoclonic Encephalopathy	Generalized myoclonic seizure, Focal seizure with eyelid myoclonia, Hypsarrhythmia, Focal motor s...	ORPHA:1935
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral tonic-clonic seizure...	OMIM:204300
Hsd10 Disease	Seizure, Tremor, Gait disturbance, Elevated urinary 3-hydroxybutyric acid, Rigidity, Ataxia, Myoc...	ORPHA:391417
Ceroid Lipofuscinosis, Neuronal, 5	Abnormal nervous system electrophysiology, Dysdiadochokinesis, Seizure, Limb tremor, Ataxia, Loss...	OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Seizure, Frequent falls, Gait ata...	OMIM:607317
Developmental And Epileptic Encephalopathy 40	Hypsarrhythmia, Spasticity, Seizure, Spastic tetraparesis, Myoclonus, Choreoathetosis, Small for ...	OMIM:617065
Developmental And Epileptic Encephalopathy 32	Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure...	OMIM:616366
Spinocerebellar Ataxia Type 37	Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity...	ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Seizure, Tremor...	OMIM:615362
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Seizure, Myoclonus	OMIM:217200
Adult Neuronal Ceroid Lipofuscinosis	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Ataxia, Abnormal pyram...	ORPHA:79262
Glut1 Deficiency Syndrome 1	Babinski sign, Spasticity, Seizure, Hemiparesis, Ataxia, Myoclonus, Paralysis, EEG abnormality, C...	OMIM:606777
Dentatorubral-Pallidoluysian Atrophy	Chorea, Seizure, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis	OMIM:125370
Developmental And Epileptic Encephalopathy 37	Hyperkinetic movements, Chorea, Spasticity, Cogwheel rigidity, Gait disturbance, Focal hemiclonic...	OMIM:616981
Spinocerebellar Ataxia 38	Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:615957
Glutathione Synthetase Deficiency	Seizure, Spastic tetraparesis, Intention tremor, Increased level of L-pyroglutamic acid in urine,...	OMIM:266130
Phenylketonuria	Lower limb spasticity, Phenylalaninuria, Seizure, Tremor, Ataxia, EEG abnormality	ORPHA:716
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-...	OMIM:616685
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Hypertonia, Interictal epileptiform activity, Seizure, Focal tonic seizure, Limb tremor, Slender ...	OMIM:300699
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Generalized myoclonic seizure, Seizure, Spasticity, Ataxia, Myoclonus	OMIM:545000
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Truncal ataxia, Seizure, Failure to thrive, Head titubation, Ataxia, Myoclonus, Aminoaciduria, Dy...	OMIM:250620
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Mitochondrial Complex I Deficiency, Nuclear Type 12	Generalized myoclonic seizure, Gait imbalance, Seizure, Frequent falls, Bilateral tonic-clonic se...	OMIM:301020
Encephalopathy Due To Sulfite Oxidase Deficiency	Spasticity, Seizure, Spastic tetraparesis, Hemiplegia/hemiparesis, Ataxia, Aminoaciduria	ORPHA:833
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria	OMIM:619191
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria, Bilateral tonic-clonic seizure	OMIM:249650
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Seizure, Proximal tubulopathy, Gait ataxia, Failure to thrive, Weight loss, Status epil...	OMIM:612075
Huntington Disease	Bradykinesia, Chorea, Gliosis, Seizure, Gait ataxia, Rigidity	OMIM:143100
Salt And Pepper Developmental Regression Syndrome	Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Failure to thrive, Myoclonus,...	OMIM:609056
Developmental And Epileptic Encephalopathy 108	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T...	OMIM:620115
Myoclonus-Dystonia Syndrome	Limb myoclonus, Spinal myoclonus, Torticollis, Myoclonus	ORPHA:36899
Clcn4-Related X-Linked Intellectual Disability Syndrome	Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, EE...	ORPHA:485350
Developmental And Epileptic Encephalopathy 60	Epileptic spasm, Inability to walk, Hypsarrhythmia, Seizure, Tonic seizure, Myoclonic seizure, Sp...	OMIM:617929
Rolandic Epilepsy	Focal-onset seizure, EEG with irregular generalized spike and wave complexes, Dysesthesia, Bilate...	ORPHA:1945
Familial Infantile Bilateral Striatal Necrosis	Babinski sign, Hypertonia, Astrocytosis, Spasticity, Spastic tetraparesis, Frequent falls, Gait a...	ORPHA:225154
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis	OMIM:300388
Glycine Encephalopathy 1	Hyperglycinuria, Seizure, Myoclonus	OMIM:605899
Epilepsy, Familial Temporal Lobe, 8	Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph...	OMIM:616461
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Seizure, Status epilepticus, Hemiparesis, Ataxia, Extrap...	ORPHA:71277
Saccharopinuria	Distal sensory impairment, Cystinuria, Seizure, Tremor, Gait ataxia, Hyperlysinuria, Spastic dipl...	ORPHA:3124
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital ...	OMIM:619428
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb...	OMIM:613863
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Progressive Myoclonic Epilepsy With Dystonia	Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, EEG with irregular g...	ORPHA:352596
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Gliosis, EEG abnormality, Seizure	OMIM:613002
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Generalized myoclonic seizure, Decreased nerve conduction velocity, Truncal ataxia,...	OMIM:238970
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:613060
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with...	OMIM:245570
Cystathioninuria	Cystathioninuria, Seizure, Tremor, Nephrolithiasis	ORPHA:212
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	OMIM:242600
Iminoglycinuria	Hyperglycinuria, Prolinuria, Hydroxyprolinuria	ORPHA:42062
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:604233
Hyperinsulinism-Hyperammonemia Syndrome	Generalized non-motor (absence) seizure, Generalized-onset seizure, Increased urine alpha-ketoglu...	ORPHA:35878
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Failure to thrive in infancy, S...	OMIM:619065
Intellectual Developmental Disorder, X-Linked 100	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:300923
Restless Legs Syndrome, Susceptibility To, 1	Paresthesia, Myoclonus	OMIM:102300
Combined Saposin Deficiency	Babinski sign, Generalized clonic seizure, Hyperkinetic movements, Fasciculations, Myoclonus	OMIM:611721
Epilepsy, Familial Adult Myoclonic, 2	Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble...	OMIM:607876
Myoclonus, Familial, 2	Limb myoclonus, Seizure	OMIM:618364
Infantile Neuronal Ceroid Lipofuscinosis	Chorea, Spasticity, Tremor, Poor fine motor coordination, Seizure, EEG with generalized slow acti...	ORPHA:79263
Late Infantile Neuronal Ceroid Lipofuscinosis	Focal-onset seizure, Myoclonic seizure, Atonic seizure, Ataxia, Myoclonus, EEG with spike-wave co...	ORPHA:168491
Hyperprolinemia Type 2	Prolinuria, Distal sensory impairment, Dysesthesia, Seizure, Generalized-onset seizure, Early ons...	ORPHA:79101
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Cachexia, Seizure, Abnormality of visual evoked potentials, ...	ORPHA:1933
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Elevated urine N-acetylaspartic acid level, Febrile seizure (within the age range of 3 months to ...	OMIM:618384
Pontocerebellar Hypoplasia, Type 4	Hypertonia, Seizure, Gliosis, Spasticity, Myoclonus	OMIM:225753
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Generalized non-motor (absence) seizure, Focal-onset seizure, Spastic hemiparesis, Spasticity, Se...	OMIM:619616
Huntington Disease-Like 1	Bradykinesia, Chorea, Gliosis, Incoordination, Poor fine motor coordination, Seizure, Frequent fa...	ORPHA:157941
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t...	OMIM:617924
Epilepsy, Familial Temporal Lobe, 5	EEG with spike-wave complexes, Focal aware seizure, Bilateral tonic-clonic seizure, Visually-indu...	OMIM:614417
Pyridoxine-Dependent Epilepsy	Epileptic spasm, Focal-onset seizure, Focal myoclonic seizure, Hypsarrhythmia, Seizure, Focal awa...	ORPHA:3006
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Inability to walk, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure...	OMIM:615006
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Bradykinesia, Apraxia, Gliosis, Spasticity, Shuffling gait, Seizure, Gait disturbance, Rigidity, ...	OMIM:221820
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Epileptic spasm, Erratic myoclonus, Seizure, Ataxia, Myoclonus, Spastic tetraplegia, EEG with bur...	OMIM:619971
Mitochondrial Complex I Deficiency, Nuclear Type 21	Generalized non-motor (absence) seizure, Babinski sign, Difficulty walking, Spasticity, Ataxia	OMIM:618242
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Incoordination, Gliosis, Tremor, Spasticity, Gait ataxia, Ataxia, Unsteady gait, Dys...	OMIM:213200
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal...	OMIM:613721
Bilateral Generalized Polymicrogyria	Paroxysmal dyskinesia, Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typi...	ORPHA:208447
Febrile Seizures, Familial, 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:611634
Hyperlysinemia, Type I	Argininuria, Clumsiness, Dysdiadochokinesis, Seizure, Ornithinuria, Febrile seizure (within the a...	OMIM:238700
Dystonia 3, Torsion, X-Linked	Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication, Myoclonus	OMIM:314250
Myoclonic-Astatic Epilepsy	Generalized non-motor (absence) seizure, Simple febrile seizure, Focal-onset seizure, Generalized...	ORPHA:1942
Developmental And Epileptic Encephalopathy 71	Seizure, Gliosis, EEG with burst suppression	OMIM:618328
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Somatic sen...	ORPHA:98763
Homocarnosinosis	Spastic paraplegia, Carnosinuria	OMIM:236130
Stimmler Syndrome	Ataxia, Aminoaciduria	ORPHA:3199
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Failure to thrive, Aminoaciduria	ORPHA:2278
Sporadic Creutzfeldt-Jakob Disease	Babinski sign, Hypsarrhythmia, Abnormality of extrapyramidal motor function, Astrocytosis, Gliosi...	ORPHA:204
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypertonia, Seizure, Failure to thrive, Unsteady gait, Myoclonus	OMIM:610090
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tremor, Seizure, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis	OMIM:615924
Succinic Semialdehyde Dehydrogenase Deficiency	Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure	ORPHA:22
Striatonigral Degeneration, Infantile, Mitochondrial	Babinski sign, Difficulty walking, Chorea, Incoordination, Poor motor coordination, Frequent fall...	OMIM:500003
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Tremor, Myoclonus	OMIM:619651
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Generalized non-motor (absence) seizure, Hypertonia, Seizure, Spasticity, Bilateral tonic-clonic ...	OMIM:616281
Autosomal Recessive Spastic Paraplegia Type 48	Spastic gait, Urinary incontinence, Lower limb spasticity, Broad-based gait, Urinary bladder sphi...	ORPHA:306511
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Focal-onset seizure, Normal interictal EEG, Focal sensory seizure, Infantile spasms, Generalized-...	OMIM:602066
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Distal sensory impairment, Abnormality of extrapyramidal motor function, Gliosis, Seizure, Myoclonus	OMIM:604218
Cystinuria	Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R...	OMIM:220100
Congenital Disorder Of Glycosylation, Type In	Seizure, Spasticity, Failure to thrive, Ataxia, Myoclonus	OMIM:612015
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Ataxia, Myo...	OMIM:619028
Dystonia 11, Myoclonic	Tremor, Torticollis, Myoclonus	OMIM:159900
Juvenile Huntington Disease	Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Seizure, Gait ataxia, Rigi...	ORPHA:248111
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Inability to walk, Generalized tonic seizure, Hypsarrhyt...	ORPHA:411986
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Hypertonia, Focal-onset seizure, EEG with multifocal slow activity, Bilateral to...	ORPHA:289266
Sarcosinemia	Tetraparesis, Hypersarcosinuria, Ataxia, Bilateral tonic-clonic seizure	ORPHA:3129
Infantile Convulsions And Choreoathetosis	Paroxysmal dyskinesia, Focal-onset seizure, Normal interictal EEG, Experiential epileptic aura, C...	ORPHA:31709
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Hyperkinetic movements, Inability to walk, Seizure, Bilateral tonic-clonic seizu...	OMIM:618497
2,4-Dienoyl-Coa Reductase Deficiency	Incoordination, Tetraplegia, Spasticity, Seizure, Myoclonic absence seizure, Clonus, Failure to t...	OMIM:616034
Alpers-Huttenlocher Syndrome	Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare...	ORPHA:726
Carbamoyl-Phosphate Synthetase 1 Deficiency	Seizure, Aminoaciduria	ORPHA:147
Creutzfeldt-Jakob Disease	Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia	OMIM:123400
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertonia, Myoclonus, S...	ORPHA:254343
Dystonia 23	Myoclonus, Torticollis, Gait disturbance, Head tremor	OMIM:614860
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls, Unsteady gait	OMIM:616921
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Epileptic spasm, Hyperkinetic movements, Inability to walk, Chorea, Spasticity, Seizure, Myocloni...	OMIM:614254
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Babinski sign, Hypertonia, Focal-onset seizure, Generalized myoclonic seizure, Limb hypertonia, G...	OMIM:614498
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se...	OMIM:615476
Familial Infantile Myoclonic Epilepsy	Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni...	ORPHA:352582
Spinocerebellar Ataxia 19	Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl...	OMIM:607346
Bilateral Frontoparietal Polymicrogyria	Generalized myoclonic seizure, Typical absence seizure, Gait imbalance, Bilateral tonic-clonic se...	ORPHA:101070
Severe Canavan Disease	Babinski sign, Inability to walk, Decerebrate rigidity, Elevated urine N-acetylaspartic acid leve...	ORPHA:314911
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Generalized non-motor (absence) seizure, Babinski sign, Tongue fasciculations, Seizure, Bilateral...	OMIM:618170
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokin...	ORPHA:313772
Developmental And Epileptic Encephalopathy 59	Inability to walk, Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizur...	OMIM:617904
Multiple Mitochondrial Dysfunctions Syndrome 1	Focal-onset seizure, Abnormality of extrapyramidal motor function, Hyperglycinuria, Alpha-aminoad...	OMIM:605711
Developmental And Epileptic Encephalopathy 28	Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Spasticity,...	OMIM:616211
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Mitochondrial Complex I Deficiency, Nuclear Type 31	Failure to thrive, Seizure, Dysmetria, Myoclonus	OMIM:618251
Cataracts, Spastic Paraparesis, And Speech Delay	Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com...	OMIM:619338
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus	OMIM:619647
Lysine Malabsorption Syndrome	Hyperlysinuria, Renal tubular lysine transport defect	OMIM:247950
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Urinary incontinence, Apraxia, Gliosis, Spasticity, Seizure, Gait disturbance, Myo...	OMIM:221770
Hereditary Geniospasm	Chin myoclonus	ORPHA:53372
Developmental And Epileptic Encephalopathy 1	Hypertonia, Focal-onset seizure, Generalized myoclonic seizure, Erratic myoclonus, Hypsarrhythmia...	OMIM:308350
Unilateral Focal Polymicrogyria	Simple febrile seizure, Urinary incontinence, EEG with parietal focal spikes, Spastic hemiparesis...	ORPHA:268947
Spastic Ataxia 5, Autosomal Recessive	Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Bilateral toni...	OMIM:614487
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Generalized non-motor (absence) seizure, Hypertonia, Seizure, Bilateral tonic-clonic seizure, Obe...	OMIM:619854
Developmental And Epileptic Encephalopathy 23	Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, ...	OMIM:615859
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Geniospasm 1	Chin myoclonus	OMIM:190100
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:618425
Generalized Epilepsy With Febrile Seizures Plus, Type 10	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:618482
Familial Focal Epilepsy With Variable Foci	Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Hypsarrhythmia, Infantile spasms...	ORPHA:98820
Developmental And Epileptic Encephalopathy 16	Abnormality of extrapyramidal motor function, Hemiparesis, Myoclonus, Status epilepticus, Clonic ...	OMIM:615338
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Thyrocerebrorenal Syndrome	Seizure, Nonprogressive cerebellar ataxia, Nephritis, Myoclonus, Renal insufficiency, Slurred speech	ORPHA:3327
Sulfite Oxidase Deficiency, Isolated	Hypertonia, Decreased urinary sulfate, Increased urinary sulfite level, Hemiplegia, Bilateral ton...	OMIM:272300
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Myoclonic Epilepsy, Familial Infantile	Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ...	OMIM:605021
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Seizure, Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Genera...	OMIM:612016
Lafora Disease	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Inab...	ORPHA:501
Pyruvate Dehydrogenase E1-Alpha Deficiency	Inability to walk, Hypsarrhythmia, EEG with focal spikes, Gliosis, EEG with focal sharp waves, Se...	ORPHA:79243
Spinocerebellar Ataxia, Autosomal Recessive 27	Torticollis, Gait imbalance, Gliosis, Spasticity, Frequent falls, Gait ataxia, Gait disturbance, ...	OMIM:618369
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Spasticity, Gliosis, Tremor, Seizure, Gait disturbance, Microphallus, Tru...	OMIM:300957
Spinocerebellar Ataxia, Autosomal Recessive 32	Bradykinesia, Limb ataxia, Torticollis, Abnormal nerve conduction velocity, Gait ataxia, Limb myo...	OMIM:619862
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hypertonia, Hyperkinetic movements, Homocystinuria, Seizure, Gait disturbance, Failure to thrive,...	OMIM:236270
3-Hydroxyisobutyric Aciduria	Failure to thrive, Aminoaciduria	OMIM:236795
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Lowe...	ORPHA:395
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Seizure, Tremor, Myoclonus, Choreoathetosis	OMIM:261630
Intellectual Developmental Disorder, Autosomal Dominant 45	Generalized non-motor (absence) seizure, Chorea, Cerebral palsy, Bilateral tonic-clonic seizure, ...	OMIM:617600
Galactosemia Iii	Failure to thrive, Aminoaciduria, Galactosuria	OMIM:230350
Intellectual Developmental Disorder, X-Linked 41	Generalized non-motor (absence) seizure	OMIM:300849
Sialidosis Type 1	Decreased nerve conduction velocity, Increased urinary O-linked sialopeptides, Seizure, Tremor, G...	ORPHA:812
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Ceroid Lipofuscinosis, Neuronal, 1	Seizure, Spasticity, Ataxia, Myoclonus, EEG abnormality	OMIM:256730
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, EEG with occipital epileptiform discha...	ORPHA:254881
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized myoclonic seizure, Difficulty walking, Tongue fasciculations, Tremor, Generalized-ons...	OMIM:159950
Atypical Juvenile Parkinsonism	Bradykinesia, Akinesia, Inability to walk, Resting tremor, Seizure, Shuffling gait, Gait ataxia, ...	ORPHA:391411
Combined Oxidative Phosphorylation Deficiency 14	Gliosis, Seizure, Basal ganglia gliosis, Myoclonic seizure, Myoclonus, EEG abnormality, Aminoacid...	OMIM:614946
Isolated Focal Cortical Dysplasia	Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-...	ORPHA:65683
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Pontocerebellar Hypoplasia, Type 1E	EEG with burst suppression, Myoclonus	OMIM:619303
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthinuria, Decreased urinary sulfate, Gliosis, Increased urinary taurine, Spastic tetraparesis,...	OMIM:252150
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus	OMIM:616494
D-Glyceric Aciduria	Focal clonic seizure, Appendicular spasticity, Hypsarrhythmia, Spasticity, Seizure, Bilateral ton...	OMIM:220120
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Babinski sign, Apraxia, Seizure, Gait disturbance, Myoclonus, EEG abnormality	OMIM:618193
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Hypertonia, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Myoclonus, Clonic s...	OMIM:617290
Seizures, Benign Familial Infantile, 5	Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Obesity, Hyperphagia, And Developmental Delay	Generalized non-motor (absence) seizure, Seizure, Obesity	OMIM:613886
Autosomal Dominant Epilepsy With Auditory Features	Focal-onset seizure, Nocturnal seizures, Interictal epileptiform activity, Focal aware seizure, G...	ORPHA:101046
Molybdenum Cofactor Deficiency, Complementation Group B	Hypertonia, Xanthinuria, Gliosis, Increased urinary taurine, Seizure, Decreased urinary urate, Bi...	OMIM:252160
Foxg1 Syndrome	Difficulty walking, Hyperkinetic movements, Inability to walk, Focal-onset seizure, Spasticity, I...	ORPHA:561854
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Hyperkinetic movements, Gliosis, Tremor, Seizure, Gait disturbance, Bilateral tonic-clonic seizur...	ORPHA:457240
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Hyperkinetic movements, Inability to walk, Loss of ability to walk in early childhood, Spasticity...	OMIM:612073
Non-Specific Early-Onset Epileptic Encephalopathy	Difficulty walking, Limb hypertonia, Hypsarrhythmia, EEG with multifocal slow activity, Spasticit...	ORPHA:442835
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Abnormality of pain sensation, Myoclonic absence seizure, Tremor, Generalized-onset ...	ORPHA:544254
L-2-Hydroxyglutaric Aciduria	Abnormality of extrapyramidal motor function, Gliosis, Seizure, Spastic tetraparesis, Ataxia, Abn...	OMIM:236792
Developmental And Epileptic Encephalopathy 42	Hypertonia, Tremor, Athetosis, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure...	OMIM:617106
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Babinski sign, Hypertonia, Decreased nerve conduction velocity, Dysdiadochokinesis, Seizure, Inte...	OMIM:618356
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Inability to walk, Seizure, Aminoaciduria, Loss of ability to walk in early childhood	OMIM:609560
Corticobasal Syndrome	Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid...	ORPHA:454887
Methionine Malabsorption Syndrome	Seizure, Aminoaciduria	OMIM:250900
Galactose Epimerase Deficiency	Aminoaciduria, Weight loss	ORPHA:79238
Atypical Rett Syndrome	Pill-rolling tremor, Generalized myoclonic seizure, Neonatal seizure, Inability to walk, Apraxia,...	ORPHA:3095
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Bradykinesia, Hypertonia, Hyperkinetic movements, Falls, Hypsarrhythmia, Chorea, Abnormality of e...	ORPHA:13
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Generalized aminoaciduria, Renal tubular dysfunction	OMIM:606528
Dicarboxylic Aminoaciduria	Aspartic aciduria, Aminoaciduria, Nephrolithiasis	OMIM:222730
Hydroxykynureninuria	Elevated urinary xanthurenic acid level, Elevated urinary 3-hydroxykynurenine level	OMIM:236800
Canavan Disease	Epileptic spasm, Hypsarrhythmia, Elevated urine N-acetylaspartic acid level, Bilateral tonic-clon...	OMIM:271900
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Babinski sign, Hypertonia, Gliosis, Spasticity, Seizure, Cerebral palsy, Clonus, Febrile seizure ...	OMIM:619847
Ceroid Lipofuscinosis, Neuronal, 3	Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Loss of am...	OMIM:204200
Peho-Like Syndrome	Hypsarrhythmia, Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus	OMIM:617507
Dystonia 6, Torsion	Torticollis, Myoclonus	OMIM:602629
Pontocerebellar Hypoplasia Type 4	Seizure, Hypertonia, Myoclonus	ORPHA:166063
Spinocerebellar Ataxia 2	Bradykinesia, Babinski sign, Limb ataxia, Urinary incontinence, Progressive cerebellar ataxia, Oc...	OMIM:183090
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Generalized non-motor (absence) seizure	ORPHA:370943
Epilepsy, Childhood Absence, Susceptibility To, 5	Generalized non-motor (absence) seizure	OMIM:612269
Hyperekplexia 4	Hypertonia, Hypsarrhythmia, Infantile spasms, Seizure, Myoclonus	OMIM:618011
Glutamate-Cysteine Ligase Deficiency	Ataxia, Aminoaciduria	ORPHA:33574
Congenital Neuronal Ceroid Lipofuscinosis	Abnormal astrocyte morphology, Spasticity, Gliosis, Seizure, Myoclonic seizure, Status epilepticu...	ORPHA:168486
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Muscular Dystrophy, Congenital, With Or Without Seizures	Generalized non-motor (absence) seizure, Focal-onset seizure, Interictal epileptiform activity, G...	OMIM:620166
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Hypertonia, Focal-onset seizure, Impaired tactile sensation, Bilateral tonic-clonic seizure with ...	OMIM:619092
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Progressive cerebellar ataxia, Seizure, Tremor, Myoclonus, Abnormal pyramidal sign	ORPHA:139485
D-Glyceric Aciduria	Hyperglycinuria, Seizure, Spasticity, Chorea, Myoclonus	ORPHA:941
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia,...	ORPHA:101
Glutathionuria	Glutathionuria, Urinary incontinence, Dysdiadochokinesis, Tremor, Action tremor	OMIM:231950
Early Infantile Epileptic Encephalopathy	Focal-onset seizure, Ureterocele, Atonic seizure, Myoclonus, EEG abnormality, Generalized non-mot...	ORPHA:1934
Developmental And Epileptic Encephalopathy 110	Generalized non-motor (absence) seizure, Chorea, Spasticity, Focal impaired awareness hemiclonic ...	OMIM:620149
Machado-Joseph Disease	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula...	OMIM:109150
Arthrogryposis, Impaired Intellectual Development, And Seizures	Generalized non-motor (absence) seizure, Focal motor seizure	OMIM:615553
Alexander Disease	Babinski sign, Spasticity, Seizure, Ataxia, Dysmetria, Palatal tremor	OMIM:203450
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Thyrocerebroretinal Syndrome	Seizure, Nephritis, Ataxia, Myoclonus, Slurred speech	OMIM:274240
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Seizure, Bilateral tonic-clonic seizure with focal onset, Intention tremor, Myoclonus, Status epi...	OMIM:610539
Alexander Disease Type I	Cachexia, Spasticity, Seizure, Failure to thrive, Ataxia, Abnormal pyramidal sign, Palatal tremor	ORPHA:363717
Dystonia 28, Childhood-Onset	Tip-toe gait, Torticollis, Retrocollis, Spasticity, Tremor, Gait disturbance, Myoclonus	OMIM:617284
5-Oxoprolinase Deficiency	Calcium oxalate nephrolithiasis, Prolinuria, Increased level of L-pyroglutamic acid in urine	OMIM:260005
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence, Seizure, Spasticity, Ataxia, Myoclonus	OMIM:620094
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614280
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares...	ORPHA:282166
Lipoid Proteinosis Of Urbach And Wiethe	Generalized non-motor (absence) seizure, Seizure	OMIM:247100
Dermotrichic Syndrome	Seizure, EEG abnormality, Aminoaciduria	ORPHA:99688
Childhood-Onset Spasticity With Hyperglycinemia	Babinski sign, Hypertonia, Spastic dysarthria, Loss of ability to walk in early childhood, Progre...	ORPHA:401866
Den Hoed-De Boer-Voisin Syndrome	Focal-onset seizure, Ataxia, Myoclonus, EEG abnormality, Generalized non-motor (absence) seizure,...	OMIM:619229
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized myoclonic seizure, Hypertonia, Limb hypertonia, Increased urinary taurine, Generalize...	OMIM:615501
Phosphoserine Aminotransferase Deficiency	Seizure, Hypertonia, Myoclonus	OMIM:610992
Huntington Disease	Bradykinesia, Babinski sign, Difficulty walking, Decreased body mass index, Gait imbalance, Inabi...	ORPHA:399
Autosomal Spastic Paraplegia Type 58	Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ...	ORPHA:397946
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Babinski sign, Urinary incontinence, Astrocytosis, Gait disturbance, Rigidity, Myoclonus	OMIM:600795
Spinocerebellar Ataxia 50	Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor	OMIM:620158
Intellectual Developmental Disorder, Autosomal Dominant 42	Focal-onset seizure, Cerebral palsy, Myoclonic seizure, Atonic seizure, Myoclonus, Hemiplegia, Ge...	OMIM:616973
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Hypertonia, Inability to walk, Hypsarrhythmia, Focal emotional seizure with laug...	ORPHA:293181
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Distal sensory impairment, Fasciculations, Gliosis, Tetraplegia, Gait disturbance, Hand tremor	OMIM:604484
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure	OMIM:615637
Childhood Absence Epilepsy	Typical absence seizure, Urinary incontinence, Myoclonic absence seizure, Bilateral tonic-clonic ...	ORPHA:64280
Glutamate Formiminotransferase Deficiency	Elevated urinary formiminoglutamic acid level, Aminoaciduria	OMIM:229100
Spinocerebellar Ataxia 13	Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Impaired distal vibration...	OMIM:605259
Periventricular Nodular Heterotopia 7	Generalized non-motor (absence) seizure, Hypsarrhythmia, Infantile spasms, Seizure, Failure to th...	OMIM:617201
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Seizure, Failure to thrive, Rigidity, Myoclonus, EEG abnormality	OMIM:300673
Spastic Paraplegia 50, Autosomal Recessive	Babinski sign, Limb hypertonia, Gliosis, Seizure, Cerebral palsy, Ataxia, Spastic tetraplegia	OMIM:612936
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Leukoencephalopathy With Vanishing White Matter 1	Seizure, Gliosis, Spasticity, Gait disturbance, Unsteady gait	OMIM:603896
Lissencephaly Due To Lis1 Mutation	Generalized myoclonic seizure, EEG with spike-wave complexes, Generalized tonic seizure, Hypsarrh...	ORPHA:95232
Mitochondrial Complex I Deficiency, Nuclear Type 19	Inability to walk, Seizure, Athetosis, Gait disturbance, Rigidity, Loss of ambulation, Myoclonus	OMIM:618241
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abnormality of extrapyrami...	ORPHA:275872
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Bi...	OMIM:619725
Spinocerebellar Ataxia Type 36	Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at...	ORPHA:276198
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Urinary incontinence, Inability to walk, Truncal ataxia,...	OMIM:618877
Caribbean Parkinsonism	Bradykinesia, Apraxia, Action tremor, Rigidity, Parkinsonism, Myoclonus, Weakness due to upper mo...	ORPHA:97355
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Hypertonia, Gliosis, Seizure, Tetraplegia, Spastic tetraplegia	OMIM:608033
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti...	OMIM:606693
Primary Non-Essential Cutis Verticis Gyrata	Seizure, Gliosis, Abnormality of pattern visual evoked potentials	ORPHA:357225
Intellectual Developmental Disorder, Autosomal Dominant 39	Generalized non-motor (absence) seizure, Obesity, Focal impaired awareness seizure	OMIM:616521
2P21 Microdeletion Syndrome	Failure to thrive, Seizure, Nephrolithiasis, Cystinuria	ORPHA:163693
Benign Familial Neonatal-Infantile Seizures	Neonatal seizure, EEG with focal spikes, Episodic ataxia, Bilateral tonic-clonic seizure, Tonic s...	ORPHA:140927
Gaucher Disease, Type Iii	Generalized myoclonic seizure, Decreased body weight, Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Gait imbalance, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Seizure,...	ORPHA:98795
Familial Dyskinesia And Facial Myokymia	Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Myoclonus	ORPHA:324588
Gracile Syndrome	Aminoaciduria	OMIM:603358
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Tremor, Gait ataxia, Intenti...	OMIM:616505
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure, Bilateral tonic-clonic sei...	OMIM:601764
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Myoclonus,...	OMIM:606703
Argininosuccinic Aciduria	EEG abnormality, Oroticaciduria, Ataxia, Aminoaciduria	ORPHA:23
Spinocerebellar Ataxia Type 10	Babinski sign, Progressive cerebellar ataxia, Gait imbalance, Lower limb spasticity, Dysdiadochok...	ORPHA:98761
Intellectual Developmental Disorder, X-Linked 30	Clumsiness, Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:300558
Developmental And Epileptic Encephalopathy 68	Spasticity, Exaggerated startle response, Clonus, Failure to thrive, Myoclonus, Status epilepticus	OMIM:618201
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Small for gestational age, Myoclonus	OMIM:619057
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Babinski sign, Positive Romberg sign, Dysdiadochokinesis, Seizure, Organic aciduria, Interictal E...	OMIM:301310
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Seizure, Spastic tetraparesis, Gait disturbance, Failure to thrive, Hyperphosphaturia, Glycosuria...	ORPHA:436271
Guanidinoacetate Methyltransferase Deficiency	Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Chorea, Seizure, Ath...	ORPHA:382
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Gait ataxia, Rigidity,...	ORPHA:101150
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Ataxia-Telangiectasia-Like Disorder	Oculomotor apraxia, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxia, Intention tremor, At...	ORPHA:251347
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Gliosis, Seizure, Abnormality of visual evoked potentials, A...	OMIM:256600
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Generalized non-motor (absence) seizure, Inability to walk, Lower limb spasticity, Hypospadias, C...	OMIM:300260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Generalized non-motor (absence) seizure, Babinski sign, Large for gestational age, Hydroureter, H...	OMIM:615398
Neurodevelopmental Disorder With Involuntary Movements	Hyperkinetic movements, Chorea, Spasticity, Athetosis, Infantile spasms, Bilateral tonic-clonic s...	OMIM:617493
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Paroxysmal dyskinesia, Babinski sign, Chorea, Spasticity, Athetosis, Blepharospasm, Gait disturba...	OMIM:617282
Schindler Disease, Type I	Seizure, Spasticity, Increased urinary O-linked sialopeptides, Myoclonus	OMIM:609241
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Epileptic spasm, Hypsarrhythmia, Decreased body weight, Failure to thrive, Myoclonus	OMIM:619060
Combined Oxidative Phosphorylation Deficiency 52	Seizure, Renal insufficiency, Aminoaciduria, Lacticaciduria	OMIM:619386
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Generalized non-motor (absence) seizure, Seizure	OMIM:616033
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Leigh Syndrome	3-Methylglutaconic aciduria, Generalized aminoaciduria, Chorea, Ataxia, Complex organic aciduria,...	ORPHA:506
Myoclonic Epilepsy Of Lafora 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Apraxia, Gait disturbance...	OMIM:254780
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Resting tremor, Gliosis, Shuffling gait, Gait disturbance, Urinary urgency, Rigidit...	OMIM:168601
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria	OMIM:615158
Tubulinopathy-Associated Dysgyria	Generalized non-motor (absence) seizure, Startle-induced seizure, Oculomotor apraxia, Infantile s...	ORPHA:467166
Spinocerebellar Ataxia 48	Babinski sign, Urinary incontinence, Chorea, Cachexia, Tremor, Bilateral tonic-clonic seizure, Ga...	OMIM:618093
Mitochondrial Dna Depletion Syndrome 19	Focal-onset seizure, Hypospadias, Spasticity, Infantile spasms, Myoclonus, Multifocal epileptifor...	OMIM:618972
Leigh Syndrome	Seizure, Gliosis, Spasticity, Failure to thrive, Ataxia	OMIM:256000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Hypertonia, Failure to thrive, Renal hypoplasia, Aminoaciduria, Lact...	OMIM:604273
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinary ho...	OMIM:256700
Harel-Yoon Syndrome	Generalized non-motor (absence) seizure, Spasticity, Ataxia, Inability to walk	OMIM:617183
Mitochondrial Complex I Deficiency, Nuclear Type 4	Seizure, Spasticity, Myoclonic seizure, Ataxia, Myoclonus	OMIM:618225
Posttransplant Acute Limbic Encephalitis	Seizure, EEG with focal epileptiform discharges, Ataxia, Myoclonus, EEG with abnormally slow freq...	ORPHA:163921
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Hypertonia, EEG with polyspike wave complexes, EEG with focal sharp waves, Seizu...	ORPHA:284417
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Generalized non-motor (absence) seizure, Eyelid myoclonus, Absence seizure with eyelid myoclonia,...	OMIM:613839
Spinocerebellar Ataxia Type 13	Bradykinesia, Limb ataxia, Difficulty walking, Urinary incontinence, Torticollis, Seizure, Impair...	ORPHA:98768
Liang-Wang Syndrome	Generalized non-motor (absence) seizure, Status epilepticus, Ataxia	OMIM:618729
Congenital Disorder Of Glycosylation, Type Iif	Seizure, Ataxia, Aminoaciduria, Proteinuria	OMIM:603585
Epilepsy, Progressive Myoclonic, 10	Generalized myoclonic seizure, Urinary incontinence, Progressive cerebellar ataxia, Spasticity, S...	OMIM:616640
Intellectual Developmental Disorder, Autosomal Dominant 74	Typical absence seizure, Hypertonia, Bilateral tonic-clonic seizure	OMIM:620688
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine	OMIM:231900
Paroxysmal Non-Kinesigenic Dyskinesia	Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi...	ORPHA:98810
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Gliosis, Athetosis	OMIM:300857
Phenylketonuria	Seizure, Increased level of hippuric acid in urine, Elevated urinary phenylpyruvic acid level, El...	OMIM:261600
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Seizure, Spasticity, Generalized-onset seizure, Gait disturbance, Failure to thri...	OMIM:250940
Pyridoxal Phosphate-Responsive Seizures	Hypertonia, Seizure, Failure to thrive, Unsteady gait, Myoclonus, Status epilepticus, EEG with bu...	ORPHA:79096
Thiamine-Responsive Megaloblastic Anemia Syndrome	Seizure, Ataxia, Aminoaciduria	OMIM:249270
Hartnup Disease	Seizure, Ataxia, EEG abnormality, Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Severe Neurodegenerative Syndrome With Lipodystrophy	Spasticity, Tremor, Seizure, Poor motor coordination, Gait ataxia, Ataxia, Myoclonus, Abnormal py...	ORPHA:363400
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa...	OMIM:137440
Gerstmann-Straussler-Scheinker Syndrome	Abnormality of extrapyramidal motor function, Dysesthesia, Limb myoclonus, Gait ataxia, Acropares...	ORPHA:356
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Dibasicaminoaciduria	OMIM:238750
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, I...	ORPHA:404454
Tay-Sachs Disease	Typical absence seizure, Inability to walk, Ankle clonus, Fasciculations, Incoordination, Gliosis...	ORPHA:845
Seizures, Benign Familial Infantile, 3	Focal impaired awareness seizure, Normal interictal EEG, Bilateral tonic-clonic seizure, Bilatera...	OMIM:607745
Hereditary Hyperekplexia	Hypertonia, Fasciculations, Spasticity, Seizure, Gait disturbance, Rigidity, Ataxia, Myoclonus	ORPHA:3197
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Hypsarrhythmia, Seizure, Infantile spasms, Involuntary movements, Clonus...	OMIM:620352
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, Tremor, Episodic ataxia, Myoclonus, Choreoathetosis, Small for gestational age	OMIM:312170
Myoclonus, Intractable, Neonatal	Chorea, Athetosis, Clonic seizure, Myoclonus	OMIM:617235
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Babinski sign, 3-Methylglutaconic aciduria, Hyperkinetic movements, Elevated urine acetoacetic ac...	OMIM:620089
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Seizure, Clonus, Failure to thrive, Neonatal death, Myoclonus, Spastic...	OMIM:619055
Alpha-Methylacetoacetic Aciduria	Elevated urinary 2-methyl-3-hydroxybutyric acid level	OMIM:203750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Generalized non-motor (absence) seizure	OMIM:618992
Subependymal Nodular Heterotopia	Focal-onset seizure, Seizure, Focal aware seizure, Limb myoclonus, Interictal EEG abnormality, EE...	ORPHA:101030
Microcephaly 10, Primary, Autosomal Recessive	Small for gestational age, Gliosis, Hypertonia, Spasticity	OMIM:615095
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Babinski sign, Truncal ataxia, Spasticity, Seizure, Ataxia, Myoclonus	OMIM:252011
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Generalized myoclonic seizure, Histidinuria	OMIM:235830
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Apraxia, Gliosis, Paraparesis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis	OMIM:105550
Tyrosinemia Type 1	Generalized aminoaciduria	ORPHA:882
Intellectual Developmental Disorder, Autosomal Recessive 57	Generalized myoclonic seizure, Hypertonia, Focal-onset seizure, Inability to walk, Seizure, Gener...	OMIM:617188
Lipoyltransferase 1 Deficiency	Abnormality of extrapyramidal motor function, Spastic tetraparesis, Hyperglutaminuria, Alaninuria...	OMIM:616299
Narp Syndrome	Babinski sign, Seizure, Myoclonic spasms, Ataxia, Progressive gait ataxia	ORPHA:644
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ...	OMIM:615605
Alzheimer Disease 3	Babinski sign, Apraxia, Optic ataxia, Abnormality of extrapyramidal motor function, Seizure, Spas...	OMIM:607822
Mepan Syndrome	Chorea, Spasticity, Gait disturbance, Abnormality of visual evoked potentials, Failure to thrive,...	ORPHA:508093
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Gliosis, Lower limb spasticity	OMIM:615119
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Inability to walk, Limb h...	ORPHA:457351
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Oculomotor apraxia, Incoordination, Seizure, Tremor, Hydronephrosis, Ataxia, Ab...	OMIM:618060
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradykinesia, Inability to walk, Lower limb spasticity, Oromotor apraxia, Broad-based gait, Spast...	OMIM:617854
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Truncal ataxia, Seizure, Failure to thrive, Hyperphosphaturia, Glycosuria, Ataxia, Proteinuria, R...	OMIM:220110
Riboflavin Transporter Deficiency	Cachexia, Seizure, Tremor, Ataxia, Myoclonus	ORPHA:97229
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Nephrocalcinosis, Chronic...	OMIM:300555
Intellectual Developmental Disorder, X-Linked 98	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Urinary incontinence, Low...	OMIM:300912
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Seizure, Failure to thrive, Aminoaciduria, Ketonuria	OMIM:614520
3-Methylglutaconic Aciduria, Type Viia	3-Methylglutaconic aciduria, Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical ...	OMIM:619835
Tryptophanuria With Dwarfism	Tryptophanuria, Ataxia, Gait disturbance	OMIM:276100
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig...	ORPHA:53351
Glycosylphosphatidylinositol Biosynthesis Defect 1	Generalized non-motor (absence) seizure, Atonic seizure	OMIM:610293
Pelizaeus-Merzbacher Disease, Connatal Form	Difficulty walking, Inability to walk, Lower limb spasticity, Gliosis, Titubation, Failure to thr...	ORPHA:280210
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Generalized non-motor (absence) seizure, Epileptic spasm, Hypertonia, Generalized myoclonic seizu...	ORPHA:79351
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Difficulty walking, Appendicular spasticity, Gliosis, Exaggerated s...	OMIM:620451
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Hydroureter, Myoclonic seizure, Hydronephrosis, Myoclonus	OMIM:618240
Hypertryptophanemia	Tryptophanuria	OMIM:600627
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Hypertonia, Focal myoclonic seizure, 3-Methylglutaconic aciduria, A...	OMIM:203700
Chromosome Xp11.23-P11.22 Duplication Syndrome	Generalized non-motor (absence) seizure, EEG abnormality	OMIM:300801
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Epileptic spasm, Urinary incontinence, Inability to walk, Lower limb spasticity, Tongue fascicula...	OMIM:617193
Pontocerebellar Hypoplasia, Type 2E	Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spasticity, Infantile spasms, ...	OMIM:615851
Nicolaides-Baraitser Syndrome	Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus	ORPHA:3051
Papillorenal Syndrome	Stage 5 chronic kidney disease, Hematuria, Horseshoe kidney, Seizure, Gliosis, Mild proteinuria, ...	OMIM:120330
Neuraminidase Deficiency	Seizure, Urinary excretion of sialylated oligosaccharides, Proteinuria, Myoclonus, Dysmetria, Inc...	OMIM:256550
Familial Acute Necrotizing Encephalopathy	Hypertonia, Gliosis, Spasticity, Seizure, Gait disturbance, Rigidity, Spastic tetraplegia	ORPHA:88619
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
Gm1-Gangliosidosis, Type Iii	Seizure, Ataxia, Slurred speech, Myoclonus	OMIM:230650
Combined Oxidative Phosphorylation Deficiency 27	Chorea, Bilateral tonic-clonic seizure, Status epilepticus, Failure to thrive, Opisthotonus, Myoc...	OMIM:616672
Hyperlysinemia	Tip-toe gait, Simple febrile seizure, Argininuria, EEG with spike-wave complexes, Neck hypertonia...	ORPHA:2203
Lissencephaly, X-Linked, 2	Seizure, Gliosis, Micropenis, Spasticity	OMIM:300215
Hypotonia-Cystinuria Syndrome	Failure to thrive, Nephrolithiasis, Cystinuria	ORPHA:163690
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia	OMIM:183050
Muscular Dystrophy, Cardiac Type	Carnosinuria	OMIM:309930
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Hand tremor, Torticollis, Blepharospasm, Upper limb postural tremor, Myoclonus, Vocal tremor	ORPHA:420485
Juvenile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Seizure, Poor motor coordination, Interictal EEG abnormality, Myocl...	ORPHA:79264
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Generalized-onset seizure, Nephropathy, Focal segmental glomerulosclerosis, Inten...	OMIM:254900
Satb2-Associated Syndrome Due To A Pathogenic Variant	Typical absence seizure, Seizure	ORPHA:576283
Baker-Gordon Syndrome	Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Involuntary movements, Ataxia...	OMIM:618218
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Hypsarrhythmia, Chorea, Gliosis, Seizure, Infantile spasms, Gait ataxia, Ataxia, Myoclonus, Spast...	OMIM:618321
Gyrate Atrophy Of Choroid And Retina	Seizure, Aminoaciduria	ORPHA:414
Pontocerebellar Hypoplasia, Type 2A	Chorea, Seizure, Gliosis, Opisthotonus, Extrapyramidal dyskinesia	OMIM:277470
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Abnormality of extrapyramidal motor function, Spasticity, Seizure, Hemiplegia/hemiparesis, Myoclo...	ORPHA:79279
Parkinsonian-Pyramidal Syndrome	Bradykinesia, Babinski sign, Spasticity, Neurogenic bladder, Shuffling gait, Intention tremor, Ri...	ORPHA:171695
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic gait, Babinski sign, Paroxysmal dyskinesia, Seizure, Gait disturbance, Spastic paraplegia...	OMIM:620538
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Generalized-onset sei...	ORPHA:284289
Hyperphenylalaninemia, Bh4-Deficient, B	Decreased urinary biopterin level, Hyperkinetic movements, Limb hypertonia, Seizure, Tremor, Rigi...	OMIM:233910
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Neurogenic bladder, Involuntary movements, Myoclonus, Abnormal pyramidal sign, Dysmetria	OMIM:619780
Alexander Disease Type Ii	Babinski sign, Spasticity, Urinary bladder sphincter dysfunction, Rigidity, Ataxia, Spastic parap...	ORPHA:363722
Galactosemia I	Galactosuria, Increased level of galactitol in urine, Failure to thrive, Albuminuria, Aminoaciduria	OMIM:230400
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Generalized non-motor (absence) seizure, Inability to walk by childhood/adolescence, Torticollis,...	OMIM:620224
Developmental And Epileptic Encephalopathy 72	Hypsarrhythmia, Infantile spasms, Hyperkinetic movements, Inability to walk	OMIM:618374
Coenzyme Q10 Deficiency, Primary, 1	Glomerular sclerosis, Recurrent myoglobinuria, Right hemiplegia, Seizure, Tremor, Focal segmental...	OMIM:607426
Microcephaly, Amish Type	Failure to thrive, Limb hypertonia, Myoclonus	OMIM:607196
Developmental And Epileptic Encephalopathy 2	Generalized myoclonic seizure, Inability to walk, Hypsarrhythmia, Seizure, Infantile spasms, Gene...	OMIM:300672
Spinocerebellar Ataxia 29	Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre...	OMIM:117360
Angelman Syndrome	Generalized myoclonic seizure, Inability to walk, Broad-based gait, Seizure, Tremor, Infantile sp...	ORPHA:72
Autosomal Recessive Spastic Paraplegia Type 77	Bradykinesia, Babinski sign, Detrusor sphincter dyssynergia, Urinary incontinence, Scissor gait, ...	ORPHA:466722
Cystinosis	Nephropathy, Gait disturbance, Failure to thrive, Proteinuria, Abnormal pyramidal sign, Renal ins...	ORPHA:213
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206436
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Gliosis, Seizure, Absent brainstem auditory responses, Head titubation, Spastic tetraplegia	ORPHA:3240
Houge-Janssens Syndrome 3	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil...	OMIM:618354
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Generalized non-motor (absence) seizure, Babinski sign, Hypertonia, Seizure, Spasticity, Bilatera...	OMIM:615802
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Seizure, Neonatal death, Ataxia, Myoclonus, Ketonuria, Lacticaciduria	OMIM:619167
Nipah Virus Disease	Seizure, Tremor, Myoclonus	ORPHA:99825
Myasthenic Syndrome, Congenital, 22	Waddling gait, Cystinuria	OMIM:616224
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Hypertonia, Abnormality of extrapyramidal motor function, Spasticity...	ORPHA:445038
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Decreased sensory nerve conduction velocity, Hyperkinetic movements,...	OMIM:615273
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Seizure, Hyperkinetic movements	ORPHA:397933
Juvenile Sialidosis Type 2	Abnormality of the kidney, Generalized myoclonic seizure, Lower limb spasticity, Spasticity, Seiz...	ORPHA:93399
Dystonia 34, Myoclonic	Torticollis, Head tremor, Myoclonus, Impaired tandem gait, Hand tremor	OMIM:619724
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Glutaric aciduria, Increased level of hippuric acid in urine, Seizure, Spasticity, Organic acidur...	OMIM:246450
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Seizure, Spasticity, Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Febril...	OMIM:612949
Intellectual Developmental Disorder, Autosomal Dominant 53	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Involuntary movements, F...	OMIM:617798
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Glucoglycinuria	Glycosuria, Hyperglycinuria	OMIM:138070
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai...	OMIM:134600
Isovaleric Acidemia	Elevated urinary isovalerylglycine level, Hyperglycinuria, Seizure	OMIM:243500
Cerebrooculofacioskeletal Syndrome 1	Seizure, Failure to thrive, Gliosis, Small for gestational age	OMIM:214150
Multiple Mitochondrial Dysfunctions Syndrome 3	Spastic tetraplegia, Beta-aminoisobutyric aciduria, Seizure	OMIM:615330
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Proximal tubulopathy, Failure to thrive, Ataxia, Myoclonus	OMIM:560000
Adenylosuccinase Deficiency	Elevated urinary succinylaminoimidazole carboxamide riboside level, Inability to walk, Spasticity...	OMIM:103050
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Seizure, Organic aciduria, Cerebral palsy, Failure to thrive, Opisthotonus, Keto...	OMIM:210210
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Seizure, Broad-based gait, Myoclonus	OMIM:616158
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ...	OMIM:619574
Ornithine Transcarbamylase Deficiency	Aminoaciduria	ORPHA:664
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Broad-based gait, Seizure, Tremor, Obesity, Ataxia, Myoclonus, EEG with abnormall...	ORPHA:98794
Cog8-Cdg	Failure to thrive, Seizure, Ataxia, Myoclonus	ORPHA:95428
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Epileptic spasm, Appendicular spasticity, Hypsarrhythmia, Seizure, Neurogenic bladder, Myoclonus	OMIM:617669
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Gliosis, Spasticity, Seizure, Failure to thrive, Neonatal death, Ataxia, EEG ab...	OMIM:124000
Microcephaly-Capillary Malformation Syndrome	Seizure, Infantile spasms, Spastic tetraparesis, Vesicoureteral reflux, Failure to thrive, Myoclo...	OMIM:614261
Combined Oxidative Phosphorylation Deficiency 24	Seizure, Gliosis, Spasticity, Focal segmental glomerulosclerosis, Status epilepticus	OMIM:616239
Galloway-Mowat Syndrome 10	Podocyte foot process effacement, Proteinuria, Myoclonus, Diffuse mesangial sclerosis, Stage 5 ch...	OMIM:619609
Developmental And Epileptic Encephalopathy 49	Facial-lingual fasciculations, Spasticity, Exaggerated startle response, Bilateral tonic-clonic s...	OMIM:617281
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Renal tubular acidosis, Tongue fasciculations, Seizure, Renal cyst, Renal hypoplasia,...	OMIM:614922
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Babinski sign, Gliosis, Spasticity, Ataxia, Pseudobulbar paralysis	OMIM:169500
X-Linked Intellectual Disability Due To Gria3 Mutations	Babinski sign, Seizure, Spasticity, Bilateral tonic-clonic seizure, Slender build, Hydronephrosis...	ORPHA:364028
Neurodevelopmental Disorder With Spasticity And Poor Growth	Babinski sign, Oculomotor apraxia, Limb hypertonia, Hypsarrhythmia, Spasticity, Seizure, Infantil...	OMIM:618076
Fanconi Renotubular Syndrome 5	Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria	OMIM:618913
Peho Syndrome	Hypsarrhythmia, Undetectable visual evoked potentials, Seizure, Myoclonus	OMIM:260565
Fatal Familial Insomnia	Urinary retention, Ataxia, Weight loss, Myoclonus	OMIM:600072
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Renal tubular acidosis, Glycosuria, Failure to thrive, Nephrocalcinosis, Proteinuria, Nephropathy...	OMIM:613404
Hyperekplexia 1	Hypertonia, Nocturnal seizures, Seizure, Frequent falls, Exaggerated startle response, Myoclonus	OMIM:149400
Hyperekplexia 3	Hypertonia, Bilateral tonic-clonic seizure, Exaggerated startle response, Myoclonus	OMIM:614618
Hypotonia-Cystinuria Syndrome	Seizure, Nephrolithiasis, Failure to thrive, Cystine crystalluria, Cystinuria	OMIM:606407
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Seizure, Medium chain dicarboxylic aciduria, Elevated urinary 7-hydroxyoctanoic ...	OMIM:201450
Dpm1-Cdg	Generalized myoclonic seizure, Seizure, Spasticity, Failure to thrive, Early onset absence seizur...	ORPHA:79322
Kleefstra Syndrome Due To 9Q34 Microdeletion	Generalized non-motor (absence) seizure, Epileptic spasm, Hypoplasia of penis, Seizure, Vesicoure...	ORPHA:96147
Sandhoff Disease, Infantile Form	Seizure, Spasticity, Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seiz...	ORPHA:309155
Developmental And Epileptic Encephalopathy 100	Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Chorea, Seizure, Infa...	OMIM:619777
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Akinesia, Resting tremor, Gliosis, Parkinsonism with favorable response to dopamine...	ORPHA:411602
Dystonia 26, Myoclonic	Blepharospasm, Torticollis, Myoclonus	OMIM:616398
Severe X-Linked Intellectual Disability, Gustavson Type	Hypertonia, Seizure, Spasticity, Vesicoureteral reflux, Myoclonus, Small for gestational age	ORPHA:3078
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	EEG abnormality, Aminoaciduria	OMIM:273400
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Hypsarrhythmia, Spasticity, Seizure, Vocal cord paralysis, Neurogenic bladder, M...	ORPHA:500144
Familial Expansile Osteolysis	Hydroxyprolinuria	OMIM:174810
Early-Onset Autosomal Dominant Alzheimer Disease	Hypertonia, Apraxia, Oculomotor apraxia, Seizure, Ataxia, Parkinsonism, Myoclonus	ORPHA:1020
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Inability to walk, Polycystic kidney dysplasia, Seizure, Gliosis, Ethylmalonic...	ORPHA:26791
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Generalized non-motor (absence) seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizu...	OMIM:614207
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Pontocerebellar Hypoplasia, Type 7	Hypertonia, Oculomotor apraxia, Tongue fasciculations, Spasticity, Seizure, Spastic paraplegia, A...	OMIM:614969
3P25.3 Microdeletion Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c...	ORPHA:435638
Developmental And Epileptic Encephalopathy 101	Seizure, Opisthotonus, Myoclonus	OMIM:619814
Argininosuccinic Aciduria	Oroticaciduria, Seizure, Failure to thrive, Ataxia, Aminoaciduria	OMIM:207900
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Seizure, Methylmalonic aciduria, Spastic ataxia, Homocystinuria	OMIM:277410
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Renal phosphate wasting, Seizure, Proximal tubulopathy, Microsc...	ORPHA:411634
Unilateral Polymicrogyria	Focal-onset seizure, Generalized tonic seizure, Poor fine motor coordination, Seizure, Infantile ...	ORPHA:268943
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Abnormality of the kidney, Seizure, Gliosis, Vesicoureteral reflux, Fa...	ORPHA:261652
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Generalized non-motor (absence) seizure, Hypospadias, Lower limb spasticity	ORPHA:363686
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Babinski sign, Truncal ataxia, Gliosis, Spasticity, Seizure, Lower limb hypertonia, Ataxia, Myocl...	OMIM:301072
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hypernatriuria, Generalized-onset seizure, Hyposthenuria	OMIM:300539
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Aminoaci...	OMIM:616026
Combined Oxidative Phosphorylation Deficiency 57	Seizure, Neonatal death, Small for gestational age, Myoclonus	OMIM:620167
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Abnormality of extrapyramidal motor function, Spasticity, Seizure, Ataxia, Myoclonus	OMIM:614299
Early-Onset Lafora Body Disease	Seizure, Spastic tetraparesis, Ataxia, Myoclonus	ORPHA:324290
Argininemia	Spastic gait, Oroticaciduria, Seizure, Frequent falls, Spastic paraparesis, Progressive spastic q...	OMIM:207800
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Torticollis, Head tremor, Limb tremor, Unsteady gait, Myoclonus	ORPHA:420492
X-Linked Cerebral Adrenoleukodystrophy	Hoffmann sign, Difficulty walking, Inability to walk, Oculomotor apraxia, Lower limb spasticity, ...	ORPHA:139396
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl...	ORPHA:369837
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Spasticity, Tr...	OMIM:612953
3-Methylglutaconic Aciduria, Type Viib	3-Methylglutaconic aciduria, Hyperkinetic movements, Spasticity, Tremor, Seizure, Ataxia, Opistho...	OMIM:616271
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Seizure, Focal tonic seiz...	ORPHA:314655
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Dystonia-Aphonia Syndrome	Seizure, Gait disturbance, Unsteady gait, Myoclonus, Abnormal urinary odor	ORPHA:412217
Progressive Supranuclear Palsy	Bradykinesia, Falls, Gliosis, Tremor, Blepharospasm, Rigidity, Unsteady gait	ORPHA:683
Pick Disease Of Brain	Gliosis	OMIM:172700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Generalized non-motor (absence) seizure, Focal-onset seizure, Inability to walk, Astrocytosis, Se...	ORPHA:258
Pitt-Hopkins-Like Syndrome 1	Spasticity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with f...	OMIM:610042
Netherton Syndrome	Seizure, Hydronephrosis, Aminoaciduria, Ectopic kidney	ORPHA:634
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Babinski sign, Broad-based gait, Impaired distal proprioception, Positive Romberg sign, Seizure, ...	OMIM:607459
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Generalized non-motor (absence) seizure, Epileptic spasm, Hypertonia, Focal-onset seizure, Gliosi...	OMIM:620455
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot...	ORPHA:18
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Seizure, Obesity, Macroscopic hematuria, Pain insensitivity, Myoclonus, Membrano...	ORPHA:251004
Neuroblastoma	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinary ho...	ORPHA:635
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Propionic Acidemia	Increased level of hippuric acid in urine, Limb hypertonia, Hyperglycinuria, Seizure, Failure to ...	OMIM:606054
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Seizure, Nephrocalcinosis, Ataxia, Aminoaciduria	OMIM:616084
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Hyperkinetic movements, Urinary incontinence, Interictal epileptiform activity, Truncal ataxia, L...	OMIM:300243
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Interictal epileptiform activi...	ORPHA:79139
Cerebrotendinous Xanthomatosis	Babinski sign, Decreased nerve conduction velocity, Palatal tremor, Resting tremor, Abnormality o...	ORPHA:909
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s...	OMIM:301091
Leber Congenital Amaurosis 1	Hyperthreoninuria	OMIM:204000
3-Hydroxy-3-Methylglutaric Aciduria	Spastic hemiparesis, Hypsarrhythmia, Spasticity, Seizure, 3-Methylglutaric aciduria, Ataxia, Weig...	ORPHA:20
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Beta-alaninuria, Elevated urinary 3-hydroxyisobutyric acid...	OMIM:614105
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular acidosis, Failure to thrive, Nephrocalcinosis, Renal tubular atrophy, Reduced renal...	OMIM:208085
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Brain-Lung-Thyroid Syndrome	Hypospadias, Apraxia, Falls, Chorea, Incoordination, Vesicoureteral reflux, Intention tremor, Inv...	ORPHA:209905
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired distal proprioception, Positive Romberg sign, Seizure, Gait ataxia, Myoclonus, Impaired ...	ORPHA:70595
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Seizure, Aminoaciduria, Polycystic kidney dysplasia	OMIM:214110
Hyperekplexia 2	Hypertonia, Exaggerated startle response, Myoclonus	OMIM:614619
Mitochondrial Complex I Deficiency, Nuclear Type 2	Difficulty walking, Falls, Gliosis, Seizure, Ankle clonus	OMIM:618222
Intellectual Developmental Disorder, Autosomal Dominant 22	Generalized non-motor (absence) seizure, Seizure, Fetal pyelectasis	OMIM:612337
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Myoclonus	ORPHA:168593
Kinsship Syndrome	Generalized non-motor (absence) seizure, Focal-onset seizure, Spastic tetraparesis, Bilateral ton...	OMIM:619297
Hyperphosphatasia-Intellectual Disability Syndrome	EEG with spike-wave complexes, Oculomotor apraxia, EEG with polyspike wave complexes, Seizure, Ga...	ORPHA:247262
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathioninuria, Abno...	OMIM:277400
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Paresthesia, Myoclonic spasms	ORPHA:94090
Tyrosinemia, Type Ii	Elevated urine N-acetyltyrosine level, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia	OMIM:276600
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Seizure, Gait ataxia, Hemiplegia/hemiparesis, Parkinsonism, Abnorm...	ORPHA:217260
East Syndrome	Renal salt wasting, Difficulty walking, Inability to walk, Seizure, Generalized-onset seizure, En...	ORPHA:199343
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypertonia, Focal-onset seizure, Ankle clonus, Hypsarrhythmia, Multifocal seizures, Seizure, Infa...	OMIM:620423
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R...	ORPHA:3337
Weaver Syndrome	Generalized non-motor (absence) seizure, Hypertonia, Spasticity, Poor fine motor coordination, Se...	OMIM:277590
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Difficulty walking, Failure to thrive, Generalized aminoaciduria	OMIM:264700
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Failure to thrive, Hyperphosph...	ORPHA:2088
Melas	Focal-onset seizure, Seizure, Proximal tubulopathy, Gait disturbance, Bilateral tonic-clonic seiz...	ORPHA:550
Aromatic L-Amino Acid Decarboxylase Deficiency	Babinski sign, Torticollis, Limb hypertonia, Athetosis, Blepharospasm, Exaggerated startle respon...	OMIM:608643
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Failure to thrive, Seizure, Methioninuria, Homocystinuria	OMIM:236200
Congenital Sialidosis Type 2	Abnormality of the kidney, Seizure, Spasticity, Ataxia, Myoclonus, Dysmetria	ORPHA:93400
Serotonin Syndrome	Acute kidney injury, Hypertonia, Seizure, Tremor, Clonus, Rigidity, Myoclonus	ORPHA:43116
Neuroferritinopathy	Bradykinesia, Babinski sign, Difficulty walking, Resting tremor, Chorea, Blepharospasm, Involunta...	ORPHA:157846
Hereditary Orotic Aciduria	Orotic acid crystalluria, Oroticaciduria, Aminoaciduria, Abnormality of the ureter	ORPHA:30
Immunodeficiency 23	Cortical myoclonus, Failure to thrive, Ataxia, Myoclonus, Membranoproliferative glomerulonephriti...	OMIM:615816
Stiff-Person Syndrome	Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Opisthotonus	OMIM:184850
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Hyperkinetic movements, EEG with focal sharp waves, ...	OMIM:617302
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Seizure, Myoclonus	OMIM:614462
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypertonia, Typical absence seizure, Generalized myoclonic seizure, Hypospadias, Unilateral renal...	ORPHA:268261
Fumarase Deficiency	Bilateral fetal pyelectasis, Failure to thrive, Elevated urine fumaric acid level, Increased urin...	OMIM:606812
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Renal tubular dysfunction, Hypercalciuria, Beta 2-microglobulinuria, F...	OMIM:227810
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Difficulty walking, Hyperkinetic movements, Chorea, Seizure, Truncal ataxia	ORPHA:369847
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Generalized non-motor (absence) seizure, Pelvic kidney, Seizure, Dilatation of renal calices, Bil...	ORPHA:466943
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Generalized non-motor (absence) seizure, Seizure	OMIM:617360
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Seizure, Intention ...	OMIM:208900
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Seizure, Frequent falls, Failure to thrive, Renal cortical microcysts, Hydronephrosi...	OMIM:214100
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Ataxia, Parkinsonism	OMIM:619738
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Inability to walk, Seizure, Spasticity, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis...	OMIM:617913
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Seizure, Gliosis, Bilateral tonic-clonic seizure, Renal cyst...	OMIM:261515
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor...	ORPHA:199351
Cockayne Syndrome	Urinary incontinence, Cachexia, Action tremor, Ataxia, Hypertonia, Decreased nerve conduction vel...	ORPHA:191
Hsd10 Disease, Infantile Type	Hyperkinetic movements, Seizure, Spastic tetraparesis, Loss of ambulation, Poor coordination, Cho...	ORPHA:391428
Mannosidosis, Alpha B, Lysosomal	Limb ataxia, Babinski sign, Gliosis, Spasticity, Gait ataxia, Abnormal pyramidal sign	OMIM:248500
Hyperparathyroidism, Neonatal Severe	Polyuria, Hypercalciuria, Failure to thrive, Hyperphosphaturia, Aminoaciduria	OMIM:239200
Orofaciodigital Syndrome Type 3	Focal seizure with eyelid myoclonia, Oculomotor apraxia, Spasticity, Myoclonus, Stage 5 chronic k...	ORPHA:2752
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninuria, Incoordination, Failure to thrive, Methylmalonic aciduria, Smal...	OMIM:277380
Glucocorticoid Deficiency 2	Focal motor seizure, Myoclonic seizure, Spastic tetraparesis, Myoclonus	OMIM:607398
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cogwheel rigidity, Rigidity, Pa...	OMIM:613135
Leukodystrophy, Hypomyelinating, 10	Babinski sign, Hyperkinetic movements, Inability to walk, Seizure, Spasticity, Failure to thrive	OMIM:616420
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis, Parkinsonism	OMIM:606688
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Focal-onset seizure, Inability to walk, Limb hypertonia, Hypsarrhythmia, Gliosis, Spasticity, Spa...	OMIM:620371
Wilson Disease	Decreased nerve conduction velocity, Increased urinary copper concentration, Renal tubular dysfun...	OMIM:277900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	3-Methylglutaconic aciduria, Hypertonia, Hyperkinetic movements, Methylmalonic aciduria, Hypospad...	ORPHA:17
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Bi...	ORPHA:47159
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypertonia, Seizure, Spasticity, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Myocl...	OMIM:618426
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Methylmalonic aciduria, Homocystinuria	OMIM:614857
Supranuclear Palsy, Progressive, 1	Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Falls, Astrocytosis, Gliosis, Tremor, Rigidi...	OMIM:601104
Histidinemia	Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria	OMIM:235800
Whipple Disease	Cachexia, Seizure, Ataxia, Myoclonus, Abnormal pyramidal sign	ORPHA:3452
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Basal ganglia gliosis, Gliosis	OMIM:604377
Xeroderma Pigmentosum	Abnormality of extrapyramidal motor function, Spasticity, Seizure, Failure to thrive, Ataxia, EEG...	ORPHA:910
Supranuclear Palsy, Progressive, 2	Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Falls, Gliosis, Rigidity, Parkinsonism, Eyel...	OMIM:609454
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal Fanconi...	ORPHA:411629
Fructose Intolerance, Hereditary	Bicarbonaturia, Transient aminoaciduria, Seizure, Proximal tubulopathy, Failure to thrive, Hyperp...	OMIM:229600
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Calcium nephrolithiasis, Paresthesia, Myoclonic spasms	ORPHA:36913
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Distal sensory impairment, Torticollis, Spasticity, Seizure,...	OMIM:609136
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Generalized myoclonic seizure, Bilateral fetal pyelectasis, Lower limb...	OMIM:300868
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hypertonia, Urinary incontinence, Lower limb spasticity, Hypsarrhythmia, Infantile spasms, Bilate...	ORPHA:447997
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Failure to thrive, Seizure, Generalized aminoaciduria	OMIM:251880
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Hyperprostaglandinuria, Hypercalciuria, Abnormal renal tubular resorption...	ORPHA:73224
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Truncal ataxia, Gliosis, Tremor, Spasticity, Seizure, Generalized-onset seizure, Fai...	OMIM:220111
Bruck Syndrome 2	Hydroxyprolinuria	OMIM:609220
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Difficulty walking, Hyperkinetic movements, Inability to walk, Chorea, Truncal ataxia, Tremor, At...	OMIM:615356
Paget Disease Of Bone 2, Early-Onset	Tetraparesis, Hydroxyprolinuria, Paraparesis	OMIM:602080
Pseudohypoparathyroidism Type 1B	Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Paresthesia, Myoclo...	ORPHA:94089
Ethylene Glycol Poisoning	Renal tubular epithelial necrosis, Hematuria, Renal tubular dysfunction, Seizure, Ataxia, Myoclon...	ORPHA:31826
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Difficulty walking, Urinary incontinence, Blepharospasm,...	ORPHA:306674
Niemann-Pick Disease Type C	Focal-onset seizure, Lower limb spasticity, Chorea, Seizure, Tremor, Cataplexy, Upper motor neuro...	ORPHA:646
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Simple febrile seizure, Pelvic kidney, Dilatation of renal calices, Bila...	ORPHA:466950
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Difficulty walking, Failure to thrive, Generalized aminoaciduria	ORPHA:289157
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Farber Disease	Seizure, Spasticity, Infantile spasms, Paraparesis, Failure to thrive, Myoclonus	ORPHA:333
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Broad-based gait, Seizure, Bilateral tonic-clonic seizur...	ORPHA:513456
Cystinosis, Nephropathic	Low-molecular-weight proteinuria, Polyuria, Hematuria, Generalized aminoaciduria, Medullary nephr...	OMIM:219800
Developmental And Epileptic Encephalopathy 89	Epileptic spasm, Hypertonia, Hyperkinetic movements, Hypsarrhythmia, Bilateral tonic-clonic seizu...	OMIM:619124
Pgm3-Cdg	Cortical myoclonus, Seizure, Failure to thrive, Ataxia, Myoclonus, Membranoproliferative glomerul...	ORPHA:443811
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Inability to walk, Seizur...	OMIM:617799
Episodic Ataxia Type 7	Hyperkinetic movements, Episodic ataxia	ORPHA:209970
Histidinemia	Hyperhistidinemia, Histidinuria	ORPHA:2157
Nmda Receptor Encephalitis	Focal-onset seizure, EEG with temporal sharp slow waves, Chorea, Seizure, Generalized-onset seizu...	ORPHA:217253
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Gliosis, Parkinsonism, Apraxia	OMIM:607485
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria	OMIM:603471
Paget Disease Of Bone 5, Juvenile-Onset	Hypercalciuria, Failure to thrive, Increased urine deoxypyridinoline level, Hydroxyprolinuria	OMIM:239000
Scorpion Envenomation	Acute kidney injury, Hyperkinetic movements, Seizure, Tremor, Hemifacial spasm, Glycosuria, Ataxi...	ORPHA:466677
Lysinuric Protein Intolerance	Oroticaciduria, Failure to thrive, Hyperlysinuria, Stage 5 chronic kidney disease, Truncal obesit...	OMIM:222700
Helsmoortel-Van Der Aa Syndrome	Typical absence seizure, Enlarged kidney, Recurrent urinary tract infections, Seizure, Gliosis, E...	OMIM:615873
Lathosterolosis	Hypoplasia of penis, Seizure, Failure to thrive, Myoclonus, Horseshoe kidney	ORPHA:46059
X-Linked Intellectual Disability, Snyder Type	Generalized myoclonic seizure, Inability to walk, Ectopic kidney, Hypospadias, Focal motor seizur...	ORPHA:3063
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Generalized non-motor (absence) seizure, Failure to thrive	ORPHA:293978
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Seizure, Failure to thrive, Hyperphosphaturia, ...	OMIM:309000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Generalized non-motor (absence) seizure, Epileptic spasm, Hypertonia, Abnormality of the kidney, ...	ORPHA:2636
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Myoclonic seizure, Hyperkinetic movements, Gait disturbance	OMIM:620469
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Typical absence seizure, Seizure	OMIM:618343
X-Linked Intellectual Disability, Armfield Type	Seizure, Organic aciduria, Aminoaciduria, Galactosuria	ORPHA:85276
9P13 Microdeletion Syndrome	Hand tremor, Myoclonus	ORPHA:324313
Oculocerebrorenal Syndrome Of Lowe	Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercalciuria, Seizure, Nephrolithi...	ORPHA:534
Interstitial Lung And Liver Disease	Failure to thrive, Aminoaciduria	OMIM:615486
Opsoclonus-Myoclonus Syndrome	Limb myoclonus, Rigidity, Ataxia, Myoclonus	ORPHA:1183
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Autosomal Dominant Hypocalcemia	Cortical myoclonus, Hypercalciuria, Hypermagnesiuria, Nephrocalcinosis, Paresthesia	ORPHA:428
Cutis Laxa, Autosomal Recessive, Type Iid	Seizure, Failure to thrive, Gliosis, Micropenis	OMIM:617403
Oromandibular Dystonia	Hyperkinetic movements, Blepharospasm, Torticollis, Weight loss	ORPHA:93958
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Typical absence seizure, Inability to walk, Impaired pain sensation, Seizure, Vesicoureteral refl...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Typical absence seizure, Inability to walk, Impaired pain sensation, Seizure, Vesicoureteral refl...	ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Generalized non-motor (absence) seizure, Broad-based gait, Bilateral tonic-clonic seizure, Myoclo...	OMIM:620330
Joubert Syndrome 1	Oculomotor apraxia, Hemifacial spasm, Renal cyst, Ataxia, Nephropathy	OMIM:213300
Listeriosis	Acute kidney injury, Pyelonephritis, Seizure, Tremor, Hemiparesis, Ataxia, Myoclonus, Somatic sen...	ORPHA:533
Kanzaki Disease	Distal sensory impairment, Aminoaciduria, Increased urinary O-linked sialopeptides	OMIM:609242
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Generalized non-motor (absence) seizure, Seizure, Tremor, Bilateral tonic-clonic seizure, Failure...	OMIM:612474
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edema, Decreas...	ORPHA:91500
Sotos Syndrome	Generalized non-motor (absence) seizure, Abnormality of the kidney, Generalized myoclonic seizure...	ORPHA:821
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Typical absence seizure, Focal-onset seizure, Recurrent urinary tract infections, Failure to thri...	OMIM:617157
Diets-Jongmans Syndrome	Seizure, Gliosis, Hypospadias	OMIM:618846
Pseudohypoparathyroidism Type 1A	Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Involuntary movemen...	ORPHA:79443
Pseudohypoparathyroidism Type 1C	Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Myoclonic spasms, O...	ORPHA:79444
Gabriele-De Vries Syndrome	Gliosis, Tremor, Waddling gait, Hydronephrosis, Ureteropelvic junction obstruction, Small for ges...	ORPHA:506358
Lysinuric Protein Intolerance	Abnormal renal tubule morphology, Argininuria, Oroticaciduria, Decreased glomerular filtration ra...	ORPHA:470
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Generalized non-motor (absence) seizure, Unilateral renal agenesis, Spasticity, Generalized-onset...	ORPHA:500150
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Seizure, Failure to thrive, Tetraplegia, Myoclonus	OMIM:618278
Pontocerebellar Hypoplasia Type 7	Hypertonia, Fasciculations, Spasticity, Seizure, Involuntary movements, Microphallus, Absent peni...	ORPHA:284339
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Hyperkinetic movements, EEG with spike-wave complexes, Athetoid cerebral palsy, Ch...	ORPHA:522077
Sialuria	Seizure, Hyperkinetic movements	ORPHA:3166
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Epileptic spasm, Inability to walk, Broad-based gait, Seizure, Vesicoureteral reflux, Nephrolithi...	ORPHA:438213
Meningioma	Difficulty walking, Focal-onset seizure, Urinary incontinence, Seizure, Hemifacial spasm, Hemipar...	ORPHA:2495
Choreoacanthocytosis	Bradykinesia, Hypertonia, Hyperkinetic movements, Falls, Resting tremor, Chorea, Seizure, Blephar...	ORPHA:2388
Poliomyelitis	Hyperkinetic movements, Inability to walk, Fasciculations, Paraparesis, Abnormal motor nerve cond...	ORPHA:2912
Carpenter Syndrome 2	Generalized non-motor (absence) seizure, Obesity, Micropenis	OMIM:614976
Alkaptonuria	Elevated urinary homogentisic acid, Aminoaciduria, Dark urine, Nephrolithiasis	ORPHA:56
Mowat-Wilson Syndrome	Focal-onset seizure, Urinary incontinence, Atypical absence seizure, Ataxia, Abnormality of the k...	ORPHA:2152
Doors Syndrome	Bilateral tonic-clonic seizure, Hydronephrosis, Nephrocalcinosis, Increased urine alpha-ketogluta...	ORPHA:79500
Chronic Visceral Acid Sphingomyelinase Deficiency	Generalized non-motor (absence) seizure, Ataxia, Apraxia	ORPHA:77293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Seizure, Spasticity, Myoclonus, EEG abnormality, Enlarged flash visual evoked potentials	OMIM:253280
Tick-Borne Encephalitis	Hyperkinetic movements, Focal-onset seizure, Tongue fasciculations, Incoordination, Tremor, Gener...	ORPHA:297
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Focal-onset seizure, Urinary incontinence, Inability to walk, Hypospadias, Broad-based gait, Impa...	ORPHA:261537
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypertonia, Hyperkinetic movements, Severe failure to thrive, Hypospadias, Abnormal renal collect...	ORPHA:468631
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Focal-onset seizure, Urinary incontinence, Atypical absence seizure, Duplication of renal pelvis,...	ORPHA:261552
Acrofacial Dysostosis, Cincinnati Type	Lower limb spasticity, Seizure, Infantile spasms, Vocal cord paralysis, Decreased body weight, Fa...	OMIM:616462
Liver Disease, Severe Congenital	Hypospadias, Recurrent urinary tract infections, Poor fine motor coordination, Alpha-aminobutyric...	OMIM:619991
Aspartylglucosaminuria	Seizure, Spasticity, Aspartylglucosaminuria	OMIM:208400
Traboulsi Syndrome	Homocystinuria	OMIM:601552
Aspartylglucosaminuria	Seizure, Aspartylglucosaminuria	ORPHA:93
Alström Syndrome	Detrusor sphincter dyssynergia, Typical absence seizure, Urinary incontinence, Incoordination, Po...	ORPHA:64

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 Aldh5a1

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 Aldh5a1.

No publications found that use IMPC mice or data for Aldh5a1.

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
Aldh5a1^{tm447485(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Aldh5a1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Aldh5a1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Aldh5a1^{tm1(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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