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Gene: Aldh5a1 MGI:2441982

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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
Elevated urinary 4-hydroxybutyric acid, Bilateral tonic-clonic seizure, Ataxia, Increased level o... OMIM:271980
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Continuous Spikes And Waves During Sleep
Speech apraxia, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic... ORPHA:725
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... OMIM:607682
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ... OMIM:615400
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... OMIM:618587
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... ORPHA:139431
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Bilateral tonic-clonic seizure, Ataxia, Increased level o... OMIM:271980
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... OMIM:254800
Carnosinase Deficiency
Generalized myoclonic seizure, EEG abnormality, Carnosinuria ORPHA:1361
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Diaminopentanuria
Ataxia, Cystinuria, Seizure, Hyperlysinuria, Spasticity OMIM:222350
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... OMIM:613855
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... OMIM:613608
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, EEG with frontal foca... ORPHA:98818
Hyperprolinemia, Type I
Ataxia, Hyperglycinuria, Seizure, EEG abnormality, Status epilepticus, Prolinuria, Hydroxyprolinuria OMIM:239500
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... OMIM:615369
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, Generalized non-m... OMIM:617665
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Falls, Myoclonus, Atypical ... ORPHA:2382
Saccharopinuria
Citrullinuria, Histidinuria, Saccharopinuria, Spastic diplegia, EEG abnormality, Hyperlysinuria OMIM:268700
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... ORPHA:308
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) seizure, E... OMIM:609446
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epileptiform discharges, Myo... OMIM:616187
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Seizure, Hyperglycinuria, Prolinuria OMIM:239510
Hyper-Beta-Alaninemia
Seizure, Failure to thrive, Increased urinary taurine OMIM:237400
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... OMIM:617391
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, EEG... ORPHA:86909
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Juvenile Myoclonic Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... ORPHA:307
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... OMIM:616409
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim... ORPHA:95434
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Incoordination, Seizure, Paresthesia, Gait disturbance, Homocystinuria OMIM:236250
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Threoninemia
Seizure, Hyperthreoninuria OMIM:273770
Infantile Spasms Syndrome
Myoclonus, Infantile spasms, Hypsarrhythmia ORPHA:3451
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... OMIM:616421
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atyp... OMIM:617113
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Focal-onset seizure, Hand tremor, EEG abnormality, Myoclonus ORPHA:86814
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Hydroxylysinuria
Generalized myoclonic seizure, Hyperlysinuria OMIM:236900
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, ... OMIM:616230
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Carnosinemia
Generalized myoclonic seizure, Carnosinuria OMIM:212200
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Seizure, EEG abnormality, Myoclonus, Loss of ambulation OMIM:600143
Hemimegalencephaly
EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, EEG with burst su... ORPHA:99802
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Hyperprolinemia Type 1
Seizure, Nephropathy, Proteinuria, Prolinuria ORPHA:419
Hartnup Disorder
Generalized tonic seizure, Seizure, Hypertonia, Episodic ataxia, Neutral hyperaminoaciduria OMIM:234500
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure, Aminoaciduria ORPHA:79156
Argininemia
Hemiplegia/hemiparesis, Seizure, Diaminoaciduria, Progressive spastic quadriplegia, EEG abnormality ORPHA:90
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... ORPHA:33069
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... OMIM:617810
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Seizure, Myoclonus, Giant somatosensory evoked potentials, Intention tremor OMIM:618876
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei... ORPHA:98811
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... OMIM:615744
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... OMIM:162350
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... ORPHA:2590
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic... OMIM:619913
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, EEG abnormality, Generali... OMIM:617836
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Infantile spasms, Chorea, Methylmalonic aciduria, Hypsarrhythmia, Choreoathetosis, Seizure, Athet... OMIM:309541
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... OMIM:619157
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Spasticity, Li... OMIM:617350
Developmental And Epileptic Encephalopathy 14
Clonus, Focal autonomic seizure, Focal motor seizure, Tetraplegia, Status epilepticus, Gliosis, S... OMIM:614959
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my... OMIM:617771
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp... OMIM:616139
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure OMIM:611092
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... OMIM:601068
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Multifocal epileptiform discharges, Atypical absence seizure, Myocloni... OMIM:618596
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... OMIM:608105
Valinemia
Failure to thrive, Valinuria, Hyperkinetic movements OMIM:277100
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... OMIM:619000
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Parkinsonism, Urinary incontinence, Rigidity, Chorea, Dysmetria, Gait a... OMIM:607136
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Abnormal nervous system electrophysiology, Ataxia, Myoclonus OMIM:204500
L-2-Hydroxyglutaric Aciduria
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal mot... OMIM:236792
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Seizure, EEG abnormality, Myoclonus, Difficulty walking, Spasticity OMIM:617829
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... ORPHA:599373
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Myoclonic absence seizure OMIM:612621
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, Hyperkinetic movements, ... OMIM:618285
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Abnor... ORPHA:391417
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, EEG abnormality, Hemiparesis, Myoclon... OMIM:606777
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... ORPHA:263516
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Abnormal nervous system electrophysiology, D... OMIM:256731
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Abnormality of extrapyramidal motor ... OMIM:204300
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Hypsarrhythmia, Choreoathetosis, Seizure, Myoclo... OMIM:617065
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Benign Familial Neonatal Epilepsy
Focal EEG discharges with secondary generalization, Simple febrile seizure, Clonus, Focal-onset s... ORPHA:1949
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... OMIM:615362
Hereditary Geniospasm
EEG abnormality, Chin myoclonus, Intention tremor ORPHA:53372
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus OMIM:125370
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... OMIM:616981
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Dysmetria, Seizure, Aminoaciduria, Myoclonus, Truncal ataxia, Failure to... OMIM:250620
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Glutathione Synthetase Deficiency
Ataxia, Spastic tetraparesis, Seizure, Increased level of L-pyroglutamic acid in urine, Intention... OMIM:266130
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Interictal epileptiform activit... OMIM:300699
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... OMIM:301020
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile... OMIM:609056
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria, Bilateral tonic-clonic seizure OMIM:249650
Encephalopathy Due To Sulfite Oxidase Deficiency
Ataxia, Spastic tetraparesis, Hemiplegia/hemiparesis, Seizure, Aminoaciduria, Spasticity ORPHA:833
Huntington Disease
Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Gliosis OMIM:143100
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Gait ataxia, Weight loss, Seizure, Aminoaciduria, Proximal tubulopathy, Status epilepti... OMIM:612075
Developmental And Epileptic Encephalopathy 60
Epileptic spasm, Tonic seizure, EEG with burst suppression, Inability to walk, Spastic tetraplegi... OMIM:617929
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus ORPHA:36899
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, ... ORPHA:225154
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... ORPHA:1945
Glycine Encephalopathy 1
Seizure, Hyperglycinuria, Myoclonus OMIM:605899
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, EEG abnormality, Hypertonia, Status epilepti... ORPHA:71277
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G... ORPHA:485350
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Saccharopinuria
Citrullinuria, Tremor, Spastic diplegia, Gait ataxia, Cystinuria, Seizure, Distal sensory impairm... ORPHA:3124
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction ORPHA:401901
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Progressive Myoclonic Epilepsy With Dystonia
EEG with irregular generalized spike and wave complexes, Abnormal pyramidal sign, Hemiparesis, St... ORPHA:352596
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Seizure, Gliosis, EEG abnormality OMIM:613002
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn... OMIM:238970
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Generalized-onset seizure, Generalized non-mot... ORPHA:35878
Cystathioninuria
Tremor, Seizure, Nephrolithiasis, Cystathioninuria ORPHA:212
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
Speech apraxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:245570
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Ataxia, Failure to thrive in infancy, Babinski sign, Spastic dipl... OMIM:619065
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Ataxia, Eleva... OMIM:618384
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations OMIM:611721
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... ORPHA:1942
Infantile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dys... ORPHA:79263
Hyperprolinemia Type 2
Early onset absence seizures, Increased urine alpha-ketoglutarate concentration, Renal insufficie... ORPHA:79101
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness... ORPHA:157941
Pontocerebellar Hypoplasia, Type 4
Seizure, Hypertonia, Gliosis, Myoclonus, Spasticity OMIM:225753
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, EEG with burst suppression, M... ORPHA:3006
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener... OMIM:619616
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Hyperlysinemia, Type I
Seizure, Hyperlysinuria OMIM:238700
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Rigidity, Bradykinesia, Seizure, Gait disturbance, Shu... OMIM:221820
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Ataxia, EEG with burst suppression, Spastic tetraplegia, Seizure, Myoclonus, Err... OMIM:619971
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Generalized non-motor (absence) seizure, Difficulty walking, Spasticity OMIM:618242
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spas... OMIM:213200
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Homocarnosinosis
Spastic paraplegia, Carnosinuria OMIM:236130
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria ORPHA:42062
Developmental And Epileptic Encephalopathy 71
Seizure, EEG with burst suppression, Gliosis OMIM:618328
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Stimmler Syndrome
Aminoaciduria, Ataxia ORPHA:3199
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Failure to thrive ORPHA:2278
Spinocerebellar Ataxia 13
Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressi... OMIM:605259
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Hypsarrhythmia, Astrocytosis, Abnormality of extr... ORPHA:204
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa... OMIM:616281
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus OMIM:159900
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Seizure, Hypertonia, Myoclonus, Failure to thrive OMIM:610090
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Spasticity OMIM:615924
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Distal sensory impairment, Seizure, Gliosis, Abnormality of extrapyramidal motor function, Myoclonus OMIM:604218
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Urinary incontinence, Myoclonus, U... ORPHA:306511
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, ... ORPHA:168491
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus OMIM:619651
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Paroxysmal choreoathetosis, Nor... OMIM:602066
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Inability to walk, Generalized non-motor (absence) seizure, Multifocal epilepti... ORPHA:411986
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia, Decreased nerve conduction velocity, Methylmalonic aciduria, Seizure, Aminoacid... ORPHA:1933
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... OMIM:619028
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Progressive cereb... ORPHA:248111
Congenital Disorder Of Glycosylation, Type In
Ataxia, Seizure, Myoclonus, Spasticity, Failure to thrive OMIM:612015
2,4-Dienoyl-Coa Reductase Deficiency
Incoordination, Ataxia, Clonus, Tetraplegia, Choreoathetosis, Seizure, Hyperlysinuria, Spasticity... OMIM:616034
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... OMIM:617904
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Sarcosinemia
Hypersarcosinuria, Bilateral tonic-clonic seizure, Tetraparesis, Ataxia ORPHA:3129
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... ORPHA:289266
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Inability to walk, Chorea, Myoclonic seizure, Seizure, EEG abnormality, Hyperkin... OMIM:614254
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Dystonia 23
Torticollis, Gait disturbance, Myoclonus, Head tremor OMIM:614860
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Carbamoyl-Phosphate Synthetase 1 Deficiency
Seizure, Aminoaciduria ORPHA:147
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor... OMIM:618170
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Abnormal pyramida... ORPHA:101070
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, EEG w... OMIM:614498
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... OMIM:607346
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, Spastic dysarthria, EEG ab... ORPHA:313772
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Spastic tetraparesis, Focal... OMIM:605711
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Failure to thrive, Myoclonus, Dysmetria OMIM:618251
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... OMIM:619338
Tiglic Acidemia
Aminoaciduria OMIM:275190
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus OMIM:619647
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Obesity, Seizure, Hypert... OMIM:619854
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Babinski sign, Seizure, EEG abnormality, Gait disturbance, Myoclonus, Glios... OMIM:221770
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Dysdiadoch... OMIM:614487
Developmental And Epileptic Encephalopathy 1
Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset seizure, EEG with burst suppre... OMIM:308350
Thyrocerebrorenal Syndrome
Renal insufficiency, Slurred speech, Seizure, Myoclonus, Nonprogressive cerebellar ataxia, Nephritis ORPHA:3327
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a... OMIM:615859
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements OMIM:618425
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
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Complex febrile sei... ORPHA:31709
Lafora Disease
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... ORPHA:501
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f... OMIM:615338
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Bilateral tonic-clonic seizure, Ataxia, Increased urinary sulfite level, Multif... OMIM:272300
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Small for gestational age, Inability to... ORPHA:79243
Camptodactyly 1
Increased urinary taurine OMIM:114200
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... ORPHA:98820
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Seizure, EEG abnormality, Myoclonus, Spasticity OMIM:256730
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Poor coordination, Seizure, Gait disturbance, Failure to thrive, Homocystinuria OMIM:250940
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturbance, Gait imbalance... OMIM:618369
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Seizure, Truncal obesity, Hyperkine... OMIM:300957
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generalized n... ORPHA:395
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic aciduria, Seizure, Hypertonia, Hyperkinetic movements, Gait disturbance, Failure to... OMIM:236270
Galactosemia Iii
Failure to thrive, Aminoaciduria, Galactosuria OMIM:230350
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus OMIM:261630
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Difficulty walking, Generali... OMIM:159950
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Ataxia, Decreased nerve conduction velocity, Tr... ORPHA:812
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Spastic tetraplegia, Hypsarrhythmia, Opisthotonus, Seizure, Amino... OMIM:220120
Combined Oxidative Phosphorylation Deficiency 14
Myoclonic seizure, EEG abnormality, Seizure, Aminoaciduria, Gliosis, Myoclonus, Basal ganglia gli... OMIM:614946
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythm... OMIM:613722
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Myoclonus OMIM:619303
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure, Obesity OMIM:613886
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... OMIM:617290
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Seizure, EEG abnormality, Gait disturbance, Myoclonus, Apraxia OMIM:618193
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure OMIM:617080
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Absent urinary u... OMIM:252150
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park... ORPHA:314632
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Loss of ability to walk in early childhood, Small for gestational age,... OMIM:612073
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthi... OMIM:252160
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi... OMIM:204200
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Multifocal epileptiform... OMIM:271900
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Hypospadias, Tremor, Poor coordination, Gait disturbance, Eati... ORPHA:544254
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, EEG ... ORPHA:442835
Phenylketonuria
Aminoaciduria ORPHA:716
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Hyperkinetic movements, Upper limb s... ORPHA:457240
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Choreoa... ORPHA:561854
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesi... 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
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involuntary movements, T... ORPHA:454887
Atypical Rett Syndrome
Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Inability to walk, Loss... ORPHA:3095
Methionine Malabsorption Syndrome
Seizure, Aminoaciduria OMIM:250900
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Hypsarrhythmia, Opisthotonus, Seizure, Choreoathetosis, Hyperto... ORPHA:13
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria OMIM:606528
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Spasticity... OMIM:619847
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria OMIM:204750
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Urinary incontinence, Rigidi... OMIM:183090
Peho-Like Syndrome
Hypsarrhythmia, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, EEG with burst suppression, Myoclonic seizure, Seizure, Status epi... ORPHA:168486
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... OMIM:620166
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Ataxia ORPHA:33574
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Glutathionuria
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor OMIM:231950
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Generalized non-motor (absence) seizure, Spasticity, Focal impaired a... OMIM:620149
D-Glyceric Aciduria
Chorea, Hyperglycinuria, Seizure, Myoclonus, Spasticity ORPHA:941
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Hyperekplexia 4
Seizure, Hypertonia, Myoclonus, Hypsarrhythmia OMIM:618011
Thyrocerebroretinal Syndrome
Ataxia, Slurred speech, Seizure, Myoclonus, Nephritis OMIM:274240
Early Infantile Epileptic Encephalopathy
Tremor, Choreoathetosis, Ureterocele, Micropenis, EEG with burst suppression, Hypsarrhythmia, Sei... ORPHA:1934
Alexander Disease
Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor OMIM:203450
Hydroxykynureninuria
Aminoaciduria OMIM:236800
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Machado-Joseph Disease
Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi... OMIM:109150
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Urinary incontinence, Seizure, Myoclonus, Spasticity OMIM:620094
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with persistent abnormal rhythmic activit... ORPHA:282166
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Spasticity OMIM:617284
Alexander Disease Type I
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor, Failure to thrive ORPHA:363717
5-Oxoprolinase Deficiency
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis OMIM:260005
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Tremor, Ataxia, Overweight, Obesity, Hypsarrhythmia, Seizure, EEG abn... OMIM:619229
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Dermotrichic Syndrome
Seizure, Aminoaciduria, EEG abnormality ORPHA:99688
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Bilateral tonic-clonic seizure, Increased urinary taurine, Hypertonia,... OMIM:615501
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Urinary incontinence, Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus OMIM:600795
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610992
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations, Gliosis OMIM:604484
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe... ORPHA:64280
Cln5 Disease
Generalized-onset seizure, Abnormal central motor function, Ataxia, Tremor, Focal-onset seizure, ... ORPHA:228360
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... ORPHA:399
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... OMIM:616973
Lissencephaly Due To Lis1 Mutation
EEG with changes in voltage, Infantile spasms, Focal motor seizure, Tetraplegia, Hypsarrhythmia, ... ORPHA:95232
Periventricular Nodular Heterotopia 7
Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Hypsarrhythmia, Seizure, Failu... OMIM:617201
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Seizure, EEG abnormality, Myoclonus, Failure to thrive OMIM:300673
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Elevated urinary formiminoglutamic acid level OMIM:229100
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Abnormal pyramidal sign, Spastic tetr... OMIM:256600
Spastic Paraplegia 50, Autosomal Recessive
Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Seizure, Gliosis, Limb hypertonia OMIM:612936
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Inability to walk, Seizure, Athetosis, Gait disturbance, Myoclonus, Loss of ambulation OMIM:618241
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... ORPHA:275872
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Seizure, Gait disturbance, Gliosis, Spasticity OMIM:603896
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Obesity OMIM:616521
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ... OMIM:619725
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Urinary incontinence, Tremor, Rigidity, Head titubation, Inability to walk, Gait at... OMIM:618877
2P21 Microdeletion Syndrome
Seizure, Failure to thrive, Nephrolithiasis, Cystinuria ORPHA:163693
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... ORPHA:276198
Gaucher Disease, Type Iii
Ataxia, Myoclonus, Decreased body weight, Generalized myoclonic seizure, Spastic paraparesis OMIM:231000
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Gracile Syndrome
Aminoaciduria OMIM:603358
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, EEG with focal spikes, Focal cloni... ORPHA:140927
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Spastic tetraplegia, Tetraplegia, Seizure, Hypertonia, Gliosis OMIM:608033
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Clumsiness OMIM:300558
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairm... OMIM:616505
Argininosuccinic Aciduria
EEG abnormality, Aminoaciduria, Oroticaciduria, Ataxia ORPHA:23
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia ORPHA:324588
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spastic diplegi... ORPHA:401866
Schindler Disease, Type I
Seizure, Spasticity, Myoclonus, Increased urinary O-linked sialopeptides OMIM:609241
Spinocerebellar Ataxia Type 10
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Babinski sign, Unsteady gait, F... ORPHA:98761
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Urinary urgency, Gait disturbance, Myoclonu... OMIM:168601
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz... ORPHA:382
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Ataxia, Proteinuria, Spastic tetraparesis, Abnormal pyramidal sign, Renal tubu... ORPHA:436271
Ataxia-Telangiectasia-Like Disorder
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor apraxia, Freque... ORPHA:251347
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Bilateral tonic-clonic seizure, Ataxia, Hydroureter, Large for gestational age... OMIM:615398
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Hypospadias, Tonic seizure, Rigidity, Inabilit... OMIM:300260
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Small for gestational age, Myoclonus OMIM:619057
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity, Failure to thrive OMIM:618201
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Multifocal epile... OMIM:617493
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, Seizure, EEG abnormality, 3-Methylg... OMIM:246450
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Epileptic spasm, Hypsarrhythmia, Myoclonus, Decreased body weight, Failure to thrive OMIM:619060
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Leigh Syndrome
Chorea, Choreoathetosis, Complex organic aciduria, Gliosis, Ataxia, Hypsarrhythmia, Renal tubular... ORPHA:506
Combined Oxidative Phosphorylation Deficiency 52
Seizure, Aminoaciduria, Renal insufficiency, Lacticaciduria OMIM:619386
Pyridoxal Phosphate-Responsive Seizures
EEG with burst suppression, Unsteady gait, Seizure, Hypertonia, Status epilepticus, Myoclonus, Fa... ORPHA:79096
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Ataxia, Infantile spasms, Generalized non-motor (absence) seizure, Oculo... ORPHA:467166
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria OMIM:615158
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Urinary incontinence, Tremor, Cachexia, Cho... OMIM:618093
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity OMIM:618225
Harel-Yoon Syndrome
Inability to walk, Spasticity, Ataxia, Generalized non-motor (absence) seizure OMIM:617183
Leigh Syndrome
Ataxia, Seizure, Gliosis, Spasticity, Failure to thrive OMIM:256000
Posttransplant Acute Limbic Encephalitis
Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Seizure, My... ORPHA:163921
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri... OMIM:256700
Mitochondrial Dna Depletion Syndrome 19
Hypospadias, Infantile spasms, Focal-onset seizure, Multifocal epileptiform discharges, Myoclonus... OMIM:618972
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Ataxia OMIM:618729
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
EEG with polyspike wave complexes, Epileptic spasm, Failure to thrive in infancy, Spastic tetrapa... ORPHA:284417
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Hypertonia, Failure... OMIM:604273
Spinocerebellar Ataxia Type 13
Torticollis, Urinary incontinence, Impaired distal vibration sensation, Limb ataxia, Titubation, ... ORPHA:98768
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Seizure, Progressive cerebella... OMIM:616640
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Gliosis, Paralysis OMIM:300857
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... ORPHA:98810
Congenital Disorder Of Glycosylation, Type Iif
Seizure, Aminoaciduria, Ataxia, Proteinuria OMIM:603585
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Increased level of L-pyroglutamic acid in urine OMIM:231900
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep... ORPHA:363400
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive cerebell... ORPHA:101112
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Thiamine-Responsive Megaloblastic Anemia Syndrome
Seizure, Aminoaciduria, Ataxia OMIM:249270
Primary Non-Essential Cutis Verticis Gyrata
Seizure, Gliosis ORPHA:357225
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia OMIM:312170
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... OMIM:620352
Myoclonus, Intractable, Neonatal
Clonic seizure, Chorea, Athetosis, Myoclonus OMIM:617235
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Infantile spasms, Action tremor, Inability to walk, Chorea, Oculomotor... ORPHA:404454
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Clonus, Spastic tetraplegia, Seizure, Aminoaciduria, Status epilepticu... OMIM:619055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Babinski sign, Seizure, Myoclonus, Truncal ataxia, Spasticity OMIM:252011
Subependymal Nodular Heterotopia
Interictal EEG abnormality, Focal-onset seizure, EEG with temporal focal spike waves, Seizure, EE... ORPHA:101030
Hartnup Disease
Abnormal urinary color, Ataxia, Seizure, EEG abnormality, Neutral hyperaminoaciduria ORPHA:2116
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Hypertonia, Small for gestational age, Gliosis OMIM:615095
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Ataxia, Babinski sign, Gait ataxia, Seizure, Elevated urine acetoacetic acid level, Hyperkinetic ... OMIM:620089
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Parkinsonism, Paraparesis, Gliosis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia OMIM:105550
Histidinuria Due To A Renal Tubular Defect
Generalized myoclonic seizure, Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Tremor, Inability to walk, Typical absence seizure,... ORPHA:845
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor function, Myocl... OMIM:607822
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Tremor, Seizure, Myoclonus ORPHA:97229
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Focal-onset seizure, Inability to walk, Seizure, Hypertonia, Generaliz... OMIM:617188
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... OMIM:617854
Lipoyltransferase 1 Deficiency
Spastic tetraparesis, Lacticaciduria, Alaninuria, Abnormality of extrapyramidal motor function, H... OMIM:616299
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperlysinuria OMIM:238750
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... OMIM:618060
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Seizure, Aminoaciduria, Renal ... OMIM:220110
Narp Syndrome
Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Myoclonic spasms ORPHA:644
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, U... OMIM:300912
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Difficulty walking, ... ORPHA:53351
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, 3-Methylglutaconic ... OMIM:619835
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Tryptophanuria With Dwarfism
Ataxia, Gait disturbance, Tryptophanuria OMIM:276100
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Difficulty ... ORPHA:280210
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Seizure, Aminoaciduria, Failure to thrive OMIM:614520
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Myoclonic seizure, Hypertonia, Myoclonus, Hydronephrosis OMIM:618240
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Spastic... ORPHA:79351
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Gait ataxia, Abnormality of extrapyramidal motor function, Paresthesia, Limb myoclon... ORPHA:356
Hypertryptophanemia
Tryptophanuria OMIM:600627
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Pontocerebellar Hypoplasia, Type 2E
Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t... OMIM:615851
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary O-linked sialope... OMIM:256550
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Gliosis... OMIM:231680
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Lower limb spasticity, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Urinary incontine... OMIM:617193
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, Opisthotonus, Status ... OMIM:616672
Hyperlysinemia
Neck hypertonia, Failure to thrive, Poor motor coordination, Simple febrile seizure, Spastic tetr... ORPHA:2203
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Lissencephaly, X-Linked, 2
Seizure, Spasticity, Gliosis, Micropenis OMIM:300215
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Seizure, Hypertonia, Gait disturbance, Gliosis, Spasticity ORPHA:88619
Hypotonia-Cystinuria Syndrome
Failure to thrive, Nephrolithiasis, Cystinuria ORPHA:163690
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor ORPHA:420485
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination... ORPHA:79264
Parkinsonian-Pyramidal Syndrome
Neurogenic bladder, Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyr... ORPHA:171695
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, EEG abnormality, Hyperkinetic ... OMIM:618218
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Pontocerebellar Hypoplasia, Type 2A
Chorea, Opisthotonus, Seizure, Gliosis, Extrapyramidal dyskinesia OMIM:277470
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Hypsarrhythmia, Gait ataxia, Seizure, Glio... OMIM:618321
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Spastic para... OMIM:612164
Gyrate Atrophy Of Choroid And Retina
Seizure, Aminoaciduria ORPHA:414
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Generalized-onset seizure, Postural tremor, Proteinuria, Act... OMIM:254900
Galactosemia I
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine, Failure to thrive OMIM:230400
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun... ORPHA:79279
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Generalized-onset seizure, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cere... ORPHA:284289
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor, Urinary bladder... ORPHA:363722
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Neurogenic bladder, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus OMIM:619780
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Recurrent myoglobinuria, Proteinuria, Tremor, Seizure, Nephrotic syndrome, Focal segmenta... OMIM:607426
Developmental And Epileptic Encephalopathy 72
Inability to walk, Hyperkinetic movements, Infantile spasms, Hypsarrhythmia OMIM:618374
Angelman Syndrome
Broad-based gait, Ataxia, Infantile spasms, Tremor, Inability to walk, Obesity, Seizure, EEG abno... ORPHA:72
Mepan Syndrome
Ataxia, Chorea, Gait disturbance, Myoclonus, Spasticity, Failure to thrive ORPHA:508093
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Pain insensitivity, Bilateral tonic-clonic seizure, Infantile spasms, Inability to w... OMIM:620224
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... OMIM:300672
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... OMIM:117360
Microcephaly, Amish Type
Failure to thrive, Myoclonus, Limb hypertonia OMIM:607196
Cystinosis
Renal insufficiency, Proteinuria, Abnormal pyramidal sign, Renal tubular dysfunction, Aminoacidur... ORPHA:213
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Neurogenic bladder, Weakness due to upper motor neuron dysfunction, Urinar... ORPHA:466722
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Ataxia, Aciduria, Paralysis, Astrocytosis, Hypertonia, Status epile... OMIM:203700
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Myasthenic Syndrome, Congenital, 22
Waddling gait, Cystinuria OMIM:616224
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure,... ORPHA:445038
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Abnormality of the kidney, Dysmetria, Seizure, Myoclonus, Generali... ORPHA:93399
Dystonia 34, Myoclonic
Torticollis, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor OMIM:619724
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Ataxia, Lacticaciduria, Seizure, Myoclonus, Neonatal death OMIM:619167
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Cerebral palsy, Ketonuria, Hyperglycinuria, Opisthotonus, Seizure, Organic aciduria, Failure to t... OMIM:210210
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Hyperkinetic movements ORPHA:397933
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks ORPHA:2898
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... OMIM:612949
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse... OMIM:617798
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Nipah Virus Disease
Tremor, Seizure, Myoclonus ORPHA:99825
Cerebrooculofacioskeletal Syndrome 1
Seizure, Failure to thrive, Small for gestational age, Gliosis OMIM:214150
Multiple Mitochondrial Dysfunctions Syndrome 3
Seizure, Beta-aminoisobutyric aciduria, Spastic tetraplegia OMIM:615330
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Cachexia, Decreased nerve ... ORPHA:206436
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Heparan sulfate excretion in urine, Chorea, Dysmetria,... OMIM:615273
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, Obesity, Seizure, EEG abn... ORPHA:98794
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Polyuria, Proximal tubulopathy, Myoclonus, Failure to thrive OMIM:560000
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Seizure, Broad-based gait, Myoclonus OMIM:616158
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Ataxia, Lacticaciduria, Seizure, Tubulointerstitial nephritis, EEG abnormality,... OMIM:124000
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Neurogenic bladder, Hypsarrhythmia, Seizure, Myoclonus OMIM:617669
Cog8-Cdg
Seizure, Failure to thrive, Ataxia, Myoclonus ORPHA:95428
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) seizure, Hypertoni... OMIM:615802
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Spastic tetraparesis, Infantile spasms, Seizure, Myoclonus, Vesicouret... OMIM:614261
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Myoclonus, Podocyte foo... OMIM:619609
Combined Oxidative Phosphorylation Deficiency 24
Seizure, Focal segmental glomerulosclerosis, Gliosis, Status epilepticus, Spasticity OMIM:616239
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Seizure, Renal tubular acidosis, Stillbirth, M... OMIM:614922
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Bilateral tonic-clonic seizure, Babinski sign, Micropenis, Seizure, Status ep... ORPHA:364028
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasciculations, Toni... OMIM:617281
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Spastic tetraplegia, Seizure, Gliosis ORPHA:3240
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Fa... OMIM:613404
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Fatal Familial Insomnia
Urinary retention, Ataxia, Myoclonus, Weight loss OMIM:600072
Dpm1-Cdg
Early onset absence seizures, Ataxia, Seizure, Generalized myoclonic seizure, Spasticity, Failure... ORPHA:79322
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria, Seizure, Failure to thrive, Cystine crystalluria OMIM:606407
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Babinski sign, Pseudobulbar paralysis, Gliosis, Spasticity OMIM:169500
Neurodevelopmental Disorder With Spasticity And Poor Growth
Ataxia, Clonus, Infantile spasms, Babinski sign, Vesicoureteral reflux, Hypsarrhythmia, Myoclonic... OMIM:618076
Hyperekplexia 1
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures OMIM:149400
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Weight loss, Brady... ORPHA:411602
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Hypoplasia of penis, Renal insufficiency, Generalized non-motor (absence) seizur... ORPHA:96147
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Myoclonus OMIM:616398
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Seizure, Hypertonia, Myoclonus, Vesicoureteral reflux, Spasticity ORPHA:3078
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
EEG abnormality, Aminoaciduria OMIM:273400
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis ORPHA:683
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... OMIM:614207
Argininosuccinic Aciduria
Failure to thrive, Ataxia, Seizure, Aminoaciduria, Oroticaciduria OMIM:207900
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Neurogenic bladder, Vocal cord paralysis, Hypsarrhythmia, Seizure, Myoclonus, Sp... ORPHA:500144
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia ORPHA:1020
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Isovaleric Acidemia
Seizure, Hyperglycinuria OMIM:243500
Pontocerebellar Hypoplasia, Type 7
Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Micropenis, Hypertonia, Myocl... OMIM:614969
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Inability to walk, Lacticaciduria, Seizure, 3-Methylglutaric aciduria, Gliosis... ORPHA:26791
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Peho Syndrome
Seizure, Myoclonus, Hypsarrhythmia OMIM:260565
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Seizure, Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Developmental And Epileptic Encephalopathy 101
Seizure, Myoclonus, Opisthotonus OMIM:619814
Juvenile Nephropathic Cystinosis
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Elevated circulating... ORPHA:411634
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Argininemia
Oroticaciduria, Seizure, Progressive spastic quadriplegia, Diaminoaciduria, Spastic paraparesis, ... OMIM:207800
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hypernatriuria, Hyposthenuria, Generalized-onset seizure OMIM:300539
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Lower limb spasticity, Hypospadias, Generalized non-motor (absence) seizure ORPHA:363686
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Truncal obesity, Status e... OMIM:301072
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... ORPHA:268943
Adenylosuccinase Deficiency
Inability to walk, Opisthotonus, Gait ataxia, Seizure, Myoclonus, Hemiplegia, Spasticity OMIM:103050
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Seizure, Homocystinuria, Methylmalonic aciduria OMIM:277410
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Multifocal epileptiform ... ORPHA:369837
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity OMIM:614299
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Tremor, Cystathioninuria, Hemolytic-uremic syndrome, Methylmalo... OMIM:277400
Early-Onset Lafora Body Disease
Seizure, Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Seizure, Small for gestational age, Myoclonus OMIM:620167
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Large for gestational age, Nephrocalcinosis, Aminoaciduria, Glyco... OMIM:616026
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Unsteady gait, Limb tremor, Myoclonus, Head tremor, Difficulty walking ORPHA:420492
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the kidney, Large for gestational age, Seizure, Gliosis, Vesicoureteral reflux, Fa... ORPHA:261652
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,... ORPHA:139396
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, 3-Methylglutaconi... OMIM:616271
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Limb hypertonia OMIM:233910
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton... ORPHA:314655
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG abnormali... OMIM:610042
Dystonia-Aphonia Syndrome
Unsteady gait, Seizure, Abnormal urinary odor, Gait disturbance, Myoclonus ORPHA:412217
Pick Disease Of Brain
Gliosis OMIM:172700
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, Impaired d... OMIM:607459
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Seizure, Myoc... ORPHA:251004
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Ataxia, Urinary incontinence, Photosensitive tonic-clonic seizure, Loss of ability to walk in fir... OMIM:300243
Tyrosinemia, Type Iii
Hypertyrosinemia, Seizure, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:276710
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Propionic Acidemia
Increased level of hippuric acid in urine, Hyperglycinuria, Seizure, Failure to thrive, Limb hype... OMIM:606054
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Seizure, Aminoaciduria, Ataxia OMIM:616084
Netherton Syndrome
Seizure, Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Japanese Encephalitis
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Weakness due to upper ... ORPHA:79139
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Ataxia, Spastic hemiparesis, Hypsarrhythmia, Weight loss, EEG abnormality, Seizure, 3-... ORPHA:20
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular... OMIM:208085
Leber Congenital Amaurosis 1
Hyperthreoninuria OMIM:204000
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hyp... ORPHA:18
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria ORPHA:2158
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Cerebrotendinous Xanthomatosis
Resting tremor, Somatic sensory dysfunction, Ataxia, Parkinsonism, Abnormal auditory evoked poten... ORPHA:909
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Seizure, Falls, Gliosis, Difficulty walking OMIM:618222
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Brain-Lung-Thyroid Syndrome
Incoordination, Ataxia, Involuntary movements, Hypospadias, Chorea, Megacystis, Clumsiness, Chore... ORPHA:209905
Peroxisome Biogenesis Disorder 2A (Zellweger)
Seizure, Aminoaciduria, Failure to thrive, Polycystic kidney dysplasia OMIM:214110
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Fetal pyelectasis, Generalized non-motor (absence) seizure OMIM:612337
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Seizure, Positive Romb... ORPHA:70595
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Myoclonus ORPHA:168593
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Beta-alaninuria, Elevated urinary aminoisobutyric acid, M... OMIM:614105
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Astrocytosis, Se... ORPHA:258
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... OMIM:619297
Hyperphosphatasia-Intellectual Disability Syndrome
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Seizure, Gait disturba... ORPHA:247262
Wilson Disease
Hyperphosphaturia, Poor motor coordination, Proteinuria, Decreased nerve conduction velocity, Tre... OMIM:277900
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis... OMIM:608643
Melas
Abnormal central motor function, Bilateral tonic-clonic seizure, Ataxia, Proteinuria, Focal-onset... ORPHA:550
East Syndrome
Generalized-onset seizure, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk... ORPHA:199343
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Seizure, Methioninuria, Failure to thrive, Homocystinuria OMIM:236200
Congenital Sialidosis Type 2
Ataxia, Abnormality of the kidney, Dysmetria, Seizure, Myoclonus, Spasticity ORPHA:93400
Weaver Syndrome
Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin... OMIM:277590
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci... ORPHA:2088
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Difficulty walking, Failure to thrive, Generalized aminoaciduria, Hypocalcemic seizures OMIM:264700
Serotonin Syndrome
Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus, Acute kidney injury ORPHA:43116
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... ORPHA:157846
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Seizure, Progressive cerebell... OMIM:208900
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Seizure, Myoclonus OMIM:614462
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls OMIM:184850
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Uni... ORPHA:268261
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Dilatation of renal calices, Poor coordination, Generalized non-m... ORPHA:466943
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Immunodeficiency 23
Somatic sensory dysfunction, Membranoproliferative glomerulonephritis, Ataxia, Myoclonus, Failure... OMIM:615816
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Failure to thrive OMIM:239200
Optic Atrophy 11
Ataxia, Gait apraxia, EEG with focal sharp waves, Dysmetria, Seizure, Athetosis, Hyperkinetic mov... OMIM:617302
Peroxisome Biogenesis Disorder 1A (Zellweger)
Failure to thrive, Hypospadias, Unsteady gait, Seizure, Aminoaciduria, Albuminuria, Loss of ambul... OMIM:214100
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia ORPHA:369847
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Action tremor OMIM:619738
Fumarase Deficiency
Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ... OMIM:606812
Mannosidosis, Alpha B, Lysosomal
Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Gliosis, Spasticity OMIM:248500
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Renal hypoplasia, Nephrocalcinosis, Seizure, Aminoaciduria, Renal artery steno... OMIM:617913
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Renal cyst, Seizure, Gliosis... OMIM:261515
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Incoordination, Small for gestational age, Cystathioninuria, Methylmalonic aciduria, Failure to t... OMIM:277380
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure, Hyperkinetic... ORPHA:391428
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Paresthesia, Low urinary cyclic AMP response to PTH administration, Myoclo... ORPHA:94090
Cockayne Syndrome
Urinary incontinence, Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Ataxia, Ren... ORPHA:191
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis, Parkinsonism OMIM:606688
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Babinski sign, Seizure, Hyperkinetic movements, Spasticity, Failure to thrive OMIM:616420
Orofaciodigital Syndrome Type 3
Focal seizure with eyelid myoclonia, Stage 5 chronic kidney disease, Myoclonus, Oculomotor apraxi... ORPHA:2752
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypospadias, Unsteady gait, Methylmalonic aciduria, Choreoathetosis, Seizure, Hypertonia, Hyperki... ORPHA:17
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Bilateral tonic-clonic seizure, Ataxia, Seizure, Hypertonia, Myoclonus, Spasticity, Failure to th... OMIM:618426
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Basal ganglia gliosis, Gliosis OMIM:604377
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykinesia, Falls, Gait... OMIM:601104
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Homocystinuria, Methylmalonic aciduria OMIM:614857
Whipple Disease
Ataxia, Cachexia, Abnormal pyramidal sign, Seizure, Myoclonus ORPHA:3452
Xeroderma Pigmentosum
Ataxia, Seizure, EEG abnormality, Aminoaciduria, Abnormality of extrapyramidal motor function, Sp... ORPHA:910
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Falls, Gait imba... OMIM:609454
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Hypocalcemic Vitamin D-Dependent Rickets
Difficulty walking, Failure to thrive, Generalized aminoaciduria, Hypocalcemic seizures ORPHA:289157
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Microtriplication 11Q24.1
Speech apraxia, Seizure, Hyperkinetic movements, Obesity ORPHA:289522
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Seizure, Failure to thrive, Generalized aminoaciduria OMIM:251880
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Myoclonic spasms, Paresthesia, Hypocalcemic seizures ORPHA:36913
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Lower limb spasticity, Bilateral fetal pyelectasis, Large for gesta... OMIM:300868
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagla... ORPHA:73224
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Decreased nerve conduction velocity, Sp... OMIM:609136
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Ataxia, Ketonuria, Hypospadias, Small for gestational age, Tremor, Dys... OMIM:220111
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Paraparesis, Tetraparesis OMIM:602080
Ethylene Glycol Poisoning
Renal insufficiency, Ataxia, Slurred speech, Renal tubular epithelial necrosis, Renal tubular dys... ORPHA:31826
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Urinary incontin... ORPHA:447997
Bruck Syndrome 2
Hydroxyprolinuria OMIM:609220
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Waddling gait, Ataxia, Tremor, Inability to walk, Chorea, Seizure, EEG abnormalit... OMIM:615356
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a... ORPHA:513456
Niemann-Pick Disease Type C
Speech apraxia, Lower limb spasticity, Generalized-onset seizure, Ataxia, Tremor, Focal-onset sei... ORPHA:646
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Typical absence seizure, Obesity, Truncal... ORPHA:466950
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Urinary incontinence, Rigidity, Babinski sign, Abnormal pyramidal s... ORPHA:306674
Farber Disease
Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity, Failure to thrive ORPHA:333
Developmental And Epileptic Encephalopathy 89
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, EEG with burst suppressio... OMIM:619124
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Small for gestational age, Inabili... OMIM:617799
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Nmda Receptor Encephalitis
Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset seizure, EEG with tempora... ORPHA:217253
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Ataxia, Seizure, Myoclonus, Failure to thrive, Cortical... ORPHA:443811
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Failure to thrive in infancy, Stag... OMIM:219800
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis, Parkinsonism, Apraxia OMIM:607485
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria OMIM:603471
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Failure to thrive, Hypercalciuria, Increased urine deoxypyridinoline level OMIM:239000
Lysinuric Protein Intolerance
Oroticaciduria, Stage 5 chronic kidney disease, Truncal obesity, Aminoaciduria, Hyperlysinuria, F... OMIM:222700
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Involuntary movements, Ectopic kidney, Inability to walk, Unsteady gait, Focal motor... ORPHA:3063
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Tonic seizure, Typical absence seizure, Obesity, Enuresis noc... OMIM:615873
Lathosterolosis
Hypoplasia of penis, Horseshoe kidney, Seizure, Myoclonus, Failure to thrive ORPHA:46059
Scorpion Envenomation
Hemifacial spasm, Ketonuria, Ataxia, Tremor, Seizure, Hyperkinetic movements, Paresthesia, Myoclo... ORPHA:466677
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, ... ORPHA:2636
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure OMIM:618343
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
9P13 Microdeletion Syndrome
Myoclonus, Hand tremor ORPHA:324313
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Generalized non-motor (absence) seizure ORPHA:293978
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Clonus, Proximal renal tubular acidosis, Nephro... ORPHA:534
X-Linked Intellectual Disability, Armfield Type
Seizure, Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Opsoclonus-Myoclonus Syndrome
Rigidity, Limb myoclonus, Ataxia, Myoclonus ORPHA:1183
Interstitial Lung And Liver Disease
Aminoaciduria, Failure to thrive OMIM:615486
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Paresthesia, Hypermagnesiuria, Cortical myoclonus ORPHA:428
Cutis Laxa, Autosomal Recessive, Type Iid
Seizure, Micropenis, Failure to thrive, Gliosis OMIM:617403
Oromandibular Dystonia
Blepharospasm, Torticollis, Hyperkinetic movements, Weight loss ORPHA:93958
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Impaired pain sensation, Inability to walk, Typical absence seizure, Seizure, Vesicoureteral refl... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Impaired pain sensation, Inability to walk, Typical absence seizure, Seizure, Vesicoureteral refl... ORPHA:352665
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Seizure, Truncal... OMIM:612474
Pseudohypoparathyroidism Type 1B
Paresthesia, Myoclonic spasms, Low urinary cyclic AMP response to PTH administration, Hypocalcemi... ORPHA:94089
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:620330
Listeriosis
Somatic sensory dysfunction, Ataxia, Tremor, Pyelonephritis, Hemiparesis, Seizure, Myoclonus, Acu... ORPHA:533
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal interstitial e... ORPHA:91500
Joubert Syndrome 1
Hemifacial spasm, Ataxia, Renal cyst, Oculomotor apraxia, Nephropathy OMIM:213300
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Astrocytoma, Bilateral tonic-clonic seizure, Hypospadi... ORPHA:821
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Focal-onset seizure, Typical absence seizure, Renal hypoplasi... OMIM:617157
Kanzaki Disease
Increased urinary O-linked sialopeptides, Aminoaciduria, Distal sensory impairment OMIM:609242
Diets-Jongmans Syndrome
Seizure, Hypospadias, Gliosis OMIM:618846
Pseudohypoparathyroidism Type 1A
Involuntary movements, Obesity, Choreoathetosis, Paresthesia, Low urinary cyclic AMP response to ... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Obesity, Paresthesia, Myoclonic spasms, Low urinary cyclic AMP response to PTH administration, Hy... ORPHA:79444
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Seizure, Failure to thrive, Myoclonus, Tetraplegia OMIM:618278
Gabriele-De Vries Syndrome
Waddling gait, Small for gestational age, Tremor, Gliosis, Ureteropelvic junction obstruction, Hy... ORPHA:506358
Lysinuric Protein Intolerance
Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial... ORPHA:470
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Micropenis, Seizure, Hypertonia, Myoclonus, Fasciculations, Microphallus, ... ORPHA:284339
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Failure to thrive in infancy, Bilateral renal dysplasia, Unilateral re... ORPHA:500150
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, EEG with focal sharp waves, Choreoathetosis, EEG abnormality, Hyperkinetic moveme... ORPHA:522077
Alkaptonuria
Aminoaciduria, Nephrolithiasis ORPHA:56
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Broad-based gait, Involuntary movements, Inability... ORPHA:438213
Sialuria
Seizure, Hyperkinetic movements ORPHA:3166
Meningioma
Hemifacial spasm, Abnormal central motor function, Ataxia, Urinary incontinence, Focal-onset seiz... ORPHA:2495
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Inability to walk, Hyperkinetic... ORPHA:2912
Carpenter Syndrome 2
Micropenis, Generalized non-motor (absence) seizure, Obesity OMIM:614976
Choreoacanthocytosis
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... ORPHA:2388
Mowat-Wilson Syndrome
Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, Renal dupli... ORPHA:2152
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Generalized non-motor (absence) seizure, Apraxia ORPHA:77293
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Bilateral tonic-clonic seizure, Nephrocalcinos... ORPHA:79500
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Broad-based gait, Hypospadias, Urinary incontinence, Failure to thr... ORPHA:261537
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Paralysis... ORPHA:297
Pediatric-Onset Graves Disease
Tremor, Failure to thrive, Hyperkinetic movements ORPHA:525731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Seizure, Spasticity, Myoclonus, EEG abnormality OMIM:253280
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Unilateral renal agenesis, Abnormal renal collecting system morphology, Abnormal pyr... ORPHA:468631
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, Renal dupli... ORPHA:261552
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hypospadias, Poor fine motor coordination, Aminoaciduria, Alp... OMIM:619991
Aspartylglucosaminuria
Seizure, Spasticity, Aspartylglucosaminuria OMIM:208400
Aspartylglucosaminuria
Seizure, Aspartylglucosaminuria ORPHA:93
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Homocystinuria OMIM:601552
Alström Syndrome
Recurrent urinary tract infections, Incoordination, Ataxia, Detrusor sphincter dyssynergia, Recur... 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

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MGI Allele Allele Type Produced
Aldh5a1tm447485(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Aldh5a1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Aldh5a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Aldh5a1tm1(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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