Gene Summary

Name:
glutamic acid decarboxylase 2
Synonyms:
GAD(65),  Gad-2,  6330404F12Rik,  GAD65

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Gad2tm1b(EUCOMM)Wtsi HOM Early adult 1.95×10-08
abnormal behavior Gad2tm1b(EUCOMM)Wtsi HOM Early adult 7.16×10-06
increased circulating sodium level Gad2tm1b(EUCOMM)Wtsi HOM Early adult 5.21×10-06
decreased exploration in new environment Gad2tm1b(EUCOMM)Wtsi HOM Early adult 3.45×10-10
increased circulating alkaline phosphatase level Gad2tm1b(EUCOMM)Wtsi HOM Early adult 6.83×10-07
decreased prepulse inhibition Gad2tm1b(EUCOMM)Wtsi HOM Early adult 6.69×10-05
increased anxiety-related response Gad2tm1b(EUCOMM)Wtsi HOM Early adult 3.06×10-06
decreased respiratory quotient Gad2tm1b(EUCOMM)Wtsi HOM   Early adult 2.36×10-05
increased thigmotaxis Gad2tm1b(EUCOMM)Wtsi HOM Early adult 7.28×10-06
impaired glucose tolerance Gad2tm1b(EUCOMM)Wtsi HOM Early adult 9.59×10-07
increased fasting circulating glucose level Gad2tm1b(EUCOMM)Wtsi HOM   Early adult 4.82×10-06
increased circulating chloride level Gad2tm1b(EUCOMM)Wtsi HOM Early adult 1.87×10-06
increased vertical activity Gad2tm1b(EUCOMM)Wtsi HOM Early adult 1.48×10-07

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brown adipose tissue  Wholemount images heterozygote 100% (1 of 1)
Testis  Wholemount images heterozygote 100% (1 of 1)
Vesicular gland  Wholemount images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brainstem N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 1)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote 0.0% (0 of 1)
Chest bone N/A heterozygote 0.0% (0 of 1)
Colon N/A heterozygote 0.0% (0 of 1)
Cranium N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A heterozygote 0.0% (0 of 1)
Hypothalamus N/A heterozygote 0.0% (0 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Main olfactory bulb N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Oral epithelium N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach pyloric region N/A heterozygote 0.0% (0 of 1)
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote 0.0% (0 of 1)
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 1)
Vascular system N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 1)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 563)
aorta 0.18% (1 of 567)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.71% (4 of 563)
brainstem 0.36% (2 of 554)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 565)
cecum 3.08% (11 of 357)
cerebellum 0.54% (3 of 557)
cerebral cortex 0.18% (1 of 561)
chest bone Unavailable
colon 7.5% (9 of 120)
cranium
diaphragm 0.0%
epididymis 13.49% (17 of 126)
esophagus 1.54% (6 of 390)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.36% (2 of 557)
hindlimb 0.0%
hippocampus 0.54% (3 of 558)
hypothalamus 0.36% (2 of 559)
kidney 3.76% (21 of 558)
large intestine 1.63% (9 of 553)
liver 0.0%
lower urinary tract 0.18% (1 of 548)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 559)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.36% (2 of 563)
oral epithelium 0.0%
ovary 0.18% (1 of 556)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.18% (1 of 543)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 546)
prostate gland 1.97% (11 of 558)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 552)
small intestine 1.58% (9 of 570)
spinal cord 0.54% (3 of 558)
spleen 0.53% (3 of 563)
stomach 2.17% (12 of 553)
stomach pyloric region 0.0%
striatum 0.54% (3 of 556)
sublingual gland 0.0%
submandibular gland 0.83% (1 of 121)
testis 1.08% (6 of 557)
thymus 0.18% (1 of 546)
thyroid gland 3.03% (17 of 561)
tongue 4.2% (5 of 119)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.26% (12 of 368)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Human diseases caused by Gad2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gad2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Depression, Status epilepticus, Aggressive behavior OMIM:603204
Myoclonus-Dystonia Syndrome
Anxiety, Panic attack, Limb myoclonus, Personality disorder, Spinal myoclonus, Torticollis, Depre... ORPHA:36899
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Aggressive behavior, Bilateral tonic-clonic seizure, Generalized non-motor (abs... OMIM:618357
Geniospasm 1
Anxiety, Chin myoclonus OMIM:190100
Polymyoclonus, Infantile
Irritability, Ataxia, Myoclonus OMIM:263550
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Aggressive behavior, Bilatera... OMIM:300088
Dystonia 11, Myoclonic
Anxiety, Agoraphobia, Torticollis, Depression, Myoclonus, Tremor OMIM:159900
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Emotional lability, Abnormality of extrapyramidal motor function, Depression, Babinski si... OMIM:615362
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Anxiety, Inappropriate behavior, Ataxia, Upper motor neuron dysfunction, Rigidity, ... ORPHA:401901
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Bilateral tonic-clonic seizure, Depression, Myoclonus OMIM:619191
Creutzfeldt-Jakob Disease
Anxiety, Extrapyramidal muscular rigidity, Apathy, Gait ataxia, Irritability, Hemiparesis, Depres... OMIM:123400
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Abnormal social behavior, Complex febrile seizure, Anxi... ORPHA:101039
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Lower limb spasticity, Aggressive behavior OMIM:619639
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Irritability, Clumsiness, Bilateral tonic-clonic seizure OMIM:610003
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Poor hand-eye coordination, A... ORPHA:86909
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure... OMIM:615400
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Tremor OMIM:615127
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Parkinsonism, Ataxia, Depression, Abnormality of extrapyramidal motor function, Seizure, Myoclonus OMIM:162350
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Depression, Abnormality of extrapyramidal motor function, Seizure, Myoclonus OMIM:204300
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Agg... ORPHA:2382
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Febrile seiz... ORPHA:307
Intellectual Developmental Disorder, X-Linked 1
Atonic seizure, No social interaction, Aggressive behavior, Bilateral tonic-clonic seizure, Seizure OMIM:309530
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Progressive extrapyramidal movement disorder, Seizure, Myoclonus, Hypertonia OMIM:612736
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Status epilepticus ORPHA:22
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Suicidal ideation, Pseudobulbar paralysis, Aggressive behavior, Spasticity, Focal impaired awaren... ORPHA:208441
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Anxiety, Tremor, Myoclonus, Poor eye contact OMIM:619651
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Seizure, Myoclonus, Tremor OMIM:611092
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Lissencephaly 10
Suicidal ideation, Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Ge... OMIM:618873
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Glycine Encephalopathy
Aggressive behavior, Irritability, Myoclonus, Impulsivity, Seizure, Hyperglycinuria OMIM:605899
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Seizure, Myoclonus, Aggressive behavior OMIM:300699
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
Epilepsy, Familial Temporal Lobe, 8
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... OMIM:616461
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Landau-Kleffner Syndrome
Atypical absence seizure, Frequent falls, Anxiety, Focal myoclonic seizure, Aggressive behavior, ... ORPHA:98818
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Disinhibition, Fasciculations, Inappropriate behavior, Emotional blunting, Aggr... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Hyperphenylalaninemia, Bh4-Deficient, C
Choreoathetosis, Tremor, Irritability, Seizure, Myoclonus, Hypertonia OMIM:261630
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Torticollis, Bilateral tonic-clonic seizure, Hyperkinetic movements, Tremor OMIM:618425
Benign Familial Infantile Epilepsy
Hypertonia, Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic se... ORPHA:306
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Stereotypical hand wringing, Bilateral tonic-clonic sei... OMIM:616056
Progressive Myoclonic Epilepsy Type 1
Intention tremor, Ataxia, Limb ataxia, Morning myoclonic jerks, Myoclonus ORPHA:308
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Generalized-onset seizure, Anxiety, Generalized myoclonic seizure... ORPHA:36387
Epilepsy, Progressive Myoclonic 7
Seizure, Ataxia, Myoclonus, Tremor OMIM:616187
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure, Hypertonia OMIM:269720
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Choreoathetosis, Myoclonus OMIM:617065
Succinic Semialdehyde Dehydrogenase Deficiency
Increased level of gamma-aminobutyric acid in urine, Self-injurious behavior, Anxiety, Generalize... OMIM:271980
Dravet Syndrome
Myoclonic seizure, Abnormal pyramidal sign, Atonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Myoclonus, Familial, 1
Frequent falls, Ataxia, Myoclonus OMIM:614937
Deafness, Congenital, And Familial Myoclonic Epilepsy
Generalized myoclonic seizure, Myoclonus OMIM:220300
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Frequent falls, Spastic paraparesis, Emotional lability, Progressive cerebellar ataxia, Lower lim... ORPHA:254343
Dentatorubral-Pallidoluysian Atrophy
Abnormal pyramidal sign, Choreoathetosis, Ataxia, Chorea, Seizure, Myoclonus OMIM:125370
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Seizure OMIM:617796
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Tremor, Ataxia, Gait ataxia, Generalized non-motor (absence) seizu... OMIM:617831
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Tremor, Gait ata... OMIM:618587
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Status epilepticus, Irritability, Bilateral tonic-clonic seizure, Myoclonus OMIM:609056
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Spinocerebellar Ataxia 48
Dysmetria, Parkinsonism, Anxiety, Ataxia, Gait ataxia, Irritability, Chorea, Bilateral tonic-clon... OMIM:618093
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus, Focal-onset seizure, Generalized-onset seizure ORPHA:86814
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Glucose intolerance, Diabetes mellitus, Depression, Impaired glucose tolerance OMIM:614296
Intellectual Developmental Disorder With Seizures And Language Delay
Anxiety, Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Stereotypical hand wringing, Self-injurious behavior, Inappropriate... ORPHA:397933
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Epilepsy, Progressive Myoclonic, 11
Intention tremor, Ataxia, Rigidity, Seizure, Myoclonus OMIM:618876
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Rigidity, Spasticity, Seizure, Hyperkinetic movements, Myoclonus OMIM:616981
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Rare Non-Syndromic Intellectual Disability
Emotional lability, Bilateral tonic-clonic seizure, Spasticity, Seizure ORPHA:101685
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Tetraplegia, Bilateral tonic-clonic ... OMIM:104290
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Focal-onset seizure, Aggressive behavior, Bilateral tonic-clonic seizure, Gene... OMIM:619157
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Tremor OMIM:613608
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Seizure, Postprandial hyperglycemia OMIM:240600
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism w... OMIM:605407
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Resting tremor, Intention tremor, Anxiety, Bradykinesia, Panic attack, Ataxia, Cogw... OMIM:619725
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Self-injurious behavior, Generalized myoclonic seizure, Athetosis, Ataxia, Aggres... ORPHA:382
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Myoclonus, Tremor OMIM:314250
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Dravet Syndrome
Photosensitive myoclonic seizure, Action tremor, Focal aware seizure, Febrile seizure (within the... ORPHA:33069
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal-onset seizure, Seizure, Myoclonus, Tremor OMIM:608105
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Seizure, Myoclonus, Status epilepticus OMIM:616540
Episodic Ataxia, Type 9
Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Seizure, Status e... OMIM:618924
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Chorea, Seizure, Hyperkinetic movements, Myoclonus OMIM:614254
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Ataxia, Generalized non-motor (absence) seizure, Seizure, Myoclonus, Tremor OMIM:614018
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Tonic seizure, Stereotypical hand wringing, Self-injurious behavior, Focal-onset seizure, Febrile... OMIM:618917
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Dystonia 26, Myoclonic
Anxiety, Blepharospasm, Torticollis, Depression, Myoclonus OMIM:616398
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Speech apra... OMIM:245570
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Ataxia, Myoclonus OMIM:600143
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Disinhibition, Inappropriate behavior, Aggressive behavior, Apathy, Rigidity, Babinski sign, Myoc... OMIM:600795
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Generalized myoclonic seizure, Ataxia, Spasticity, Seizure, Myoclonus OMIM:545000
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor OMIM:601068
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Jeavons Syndrome
Atonic seizure, Focal seizure with eyelid myoclonia, Anxiety, Visually-induced seizure, Generaliz... ORPHA:139431
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Atonic seizure, Generalized myoclonic seizure, Typical absence ... ORPHA:2590
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Sarcosinemia
Tetraparesis, Hypersarcosinuria, Ataxia, Emotional lability, Bilateral tonic-clonic seizure ORPHA:3129
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Fasciculations, Progressive cerebellar ataxia, Gait ataxia, Upper motor ... ORPHA:95434
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclonus, Tremor OMIM:607317
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalized onset, ... OMIM:619028
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Poor eye contact, Bilateral... OMIM:619605
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Irritability, Spasticity, Depression, Seizure, Myoclonus OMIM:256730
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent pancreatitis, Increased g... OMIM:619290
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Myoclonic status ... OMIM:611726
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Stereotypical hand wringing, Self-injurious behavior, Focal-onset ... OMIM:618760
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Choreoathetosis, Myoclonic absence se... OMIM:619317
Juvenile Huntington Disease
Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irritability, Rigidity, Chorea,... ORPHA:248111
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Self-injurious behavior, Anxiety, Lower limb spasticity, Aggressive behavi... ORPHA:485350
Episodic Ataxia, Type 5
Atypical absence seizure, Ataxia, Typical absence seizure, Febrile seizure (within the age range ... OMIM:613855
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Motor stereotypy, Paroxysmal dyskine... ORPHA:208447
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Seizure, Hyperkinetic movements, Tremor OMIM:616921
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Myoclonus, Tremor OMIM:619647
Isolated Focal Cortical Dysplasia
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:65683
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Generalized-onset seizure, Motor stereotyp... ORPHA:178469
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Focal-onset seizure, Ataxia, Paraparesis, Spasticity, Progr... ORPHA:726
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, Anxiety, Bilateral tonic-clonic seizur... ORPHA:1945
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Pancrea... ORPHA:79084
Ceroid Lipofuscinosis, Neuronal, 3
Parkinsonism, Anxiety, Abnormality of extrapyramidal motor function, Seizure, Myoclonus OMIM:204200
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Hemiparesis, Bilateral tonic-clonic seizure, ... ORPHA:101071
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Epilepsy, Early-Onset, Vitamin B6-Dependent
Seizure, Clonus, Myoclonus, Hypertonia OMIM:617290
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure, Pseudobulbar paralysis OMIM:300388
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysmetria, Intention tremor, Anxiety, Ataxia, Aggressive behavior, Dysdiadochokinesis, Babinski s... OMIM:618356
Pontocerebellar Hypoplasia, Type 14
Spastic tetraplegia, Focal-onset seizure, Delayed social development, Bilateral tonic-clonic seiz... OMIM:619301
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Irritabi... ORPHA:3006
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Seizure, Infantile spasms OMIM:619031
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Anxiety, Focal-onset seizure, Generalized-onset seizure OMIM:602066
Early Myoclonic Encephalopathy
Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Focal motor seizure, Focal to... ORPHA:1935
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Foxg1 Syndrome
Impaired social interactions, Choreoathetosis, Motor stereotypy, Hyperkinetic movements, Stereoty... ORPHA:561854
Combined Saposin Deficiency
Hyperkinetic movements, Fasciculations, Babinski sign, Generalized clonic seizure, Myoclonus OMIM:611721
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Atypical Rett Syndrome
Impaired social interactions, Hand apraxia, Pill-rolling tremor, Apraxia, Stereotypical hand wrin... ORPHA:3095
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Ataxia, Myoclonus OMIM:204500
Spinocerebellar Ataxia 17
Dysmetria, Parkinsonism, Intention tremor, Apraxia, Bradykinesia, Ataxia, Aggressive behavior, Ga... OMIM:607136
Developmental And Epileptic Encephalopathy 34
Abnormal pyramidal sign, Focal hemiclonic seizure, Bilateral tonic-clonic seizure with focal onse... OMIM:616645
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Seizure, Choreoathetosis, Myoclonus, Hyperkinetic movements OMIM:618497
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Paroxysmal choreoathetosis, Frequent falls, Poor motor coordination, Clonus, Chor... OMIM:500003
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Paroxysmal dyskinesia, Chorea, Bilateral tonic-clonic seizure, General... ORPHA:79137
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Babinski sign, Seizure, Myoclonus OMIM:606777
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Myoclonic absence seizure, Typical absence seizure, Febrile se... ORPHA:64280
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Ataxia, Spasticity, Seizure, Myoclonus, Tremor OMIM:615924
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Benign Familial Neonatal Epilepsy
Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure, Limb myoclonus, Clonus, Foc... ORPHA:1949
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Abnormal pyramidal sign, Pseudobulbar paralysis, Aggressive behavior, Apathy, Emotional lability,... ORPHA:199354
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Generalized-onset seizure, Fasciculations, Generalized myoclonic seizure, Tongue ... OMIM:159950
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Postural tremor, Rigidity, Depression, Babinski sign, Parkinsonism with favorable r... ORPHA:314632
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure, Ataxia, Tremor OMIM:616421
Severe Canavan Disease
Irritability, Spasticity, Decerebrate rigidity, Bilateral tonic-clonic seizure, Babinski sign, Se... ORPHA:314911
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Status epilepticus, Ataxia, Spast... ORPHA:71277
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Posttransplant Acute Limbic Encephalitis
Cognitive impairment, Hyponatremia, Memory impairment, Anxiety, Ataxia, Depression ORPHA:163921
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Myoclonus, Status epilepticus, Hyperkinetic movements OMIM:618285
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Chin myoclonus, Focal myoclonic seizure, Febrile seizure (withi... ORPHA:263516
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... OMIM:615697
Spinocerebellar Ataxia 19
Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Postu... OMIM:607346
Unilateral Focal Polymicrogyria
Abnormal nonverbal communicative behavior, Bilateral tonic-clonic seizure with focal onset, Aggre... ORPHA:268947
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Huntington Disease
Suicidal ideation, Disinhibition, Anxiety, Involuntary movements, Bradykinesia, Aggressive behavi... ORPHA:399
Hsd10 Disease
Abnormal urinary acylglycine profile, Choreoathetosis, Abnormal social behavior, Spastic parapare... ORPHA:391417
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Generalized myoclonic seizure, Status epilepticus, Hemiplegia, Hemipares... ORPHA:352596
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Focal-onset seizure, Delayed social development, Bilateral tonic-clonic seiz... OMIM:619302
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Bilateral tonic-clonic seizure, Seizure precipitated by febrile infection, Status epilepticus wit... ORPHA:363549
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Tremor OMIM:612016
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure, Aminoaciduria OMIM:249650
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Disinhibition, Apraxia, Inappropriate behavior, Aggressive behavior, Spasticity, Euphoria, Babins... OMIM:221770
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Parkinsonism, Apraxia, Bradykinesia, Rigidity, Spasticity, Bilateral tonic-clonic ... OMIM:300423
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Choreoathetosis, Paroxysmal dyskinesia, Spastic paraplegia, Bilateral to... ORPHA:53583
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Developmental And Epileptic Encephalopathy 1
Spastic tetraparesis, Tonic seizure, Abnormal pyramidal sign, Choreoathetosis, Generalized myoclo... OMIM:308350
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bradykinesia, Ataxia, Rigidity, Bilater... OMIM:617836
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Spastic dysarthria, Anxiety, Bradykinesia, Seizure, Apathy, Emotional la... ORPHA:282166
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Myoclonus, Spastic diplegia OMIM:619065
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Focal-onset seizure, Speech apraxia ORPHA:163721
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal-onset seizure, Focal aware seizure, Focal impaired awareness seizure, Nocturn... ORPHA:98820
Developmental And Epileptic Encephalopathy 16
Abnormality of extrapyramidal motor function, Hemiparesis, Myoclonus, Status epilepticus OMIM:615338
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, Ataxia, Myoclonus OMIM:617829
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Dystonia 23
Torticollis, Head tremor, Myoclonus OMIM:614860
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Ataxia, Spasticity, Chorea, Myoclonus OMIM:617282
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hypoglycemia, Hyperprolinemia, Increased serum py... ORPHA:3008
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Epileptic spasm, ... OMIM:619606
Ceroid Lipofuscinosis, Neuronal, 5
Dysmetria, Ataxia, Dysdiadochokinesis, Clumsiness, Seizure, Myoclonus OMIM:256731
Central Diabetes Insipidus
Anxiety, Depression, Hyponatremia, Lethargy ORPHA:178029
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Spastic diplegia, Ataxia, Irritability, Progressive spasticity, Babinski sign... ORPHA:401866
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Autosomal Dominant Spastic Paraplegia Type 6
Lower limb spasticity, Spastic paraplegia, Babinski sign, Bilateral tonic-clonic seizure, Postura... ORPHA:100988
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor ORPHA:363710
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Clonic sei... OMIM:610539
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Irritability OMIM:304800
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Pontocerebellar Hypoplasia Type 4
Seizure, Myoclonus, Hypertonia ORPHA:166063
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Myoclonus, Hypertonia OMIM:610090
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Dementia, Moto... ORPHA:412066
Intellectual Developmental Disorder, X-Linked 9
Anxiety, Seizure, Aggressive behavior OMIM:309549
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Anxiety, Self-mutilation, Bilateral tonic-clonic seizure, Depression, Upper lim... ORPHA:457240
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Atonic seizure, Apraxia, Gait ataxia, Spasticity, Generalized non-motor (absence) seiz... OMIM:617810
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Generalized myoclonic-atonic seizure, Spasticity, Bilateral tonic-clonic seizure, Infanti... OMIM:619701
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Opisthotonus, Choreoathetosis, Bradykinesia, Ataxia, Rigidity, Clonus, Chorea, Depression, Abnorm... ORPHA:13
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Tremor, Focal-onset seizure, Focal impaired awareness seizure, Sei... ORPHA:330050
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Autosomal Recessive Dopa-Responsive Dystonia
Parkinsonism, Bradykinesia, Ataxia, Gait ataxia, Irritability, Rigidity, Postural tremor, Babinsk... ORPHA:101150
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Spastic hemiparesis, Spasticity, Bil... OMIM:619616
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Low frustration tolerance, Atonic seizure, Motor stereotypy, Anxiety, General... ORPHA:168491
Hemimegalencephaly
Atonic seizure, Focal tonic seizure, Myoclonus, Hemiparesis, Focal motor seizure, Epileptic spasm... ORPHA:99802
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Myoclonus, Hypertonia OMIM:225753
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Disinhibition, Apraxia, Babinski sign, Seizure, Myoclonus OMIM:618193
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Happy demeanor, Tonic seizure, Opisthotonus, Choreoathetosis, Mood swings, Paroxysmal bursts of l... OMIM:619580
Developmental And Epileptic Encephalopathy 56
Action tremor, Anxiety, Poor coordination, Ataxia, Generalized non-motor (absence) seizure, Focal... OMIM:617665
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Bilateral tonic-clonic seizure, Clumsiness, Generalized non-motor (... OMIM:300558
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Pancreatitis, Seizure OMIM:619386
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:607745
Rasmussen Subacute Encephalitis
Focal sensory seizure with somatosensory features, Repeated focal motor seizures, Bilateral tonic... ORPHA:1929
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Suicidal ideation, Motor stereotypy, Anxiety, Involuntary movements, Focal hyperkinetic seizure, ... ORPHA:98784
Gerstmann-Straussler Disease
Parkinsonism, Apraxia, Bradykinesia, Aggressive behavior, Emotional lability, Gait ataxia, Trunca... OMIM:137440
Spastic Ataxia 5, Autosomal Recessive
Dysmetria, Spastic paraparesis, Generalized myoclonic seizure, Oculomotor apraxia, Ataxia, Spasti... OMIM:614487
Pandas
Emotional lability, Irritability, Tics, Separation insecurity, Chorea, Claustrophobia, Impulsivit... ORPHA:66624
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Resting tremor, Anxiety, Bradykinesia, Emotional lability, Gait ataxia, Torticollis... ORPHA:71517
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dysmetria, Ataxia, Aminoaciduria, Seizure, Myoclonus OMIM:250620
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Generalized myoclonic seizure, Focal-onset seizure, Ataxia, Limb myoclonus, Clumsi... ORPHA:352582
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Spastic paraparesis, Focal motor seizure, Bilateral tonic-clonic seizure... OMIM:619338
Congenital Disorder Of Glycosylation, Type In
Spasticity, Seizure, Ataxia, Myoclonus OMIM:612015
Mitochondrial Complex I Deficiency, Nuclear Type 18
Seizure, Myoclonus, Poor eye contact OMIM:618240
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Generalized-onset seizure, Anxiety, Status epilepticus, Focal-onset seizure, Depressio... ORPHA:83601
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Abnormal fear/anxiety-related behavior, Hyponatremi... ORPHA:100924
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Focal-onset seizure, Febrile seizure (within the age range of 3 mont... ORPHA:289266
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:606693
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Generalized-onset seizure, Intention tremor, Gait ataxia, Postural tremor, Myoclonus OMIM:254900
Narp Syndrome
Myoclonic spasms, Ataxia, Irritability, Progressive gait ataxia, Babinski sign, Seizure ORPHA:644
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carc... ORPHA:65682
Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism, Myoclonic spasms, Motor stereotypy, Anxiety, Emotional lability, Poor motor coordin... ORPHA:79264
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Spasticity, Seizure, Myoclonus OMIM:617669
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Myoclonic spasms, Generalized-onset seizure, Ataxia, Spasticity, Chorea, Clumsiness, P... ORPHA:79263
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus, Tremor ORPHA:139485
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618856
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Hemiplegia, Focal-onset seizure, Spastic tetraplegia OMIM:614483
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Slurred speech, Seizure, Myoclonus ORPHA:3327
Sporadic Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Ataxia, Upper motor neuron dysfunction, Spasticity, Babinski sign, Abnor... ORPHA:204
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Hypoadrenocorticism, Familial
Cyanosis, Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:240200
Early-Onset Autosomal Dominant Alzheimer Disease
Parkinsonism, Abnormal social behavior, Apraxia, Disinhibition, Ataxia, Oculomotor apraxia, Seizu... ORPHA:1020
Lafora Disease
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Genera... ORPHA:501
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Spastic gait, Parkinsonism, Lower limb spasticity, Ataxia, Myoclonus ORPHA:306511
Huntington Disease-Like 2
Action tremor, Anxiety, Bradykinesia, Apathy, Irritability, Rigidity, Chorea, Depression OMIM:606438
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Ataxia, Gait ataxia, Bilateral tonic-clonic seizure with general... OMIM:619092
Chorea, Benign Hereditary
Anxiety, Chorea OMIM:118700
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysmetria, Spastic dysarthria, Spastic paraparesis, Generalized myoclonic seizure, Oculomotor apr... ORPHA:313772
Developmental And Epileptic Encephalopathy 4
Spastic tetraplegia, Generalized myoclonic seizure, Spastic paraplegia, Generalized tonic seizure... OMIM:612164
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Generalized myoclonic seizure, Rigidity, Clonus, Babinski sign, Seizure, Multif... OMIM:614498
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Apraxia, Involuntary movements, Bradykinesia, Limb aprax... ORPHA:240103
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Seizure, Myoclonus OMIM:618251
Neuroleptic Malignant Syndrome
Hyponatremia, Anxiety, Hypocalcemia, Hyperkalemia, Hyperuricemia, Elevated circulating creatine k... ORPHA:94093
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hyperglycemia, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
Developmental And Epileptic Encephalopathy 49
Spasticity, Seizure, Myoclonus OMIM:617281
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Peho-Like Syndrome
Seizure, Myoclonus, Status epilepticus OMIM:617507
Tropical Pancreatitis
Weight loss, Jaundice, Pancreatic calcification, Abnormal pancreatic duct morphology, Pancreatic ... ORPHA:103918
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Spastic Paraplegia 82, Autosomal Recessive
Bilateral tonic-clonic seizure with generalized onset, Babinski sign, Spasticity, Focal-onset sei... OMIM:618770
Corticobasal Syndrome
Parkinsonism, Involuntary movements, Bradykinesia, Limb apraxia, Speech apraxia, Limb myoclonus, ... ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia OMIM:616949
Pontocerebellar Hypoplasia, Type 1E
Myoclonus OMIM:619303
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, No social interaction, Unhappy demeanor, Anxiety, ... ORPHA:96369
Hyperekplexia 4
Seizure, Myoclonus, Hypertonia OMIM:618011
Parkinsonism-Dystonia 3, Childhood-Onset
Impaired social interactions, Hypertonia, Action tremor, Parkinsonism, Anxiety, Ataxia, Aggressiv... OMIM:619738
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Ataxia, Myoclonus OMIM:618225
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Involuntary movements, Athetosis, Spasticity, Chorea, Seizure, Hyperkine... OMIM:617493
Pontocerebellar Hypoplasia, Type 2E
Tonic seizure, Opisthotonus, Spastic tetraplegia, Irritability, Spasticity, Bilateral tonic-cloni... OMIM:615851
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Bilateral tonic-clonic seizure with generalized onset, Seizure, Spastic tetraplegia, Hypertonia OMIM:618730
Hyperphenylalaninemia, Bh4-Deficient, B
Choreoathetosis, Limb hypertonia, Irritability, Rigidity, Seizure, Hyperkinetic movements, Tremor OMIM:233910
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Hyperglycemia, Ataxia OMIM:618970
Oxoglutarate Dehydrogenase Deficiency
Gait ataxia, Bilateral tonic-clonic seizure, Dysmetria, Rigidity OMIM:203740
Thyrocerebroretinal Syndrome
Slurred speech, Seizure, Ataxia, Myoclonus OMIM:274240
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Spasticity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hyp... OMIM:616281
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Irritability ORPHA:457205
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Dysmetria, Intention tremor, Ataxia, Tongue fasciculations, Babinski sign, Bilateral tonic-clonic... OMIM:618170
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Bilateral tonic-clonic seizure with generalized onset, Spasticity, Migrating focal... OMIM:618559
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Failure to thrive, Pancreatitis, Seizure ORPHA:79312
Paroxysmal Non-Kinesigenic Dyskinesia
Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Rigidity, Chorea, Torticollis, Hyp... ORPHA:98810
Caribbean Parkinsonism
Action tremor, Parkinsonism, Apraxia, Bradykinesia, Weakness due to upper motor neuron dysfunctio... ORPHA:97355
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Atonic seizure, Motor stereotypy, Poor eye contact, Generalized tonic seizure, Focal impaired awa... ORPHA:411986
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Tremor OMIM:607876
Developmental And Epileptic Encephalopathy 90
Limb hypertonia, Focal-onset seizure, Babinski sign, Focal impaired awareness seizure, Bilateral ... OMIM:301058
Familial Infantile Bilateral Striatal Necrosis
Tetraparesis, Spastic tetraparesis, Frequent falls, Choreoathetosis, Ataxia, Cogwheel rigidity, G... ORPHA:225154
Gaucher Disease, Type Iii
Spastic paraparesis, Generalized myoclonic seizure, Ataxia, Depression, Myoclonus OMIM:231000
Riboflavin Transporter Deficiency
Ataxia, Aggressive behavior, Seizure, Myoclonus, Tremor ORPHA:97229
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Vocal tremor, Torticollis, Upper limb postural tremor, Myoclonus ORPHA:420485
D-Glyceric Aciduria
Opisthotonus, Spastic tetraplegia, Aminoaciduria, Seizure, Myoclonus OMIM:220120
Adenylosuccinase Deficiency
Happy demeanor, Opisthotonus, Aggressive behavior, Poor eye contact, Gait ataxia, Inappropriate l... OMIM:103050
Leukodystrophy, Hypomyelinating, 11
Spasticity, Ataxia, Myoclonus, Tremor OMIM:616494
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, No social interaction, Head tremor, Bilateral tonic-clon... OMIM:619428
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hypoglycemia, Hyponatremia OMIM:614736
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Seizure, Infantile spasms ORPHA:250972
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Ataxia, Spasticity, Seizure, Myoclonus, Hypertonia OMIM:618426
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Seizure, Myoclonus OMIM:604218
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Abnormal aggressive, impulsive or violent behavior, Lower limb spas... ORPHA:3077
Chylous Ascites
Pancreatitis ORPHA:1160
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Pancreatitis OMIM:618805
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Resting tremor, Involuntary movements, Bradykinesia, Slowed slurred spee... ORPHA:391411
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Oculomotor apraxia, Gait ataxia, Spasticity, Bilateral tonic-clonic seizure, Seizure, ... ORPHA:529665
X-Linked Intellectual Disability, Hedera Type
Action tremor, Dysmetria, Atonic seizure, Frequent falls, Apraxia, Extrapyramidal muscular rigidi... ORPHA:93952
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraplegia, Anxiety, Focal-onset seizure, Upper motor neuron dysfunction, Pro... ORPHA:329308
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus ORPHA:324588
Stiff-Person Syndrome
Frequent falls, Opisthotonus, Myoclonic spasms, Anxiety, Rigidity, Exaggerated startle response, ... OMIM:184850
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Seizure, Myoclonus OMIM:614462
Maple Syrup Urine Disease
Hypoglycemia, Seizure, Pancreatitis OMIM:248600
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Seizure, Myoclonus OMIM:614946
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Incoordination, Abnormal pyramidal sign, Borderline personality disorder, Ataxi... OMIM:618060
Dystonia 28, Childhood-Onset
Torticollis, Retrocollis, Spasticity, Myoclonus OMIM:617284
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset, Seizure precipitated ... ORPHA:363558
Sulfite Oxidase Deficiency, Isolated
Choreoathetosis, Ataxia, Hemiplegia, Bilateral tonic-clonic seizure, Sulfocysteinuria, Hypertonia OMIM:272300
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Generalized myoclonic seizure, Limb hypertonia, Increased urinary taur... OMIM:615501
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Pancreatitis, Hepat... OMIM:600803
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618858
Schindler Disease, Type I
Spasticity, Seizure, Myoclonus OMIM:609241
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Spasticity, Abnormality of extrapyramidal motor function, Seizure, Myoclonus OMIM:614299
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Hepatomegaly, Pancreatitis OMIM:243300
Developmental And Epileptic Encephalopathy 68
Status epilepticus, Clonus, Spasticity, Exaggerated startle response, Myoclonus OMIM:618201
Adult-Onset Cervical Dystonia, Dyt23 Type
Head tremor, Panic attack, Limb tremor, Torticollis, Myoclonus ORPHA:420492
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Irritability... OMIM:267700
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Generalized myoclonic seizure, Lower limb spasticity, Focal myocl... ORPHA:464282
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pan... OMIM:167800
Basal Ganglia Calcification, Idiopathic, 5
Parkinsonism, Anxiety, Athetosis, Apathy, Chorea, Motor tics, Depression OMIM:615483
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Choreoathetosis, Bradykinesia, Gait ataxia, Rigidity, Sp... OMIM:618877
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Intention tremor, Fasciculations, Gait ataxia... ORPHA:397946
Baker-Gordon Syndrome
Choreoathetosis, Self-injurious behavior, Involuntary movements, Ataxia, Hyperkinetic movements OMIM:618218
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Status epilepticus, Ataxia, Gait ataxia, Poor motor coordi... ORPHA:363400
Tropical Calcific Pancreatitis
Pancreatic calcification, Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Bilateral tonic-clonic seizure, Seizure ORPHA:488635
Valinemia
Hyperkinetic movements, Valinuria OMIM:277100
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Eczema, Failure to thrive, Pancreatitis, Seizure OMIM:606054
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Parkinsonism, Fasciculations, Bradykinesia, Oculomotor apraxia, Progres... OMIM:183090
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Status epilepticus, Limb hypertonia, Ataxia, Rigidity, Spasticity, Abnorma... ORPHA:442835
Ataxia-Telangiectasia-Like Disorder
Frequent falls, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Chorea, Dysdiadochokinesis, Ocu... ORPHA:251347
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Myoclonus OMIM:619057
Hereditary Hyperekplexia
Fasciculations, Ataxia, Rigidity, Spasticity, Seizure, Myoclonus, Hypertonia ORPHA:3197
Cholera
Hypokalemia, Hypoglycemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Lethargy... ORPHA:173
Spinocerebellar Ataxia Type 36
Dysmetria, Hand tremor, Intention tremor, Head tremor, Fasciculations, Ataxia, Truncal ataxia, Li... ORPHA:276198
D-Glyceric Aciduria
Spasticity, Chorea, Myoclonus, Seizure, Hyperglycinuria ORPHA:941
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Nipah Virus Disease
Seizure, Myoclonus, Tremor ORPHA:99825
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Intellectual Developmental Disorder, X-Linked 98
Impaired social interactions, Self-biting, Stereotypical body rocking, Tonic seizure, Atonic seiz... OMIM:300912
Hyperekplexia 1