Gene Summary

Name:
potassium inwardly rectifying channel, subfamily J, member 11
Synonyms:
Kir6.2

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 hemoglobin content Kcnj11tm1b(EUCOMM)Wtsi HOM Early adult 1.02×10-10
abnormal ear morphology Kcnj11tm1b(EUCOMM)Wtsi HOM   Early adult 5.16×10-05
impaired glucose tolerance Kcnj11tm1b(EUCOMM)Wtsi HOM Early adult 2.99×10-20
decreased fasting circulating glucose level Kcnj11tm1b(EUCOMM)Wtsi HOM Early adult 4.26×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Vascular system  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 50% (1 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote Not available
Handplate N/A homozygote Not available
Head N/A heterozygote 50% (1 of 2)
Head N/A homozygote 50% (1 of 2)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Wholemount

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

Human diseases caused by Kcnj11 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 Kcnj11 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:618856
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Seizure, Hypoinsulinemia, Hypothyroidism... ORPHA:99886
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Excessive insulin response to glucagon test, Hyperinsulinemia, Episodi... ORPHA:276580
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin concentration, Glycosuria, H... ORPHA:552
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Apraxia, Bilateral tonic-clonic seizure, Glycosuria, Reduced pancr... ORPHA:99885
Dend Syndrome
Thickened ears, Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134

The table below shows human diseases predicted to be associated to Kcnj11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Seizure, Tremor, Bilateral tonic-... OMIM:615127
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Hypsarrhythmia, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:619964
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Enhancement of the C-reflex, EEG with irregular generalized spike ... OMIM:601068
Severe Primary Trimethylaminuria
Obsessive-compulsive trait, Emotional lability, Depression, Negative affectivity, Aggressive beha... ORPHA:468726
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Enhancement of the C-reflex, Tremor, Bilateral tonic-clonic seizure, Giant s... OMIM:613608
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Focal aware seizure, Bilateral tonic-clonic seizure, Visually-indu... OMIM:614417
Infantile Spasms Syndrome
Hypsarrhythmia, Infantile spasms, Myoclonus ORPHA:3451
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensor... OMIM:615400
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus, EEG with generalize... OMIM:616187
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, EEG with centrotemporal focal spike waves, Hyperkin... ORPHA:725
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abdominal pain, Abnormality of body weight, Decreased body weight, Growth delay,... ORPHA:314811
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure... OMIM:615006
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, EEG with generalized polyspikes, Bilateral tonic-clonic ... OMIM:254770
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, EEG with polyspike wave complexes, Intention tremor, Morning myoclonic jerks, Ataxia... ORPHA:308
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... ORPHA:139431
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, EEG abnormality, Hand tremor ORPHA:86814
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Chorea, Absence seizure with ey... OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, EEG with spike-wave complexes, ... OMIM:607682
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hypsarrhythmia, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:619970
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, EEG with polyspike wave c... OMIM:254800
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Hypsarrhythmia, Spasticity, Tonic seizure, Bilateral tonic-... OMIM:613722
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked potentials, M... OMIM:608105
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with generalized poly... OMIM:615369
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Hypsarrhythmia, Chorea, Infantile spasms, Seizure, Spasticity, Bilateral tonic-c... OMIM:616139
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... ORPHA:293964
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Short stature, Growth delay, Decreased serum insulin-like growth factor 1, Hypog... ORPHA:314802
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Bilateral tonic-clonic seizure, Hyp... OMIM:240900
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal... OMIM:613721
Chromosome 15Q11-Q13 Duplication Syndrome
Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, EEG abnormality, Increased serum serotonin OMIM:608636
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myocloni... OMIM:617389
Epilepsy, Progressive Myoclonic, 11
Seizure, Intention tremor, Rigidity, Ataxia, Giant somatosensory evoked potentials, Myoclonus OMIM:618876
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Hypsarrhythmia, Focal motor seizure, Seizure, Inf... ORPHA:599373
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Depression, Truncal ataxia, Gait di... ORPHA:98764
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:616056
Episodic Ataxia, Type 5
Typical absence seizure, EEG with spike-wave complexes, Truncal ataxia, Episodic ataxia, Bilatera... OMIM:613855
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, EEG abnormality, Ataxia, Myoclonus OMIM:600143
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Myoclonic ... OMIM:162350
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, EEG abnormality, Bilateral tonic-clonic seizure, Involuntary movements OMIM:617171
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonic status epilepti... OMIM:614018
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:618856
Centralopathic Epilepsy
Nocturnal seizures, EEG with centrotemporal focal spike waves, Focal-onset seizure, Bilateral ton... OMIM:117100
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, EEG with focal sharp waves, Bilateral tonic-clonic seizure with foc... ORPHA:163721
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Truncal ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Myoclonus, Choreoa... OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-cl... ORPHA:2382
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Interictal epileptiform activity, Focal aware seizure, G... ORPHA:101046
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Generalized-onset sei... ORPHA:1941
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with irregular genera... ORPHA:86909
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Early Myoclonic Encephalopathy
Generalized myoclonic seizure, Focal seizure with eyelid myoclonia, Hypsarrhythmia, Focal motor s... ORPHA:1935
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure... OMIM:266100
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Hypsarrhythmia, Infantile spasms... ORPHA:98820
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal EEG discharges with secondary generalization, Focal-onset seizure, ... ORPHA:1949
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:208700
Polymyoclonus, Infantile
Irritability, Ataxia OMIM:263550
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... OMIM:600669
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Hypsarrhythmia, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence ... OMIM:616346
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, Photosensitive tonic-... ORPHA:307
Developmental And Epileptic Encephalopathy 59
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Ataxia, Focal cl... OMIM:617904
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Hypsarrhythmia, Incoordination, Seizure, Bilateral toni... OMIM:616409
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Hypsarrhythmia, Status epilepticus, Myoclonus, Spastic tetraplegia, EEG a... OMIM:618285
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Gait ataxia, Fre... OMIM:616540
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... ORPHA:98818
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Seizure, Ataxia, Myoclonus OMIM:204500
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Focal EEG discharges with secondary generalization, Photosensitive myocl... ORPHA:263516
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Severe postnatal growth retardation, Impaired growth-hormone response to insu... OMIM:262700
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years)... OMIM:616366
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Hyperkinetic movem... OMIM:619317
Creutzfeldt-Jakob Disease
Irritability, Memory impairment, Depression, Confusion, Gait ataxia, Dementia OMIM:123400
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic absence s... OMIM:619000
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Incoordination, Action tremor, Atypical absenc... ORPHA:33069
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Seizure, Hypoinsulinemia, Hypothyroidism... ORPHA:99886
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Lower limb spasticity, Spasticity, Bilateral tonic-clonic seizure, Ga... OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral tonic-clonic seizure... OMIM:204300
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, EEG with sp... OMIM:614558
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myocl... OMIM:617113
Manganese Poisoning
Bradykinesia, Irritability, Akinesia, Memory impairment, Depression, Emotional lability, Confusio... ORPHA:306682
Hemimegalencephaly
Epileptic spasm, EEG with polyspike wave complexes, EEG with focal spikes, Focal motor seizure, S... ORPHA:99802
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Focal tonic seizure, Athetosis, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:617106
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Emotional lability, Chorea, Gait disturbance, Dysphagia, Dementia OMIM:607674
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, EEG w... ORPHA:101071
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Prolonged neonatal jaundice, Severe short stature, Decreased serum insulin-like gro... OMIM:262400
Glut1 Deficiency Syndrome 1
Babinski sign, Seizure, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, EEG abnormality, C... OMIM:606777
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Multifocal seizures, Spasticity, Bilateral tonic-clonic seizure, ... OMIM:616981
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Episodic hyperhidrosis, Matur... ORPHA:324575
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Myoclonus-Dystonia Syndrome
Limb myoclonus, Torticollis, Spinal myoclonus, Myoclonus ORPHA:36899
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Spastic gait, Focal-onset seizure, EEG with polyspike wa... OMIM:620540
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Spinocerebellar Ataxia 20
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... OMIM:607876
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fatigue, Recurrent hypoglycemia, Insulin resistance,... ORPHA:263458
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Bradykinesia, Generalized myoclonic seizure, Focal-onset... ORPHA:36387
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Seizure, Tremor... OMIM:615362
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Normal interictal EEG, Bilateral tonic-clonic seizure, Bilatera... OMIM:607745
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, EEG with polyspike wave complexes, EEG with spike-wave c... OMIM:607681
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis... OMIM:618141
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Seizure, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsuli... ORPHA:79299
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, EEG with irregular g... ORPHA:352596
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, Chorea, Generalized-onset seizure... ORPHA:79137
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with polyspike wave c... OMIM:611364
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Lissencephaly 10
Generalized non-motor (absence) seizure, Torticollis, Generalized-onset seizure, Bilateral tonic-... OMIM:618873
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Interictal epileptiform activity, Seizure, Focal tonic seizure, Limb tremor, Myoclonus OMIM:300699
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Seizure, Spasticity, Status epilepticus, Hemiparesis, Ataxia, Extrap... ORPHA:71277
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Developmental And Epileptic Encephalopathy 92
Seizure, Spasticity, Ataxia, Myoclonus, EEG abnormality OMIM:617829
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Intention tremor, Progressive cerebellar ataxia, Myoclonus ORPHA:2589
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Seizure, Tremor, Spasticity, Frequent falls, Gait ata... OMIM:607317
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG abnormality OMIM:612621
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Depression, Ataxia, Attention deficit hyperactivity disorder, Dysmetria, Ment... OMIM:619191
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, EEG with focal spikes, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic s... ORPHA:140927
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Hypokalemic Periodic Paralysis
Respiratory paralysis, Adrenocortical adenoma, Periodic hypokalemic paresis, Paralysis, Postprand... ORPHA:681
Developmental And Epileptic Encephalopathy 40
Hypsarrhythmia, Seizure, Spasticity, Spastic tetraparesis, Myoclonus, Choreoathetosis OMIM:617065
Salt And Pepper Developmental Regression Syndrome
Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus... OMIM:609056
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Excessive insulin response to glucagon test, Hyperinsulinemia, Episodi... ORPHA:276580
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Upper motor neuron dy... ORPHA:95434
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Myoclonus, Familial, 2
Limb myoclonus, Seizure OMIM:618364
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Seizure, Tremor, Spasticity, Ataxia, Abnormal pyram... ORPHA:79262
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Excessive insulin response to glucagon test, Hyperinsulinemia, Episodi... ORPHA:276575
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh... ORPHA:276608
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypoglycemia, Hypertonia, Myoclonus OMIM:610090
Ceroid Lipofuscinosis, Neuronal, 5
Abnormal nervous system electrophysiology, Seizure, Dysdiadochokinesis, Limb tremor, Ataxia, Myoc... OMIM:256731
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Percussion myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Myot... ORPHA:684
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-c... OMIM:617836
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Unilateral Focal Polymicrogyria
Simple febrile seizure, EEG with parietal focal spikes, Spastic hemiparesis, Focal motor seizure,... ORPHA:268947
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Tremor, Frequent falls, Myoclonus OMIM:619647
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Erratic myoclonus, Seizure, Ataxia, Myoclonus, Spastic tetraplegia, EEG with bur... OMIM:619971
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Excessive insulin response to glucagon test, Hypoglycemic seizures, Ep... ORPHA:276556
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Hyperinsulinemic hypoglycemia... ORPHA:35878
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Arthralgia/arthriti... ORPHA:411593
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication, Myoclonus OMIM:314250
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Hypsarrhythmia, Focal motor seizure, Seizure, Spasticity, Bilateral tonic-clonic... OMIM:617711
Yoon-Bellen Neurodevelopmental Syndrome
Hypsarrhythmia, Infantile spasms, Spasticity, Bilateral tonic-clonic seizure, Ataxia, Status epil... OMIM:619701
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Increased circulating ... ORPHA:363549
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Fasciculations, Myoclonus OMIM:611721
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly, Progressive cerebellar ataxia ORPHA:67046
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young, Elevated hemoglobin A1c OMIM:616511
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Generalized myoclonic seizure, Seizure, Spasticity, Ataxia, Myoclonus OMIM:545000
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon... OMIM:618924
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus OMIM:159900
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Apraxia, Spasticity, Tremor, Bilateral tonic-clonic seiz... OMIM:617810
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Interictal epileptiform activity, S... OMIM:619157
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Hyperkinetic movements, Chorea, Seizure, Truncal ataxia, Exercise-induced muscle fatigue ORPHA:369847
Hypoglycemia, Leucine-Induced
Seizure, Spasticity, Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Bilateral tonic-clonic seizure OMIM:619639
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, Bilateral tonic-clonic seizure wi... OMIM:609446
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Developmental And Epileptic Encephalopathy 23
Hypsarrhythmia, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, ... OMIM:615859
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o... OMIM:612691
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Cerebral pals... OMIM:617976
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Hypertonia, Hypsarrhythmia, Focal emotional seizure with laughing, Bilateral ton... ORPHA:293181
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic s... OMIM:617290
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Seizure, Spasticity, Bilateral tonic-clonic seizure, ... OMIM:617350
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Developmental And Epileptic Encephalopathy 90
Babinski sign, Focal-onset seizure, Limb hypertonia, Hypsarrhythmia, Bilateral tonic-clonic seizu... OMIM:301058
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Cardiomyopathy, Sudden death OMIM:609016
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia, Severe short stature OMIM:223500
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Myoclonus OMIM:619303
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Seizure, Spasticity, Bilateral tonic-clonic seizure, Status epilepticus, Hypothyroidism, ... OMIM:613970
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Spasticity, Bilateral tonic-clonic seizure, Tonic seizure, Gait ataxia, ... OMIM:620145
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Frequent falls, Ataxia, M... OMIM:301020
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic status epilepticus, Truncal ataxia, Bilateral tonic-clon... OMIM:611726
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Hyperkinetic movements, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:618497
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Bilateral tonic-clonic seizure OMIM:104290
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure, Bilateral tonic-clonic sei... OMIM:601764
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Seizure, Generalized-onset seizure, Tremor, Spasticity, EEG with generalized slow activit... ORPHA:79263
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, S... OMIM:271980
Sydenham Chorea
Inappropriate behavior, Irritability, Emotional lability, Chorea, Compulsive behaviors, Unsteady ... ORPHA:306731
Huntington Disease-Like 2
Bradykinesia, Irritability, Memory impairment, Subcortical dementia, Chorea, Depression, Dementia OMIM:606438
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Hyperkinetic movements, Chorea, Seizure, Spasticity, Myoclonic seizure, Myoclonu... OMIM:614254
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Severe Neonatal-Onset Encephalopathy With Microcephaly
EEG with focal slow activity, Seizure, Spasticity, Bilateral tonic-clonic seizure, Involuntary mo... ORPHA:209370
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Hypertonia, Focal-onset seizure, EEG with multifocal slow activity, Bilateral to... ORPHA:289266
Encephalopathy, Progressive, With Or Without Lipodystrophy
Seizure, Tremor, Spasticity, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Peho-Like Syndrome
Hypsarrhythmia, Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Kohlschutter-Tonz Syndrome
Focal-onset seizure, Hypsarrhythmia, Seizure, Spasticity, Bilateral tonic-clonic seizure, Myoclon... OMIM:226750
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Gait imbalance, Falls, Freezing of gait, Unsteady gait, Loss of ambulation, Dementia, S... ORPHA:240094
Developmental And Epileptic Encephalopathy 16
Abnormality of extrapyramidal motor function, Hemiparesis, Myoclonus, Status epilepticus, Clonic ... OMIM:615338
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Abnormal pyramidal... OMIM:616645
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Male hypogonadism, Diffic... OMIM:300148
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Infantile spasms, Spasticity, Athetosis, Bilateral tonic-clonic s... OMIM:617493
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Chorea, Seizure, Ath... ORPHA:382
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Chorea, Incoordination, Poor motor coordination, Frequent falls, Clonus, Paroxysma... OMIM:500003
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokin... ORPHA:313772
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Developmental And Epileptic Encephalopathy 1
Generalized myoclonic seizure, Focal-onset seizure, Hypertonia, Erratic myoclonus, Hypsarrhythmia... OMIM:308350
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Tremor, Delayed menarche, Bilateral ... ORPHA:330050
Late Infantile Neuronal Ceroid Lipofuscinosis
Generalized myoclonic seizure, Focal-onset seizure, EEG with spike-wave complexes, Typical absenc... ORPHA:168491
Dystonia 23
Head tremor, Torticollis, Myoclonus OMIM:614860
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic runs, Myo... OMIM:160800
Ceroid Lipofuscinosis, Neuronal, 1
Seizure, Spasticity, Ataxia, Myoclonus, EEG abnormality OMIM:256730
Hyperekplexia 4
Hypertonia, Hypsarrhythmia, Seizure, Infantile spasms, Myoclonus OMIM:618011
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, EE... ORPHA:485350
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Impulsivity, Cognitive impairment, Gait ata... OMIM:607454
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Glycogen Storage Disease Vi
Postnatal growth retardation, Hepatomegaly, Increased hepatic glycogen content, Failure to thrive... OMIM:232700
Perry Syndrome
Bradykinesia, Inappropriate behavior, Akinesia, Frontotemporal dementia, Depression, Disinhibitio... OMIM:168605
Rasmussen Subacute Encephalitis
Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure... ORPHA:1929
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls OMIM:616921
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Hypsarrhythmia, Tremor... OMIM:612164
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Babinski sign, Apraxia, Seizure, Myoclonus, EEG abnormality OMIM:618193
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Seizure, Tremor, Myoclonus, Choreoathetosis OMIM:261630
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c OMIM:618858
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertonia, Myoclonus, S... ORPHA:254343
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Spinocerebellar Ataxia Type 37
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Babinski sign, Myoclonic status epilepticus, Generalized tonic seizure, Hypsarrh... OMIM:617105
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Insulinoma
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neoplasm of the adrenal gland, Increased body we... ORPHA:97279
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Small pituitary gland, Bilateral tonic-clonic seizure wi... OMIM:620115
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Seizure, Generalized-onset seizure, Spastic tetraparesis, Bilateral tonic-clonic seiz... OMIM:604317
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Seizure, Spasticity, Bilateral tonic-clonic seizure, Action... OMIM:300423
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus OMIM:619651
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Ataxia, Myo... OMIM:619028
Post-Traumatic Pituitary Deficiency
Abnormality of secondary sexual hair, Delayed puberty, Central diabetes insipidus, Decreased resp... ORPHA:95619
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Babinski sign, Lower limb spasticity, Fasciculations, Intention tremor, Spastic pa... OMIM:615491
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:619301
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Depression, Chorea, ... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia, Generalized tonic seizure OMIM:611603
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, EEG with occipital epileptiform discha... ORPHA:254881
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Bradykinesia, Torticollis, Abnormal nerve conduction velocity, Gait ataxia, Limb myo... OMIM:619862
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Seizure, Tremor, Spasticity, Poor motor coordination, Gait ataxia, Ataxia, Myoc... ORPHA:363400
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Focal-onset seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:617166
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Intention tremor, Myoclonus, Status epi... OMIM:610539
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue ORPHA:45
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typi... ORPHA:208447
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Spinocerebellar Ataxia 48
Irritability, Depression, Chorea, Gait ataxia, Ataxia, Dysphagia, Dysmetria, Mental deterioration OMIM:618093
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, Parkinsoni... OMIM:204200
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca... OMIM:617935
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Brody Disease
Fasciculations, Percussion myotonia, Myotonia OMIM:601003
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:619302
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Ataxia, Spasticity, Bilateral tonic-clonic seizure OMIM:620317
Corticobasal Syndrome
Bradykinesia, Akinesia, Memory impairment, Gait disturbance, Dementia, Somatic sensory dysfunction ORPHA:454887
Glucocorticoid Deficiency 2
Increased circulating ACTH level, Focal motor seizure, Abnormal circulating renin, Spastic tetrap... OMIM:607398
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Genera... OMIM:612016
Spinocerebellar Ataxia Type 21
Cognitive impairment, Akinesia, Progressive cerebellar ataxia, Gait ataxia ORPHA:98773
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Dementia, Mental deterioration, Aggressive behavior OMIM:300894
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Appendicular spasticity OMIM:617082
Neuropathy, Hereditary Sensory, Type Ie
Irritability, Memory impairment, Impulsivity, Ataxia, Delirium, Dementia OMIM:614116
Aromatic L-Amino Acid Decarboxylase Deficiency
Increased circulating prolactin concentration, Hypotension, Hypoglycemia, Short stature, Failure ... ORPHA:35708
Congenital Disorder Of Glycosylation, Type In
Seizure, Ataxia, Spasticity, Myoclonus OMIM:612015
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Tremor, Tonic seizure, Bilateral tonic-clonic seizure, Gait ataxia... OMIM:618090
Pyridoxine-Dependent Epilepsy
Hypsarrhythmia, Hypoglycemia, EEG with generalized sharp slow waves, Restlessness, Multifocal epi... ORPHA:3006
Xp21 Deletion Syndrome
Spasticity, Seizure, Primary adrenal insufficiency, Increased muscle fatiguability, Hypogonadotro... ORPHA:261476
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Hypsarrhythmia, Infantile spasms, Spastic tetraparesis, Bilateral tonic-clon... OMIM:618012
Childhood Disintegrative Disorder
Abnormal emotion, Motor deterioration, Progressive language deterioration, Motor stereotypy, Deme... ORPHA:168782
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Spastic hemiparesis, Infantile spas... OMIM:619616
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Hypsarrhythmia, Chorea, Seizure, Abnormality of... ORPHA:13
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl... OMIM:607346
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Bilateral toni... OMIM:614487
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Bilateral tonic-clonic seizure, Spastic paraplegia, Abnor... ORPHA:53583
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Hirsutis... OMIM:615962
Mitochondrial Complex I Deficiency, Nuclear Type 19
Seizure, Athetosis, Rigidity, Myoclonus, Hypoglycemia OMIM:618241
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Hypertension, Polyph... ORPHA:71529
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Bilateral tonic-clonic seizure, Spastic paraplegia, Postura... ORPHA:100988
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Finger joint contracture, Short stature, Ataxia, Intrauterine growth ... ORPHA:48431
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Bilateral tonic-clonic seizure, Gait ataxia OMIM:617862
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Chorea, EEG abnormality, Focal-onset seizure OMIM:618760
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Dystonia 22, Juvenile-Onset
Torticollis, Lower limb spasticity, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Intention... OMIM:620453
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Postexertional symptom exacerbation, I... ORPHA:369
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Neonatal hypoglycemia, Chorea, Cerebral palsy, Bilateral... OMIM:617600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability, Ataxia, Gait ataxia OMIM:613077
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Oculomotor apraxia, Seizure, Tremor, Spasticity, Bilateral tonic-clonic seizure, Gait ataxia, Sta... ORPHA:529665
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Tongue fasciculations, Generalized-onset seizure, Tremor, Frequent... OMIM:159950
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c OMIM:606176
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital epileptiform discharges, Bilateral ... OMIM:619428
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610992
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Fasting hypoglycemia, Short stature, Precocious puberty,... OMIM:262190
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Pontocerebellar Hypoplasia, Type 4
Seizure, Hypertonia, Spasticity, Myoclonus OMIM:225753
Rolandic Epilepsy
Focal-onset seizure, EEG with irregular generalized spike and wave complexes, Bilateral tonic-clo... ORPHA:1945
Foxg1 Syndrome
Focal-onset seizure, Hyperkinetic movements, Infantile spasms, Spasticity, Bilateral tonic-clonic... ORPHA:561854
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Postnatal growth retardation, Neonatal hypoglycemia, Decreased body weight, Short stature, Hyperh... ORPHA:231140
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up phenomenon, Myotonia OMIM:255700
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Progressive spastic paraplegia ORPHA:306511
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, Seizure, Status epilepticus, Myoclonus, Hypoglycemia, EEG with burst suppression ORPHA:79096
Thyrocerebrorenal Syndrome
Euthyroid goiter, Seizure, Nonprogressive cerebellar ataxia, Myoclonus, Slurred speech ORPHA:3327
Spinocerebellar Ataxia 17