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Gene: Kcnj11 MGI:107501

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased fasting circulating glucose level Kcnj11tm1b(EUCOMM)Wtsi HOM Early adult 4.26×10-07
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 2.90×10-20

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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 Whole Body Lateral Orientation

9 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Adult LacZ

LacZ Images Wholemount

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View 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
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Hypsarrhythmia, Type I diabet... OMIM:618856
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Seizure, Diabetic ketoacidosis, Maternal di... ORPHA:99886
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Maternal diabetes, Type I diabetes mellitus,... ORPHA:276580
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c OMIM:610582
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormal circulating ins... ORPHA:552
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cells, Glycosuria, Apraxia,... ORPHA:99885
Dend Syndrome
Hyperglycemia, Thickened ears, 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
Seizure, EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral... OMIM:615127
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized sp... OMIM:601068
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Tonic seizure, Bilateral t... OMIM:619964
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, ... OMIM:613608
Chorea, Benign Hereditary
Chorea, Gait disturbance, Dementia, Anxiety OMIM:118700
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-i... OMIM:614417
Infantile Spasms Syndrome
Hypsarrhythmia, Myoclonus, Infantile spasms ORPHA:3451
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Interictal epileptiform activity, Bilatera... OMIM:615400
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Depression, An... ORPHA:280397
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Bilateral ton... OMIM:616187
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes OMIM:611364
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Short Stature Due To Ghsr Deficiency
Decreased body weight, Short stature, Abdominal pain, Abnormality of body weight, Delayed puberty... ORPHA:314811
Continuous Spikes And Waves During Sleep
EEG with centrotemporal focal spike waves, Typical absence seizure, Seizure, Focal motor seizure,... ORPHA:725
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Hypsarrhythmia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se... OMIM:615006
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Inten... ORPHA:308
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, EEG abnormality, Focal-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Tr... OMIM:618587
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Myoclonus, Hand tremor, Bilateral tonic-clonic seizure, Focal hemifacial clo... OMIM:608105
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, EEG abnormality, Truncal ataxia, Increased serum serotonin, Bilateral tonic-clonic seizure OMIM:608636
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Developmental And Epileptic Encephalopathy 12
Spasticity, Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, E... OMIM:613722
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, Bilateral... OMIM:254800
Developmental And Epileptic Encephalopathy 104
Seizure, Hypsarrhythmia, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal imp... OMIM:619970
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Multifocal epileptiform discharges... OMIM:615369
Developmental And Epileptic Encephalopathy 54
Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic s... OMIM:617391
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Chorea, Spasticity, Seizure, Hypsarrhythmia, Myoclonus, Bilateral tonic-clonic... OMIM:616139
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Hereditary Geniospasm
Chin myoclonus, Intention tremor, EEG abnormality ORPHA:53372
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, EEG abnormality OMIM:614115
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater... OMIM:613721
Spinocerebellar Ataxia Type 27
Gait ataxia, Aggressive behavior, Akinesia, Truncal ataxia, Limb ataxia, Gait disturbance, Diffic... ORPHA:98764
Developmental And Epileptic Encephalopathy 53
Myoclonic seizure, Seizure, Spastic tetraplegia, Hypsarrhythmia, Tonic seizure, Bilateral tonic-c... OMIM:617389
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Myoclonic seizure, Seizure, EEG abnormality, Generalized myoclonic seizure, Ataxia, ... OMIM:617831
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure with focal onset, Seizu... OMIM:245570
Epilepsy, Progressive Myoclonic, 11
Seizure, Rigidity, Myoclonus, Ataxia, Giant somatosensory evoked potentials, Intention tremor OMIM:618876
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus... OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Myoclonus, Seizure, EEG abnormality OMIM:600143
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Hypsarrhythmia, Type I diabet... OMIM:618856
Creutzfeldt-Jakob Disease
Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment OMIM:123400
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, EEG abnormality OMIM:617643
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus, EEG abnormality, Involuntary movements OMIM:617171
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, EEG with generalized epileptiform disch... ORPHA:163721
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Atonic seizure, Kinetic tremor, Involuntary movements OMIM:611092
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... OMIM:616056
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... ORPHA:101046
Lennox-Gastaut Syndrome
Generalized tonic seizure, EEG abnormality, Focal-onset seizure, Myoclonus, Generalized myoclonic... ORPHA:2382
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... OMIM:613855
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Atonic s... OMIM:614018
Centralopathic Epilepsy
EEG with centrotemporal focal spike waves, Nocturnal seizures, Bilateral tonic-clonic seizure wit... OMIM:117100
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG abnormality OMIM:610003
Epilepsy, Pyridoxine-Dependent
EEG with burst suppression, Generalized myoclonic seizure, Status epilepticus, Clonic seizure, Bi... OMIM:266100
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia ORPHA:22
Early Myoclonic Encephalopathy
Focal motor seizure, EEG abnormality, Focal seizure with eyelid myoclonia, Hypsarrhythmia, Myoclo... ORPHA:1935
Epilepsy, Progressive Myoclonic, 8
Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Bilateral tonic-clonic seizure, EEG with... OMIM:616230
Hypokalemic Periodic Paralysis
Respiratory paralysis, Exercise-induced muscle fatigue, Paralysis, Myotonia, Postprandial hypergl... ORPHA:681
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Inappropriate behavior, Cognitive impairment, Ataxia, Depression, Anxiety, Memory impairment ORPHA:401901
Epilepsy, Progressive Myoclonic, 12
Anxiety, Ataxia, Dysmetria, Difficulty walking, Depression, Mental deterioration OMIM:619191
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Hypsarrhythmia, Interictal EEG abnormality, Multifocal epileptiform discharg... ORPHA:98820
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... ORPHA:1941
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Short Stature Due To Partial Ghr Deficiency
Short stature, Delayed puberty, Decreased serum insulin-like growth factor 1, Hypoglycemia, Growt... ORPHA:314802
Panic Disorder 1
Anxiety OMIM:167870
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Abnormal nervous system electrophysiology, Seizure, Myoclonus OMIM:204500
Huntington Disease-Like 1
Chorea, Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait OMIM:603218
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... OMIM:600669
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Huntington Disease-Like 2
Chorea, Inertia, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, Memor... OMIM:606438
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic... OMIM:616540
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Dementia, Anxiety ORPHA:494541
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Short stature, Impaired growth-hormone response to insulin stimulation test, Adre... OMIM:262700
Hemimegalencephaly
Seizure, Focal motor seizure, EEG with polyspike wave complexes, EEG with burst suppression, EEG ... ORPHA:99802
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, EEG abnormality, Hypsarrhythmia, Myoclonus, Status epilepticus, Hyperkinetic... OMIM:618285
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Chorea, EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Multifoc... OMIM:619317
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Benign Familial Neonatal Epilepsy
Limb myoclonus, Generalized tonic seizure, Increased theta frequency activity in EEG, Focal-onset... ORPHA:1949
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal aware sensory seizure with a... OMIM:616461
Developmental And Epileptic Encephalopathy 59
Hypsarrhythmia, Multifocal epileptiform discharges, Focal clonic seizure, Ataxia, Tonic seizure, ... OMIM:617904
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Developmental And Epileptic Encephalopathy 42
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-c... OMIM:617106
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Myoclonic Epilepsy Of Infancy
Poor hand-eye coordination, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... ORPHA:86909
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... OMIM:204300
Unilateral Hemispheric Polymicrogyria
Hemiparesis, Focal-onset seizure, Generalized myoclonic seizure, Focal atonic seizure, Bilateral ... ORPHA:101071
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure OMIM:616341
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Sync... ORPHA:324575
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... ORPHA:263516
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Hypsarrhythmia, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Infant... OMIM:617113
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Severe short stature, Decreased serum insulin-l... OMIM:262400
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... ORPHA:307
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Short stature, Hypogonadism, Ataxia, Hypoglycemia, Postnatal growth retar... OMIM:616113
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... OMIM:607208
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... OMIM:607876
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Dravet Syndrome
Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons... ORPHA:33069
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Seizure, Diabetic ketoacidosis, Maternal di... ORPHA:99886
Developmental And Epileptic Encephalopathy 32
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... OMIM:616366
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Focal hemiclonic seizure, Bilateral ton... OMIM:616981
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Hypsarrhythmia, Incoordination, Bilateral to... OMIM:616409
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic s... OMIM:618141
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... ORPHA:171706
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, EEG abnormality, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia,... OMIM:606777
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-clonic se... OMIM:607631
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure OMIM:612437
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Seizure, Type II diabetes mellitus, Hand tremor, Hyperinsulinemic hypog... ORPHA:79299
Landau-Kleffner Syndrome
Gait ataxia, Generalized clonic seizure, EEG with generalized epileptiform discharges, Seizure, F... ORPHA:98818
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... OMIM:609968
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:607681
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized-onset seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-cloni... ORPHA:79137
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... OMIM:615362
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Ge... ORPHA:352596
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure with focal onset, EEG with burst suppression, Focal-onset seizure,... OMIM:619605
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... OMIM:619000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Manganese Poisoning
Aggressive behavior, Akinesia, Hypersexuality, Gait disturbance, Emotional lability, Inappropriat... ORPHA:306682
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Maternal diabetes, Type I diabetes mellitus,... ORPHA:276580
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins... OMIM:607317
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Spasticity, Extrapyramidal dyskinesia, Seizure, EEG abnormality, Hemiparesis, Apraxia, My... ORPHA:71277
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Hypsarrhythmia, Myoclonus, Choreoathetosis, Spastic tetraparesis OMIM:617065
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus, Focal tonic seizure, Interictal epileptiform activity, Hypertonia, Limb tremor OMIM:300699
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, EEG abnormality, Myoclonus, Ataxia OMIM:617829
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Hyperinsulinemic h... ORPHA:276575
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... OMIM:618396
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Persistent Idiopathic Facial Pain
Somatic sensory dysfunction, Paresthesia, Impaired pain sensation, Depression, Anxiety ORPHA:398147
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Limb ataxia, Upper motor neuron ... ORPHA:95434
Generalized Epilepsy With Febrile Seizures-Plus
Poor fine motor coordination, Febrile seizure (within the age range of 3 months to 6 years), Gene... ORPHA:36387
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... OMIM:601764
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Increased body weight, Hyperinsulinemi... ORPHA:276608
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Salt And Pepper Developmental Regression Syndrome
Multifocal epileptiform discharges, Choreoathetosis, Status epilepticus, Myoclonus, Bilateral ton... OMIM:609056
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Inertia, Falls, Shuffling gait, Motor deteriorat... ORPHA:412066
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Epilepsy, Early-Onset, Vitamin B6-Dependent
Myoclonic seizure, EEG with burst suppression, Myoclonus, Clonic seizure, Tonic seizure, Bilatera... OMIM:617290
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia OMIM:125370
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par... OMIM:605407
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Abnormal nervous system el... OMIM:256731
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the face, Myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Percussion m... ORPHA:684
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Syncope, Large for gestational age, Hyperinsulinemic hypoglycemia, Diff... ORPHA:276556
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure,... OMIM:617836
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Seizure, Myoclonus, Hypertonia OMIM:610090
Epilepsy, Familial Temporal Lobe, 3
Bilateral tonic-clonic seizure with focal onset, Deja vu aura, Focal impaired awareness seizure OMIM:611630
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Epileptic spasm, Spastic tetraplegia, EEG with polyspike wave complexes, EEG w... OMIM:619913
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Insulin Autoimmune Syndrome
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... ORPHA:411593
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Myoclonus, Tremor, Frequent falls OMIM:619647
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Seizure, Spastic tetraplegia, EEG with burst suppression, Myoclonus, Ataxia, E... OMIM:619971
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:314250
Hypoglycemia, Leucine-Induced
Spasticity, Seizure, Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, EEG with generalized epileptiform discharges, Hyperinsulinemic hypogly... ORPHA:35878
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Generalized myoclonic seizure, Myoclonus, Ataxia OMIM:545000
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Hypsarrhythmia, Generalized myoclonic-atonic seizure, Status epilepticus, Ataxia, Bil... OMIM:619701
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Clumsiness, Myoclonus, Genera... ORPHA:2590
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Combined Saposin Deficiency
Generalized clonic seizure, Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations OMIM:611721
Myoclonus-Dystonia Syndrome
Limb myoclonus, Spinal myoclonus, Torticollis, Myoclonus ORPHA:36899
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Spasticity, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptif... OMIM:617711
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Bilateral tonic-clonic seizure, Seizure prec... ORPHA:363549
Episodic Ataxia, Type 9
Seizure, Status epilepticus, Episodic ataxia, Clonic seizure, Tonic seizure, Bilateral tonic-clon... OMIM:618924
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spast... OMIM:614322
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia, Hepatomegaly, Progressive cerebellar ataxia ORPHA:67046
Developmental And Epileptic Encephalopathy 99
Focal-onset seizure, Eyelid myoclonus, Multifocal epileptiform discharges, Status epilepticus, Fo... OMIM:619606
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
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
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Unilateral Focal Polymicrogyria
Poor fine motor coordination, EEG with central focal spikes, Bilateral tonic-clonic seizure with ... ORPHA:268947
Obesity Due To Sim1 Deficiency
Hypotension, Hyperinsulinemia, Increased resting energy expenditure, Short stature, Polyphagia, A... ORPHA:369873
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Dementia, Dysmetria, Depression, Anxiety, Progressive cerebellar ataxia OMIM:604326
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Gait ataxia, Spasticity, EEG abnormality, Apraxia, Bilateral tonic-clonic seiz... OMIM:617810
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
EEG with spike-wave complexes (>3.5 Hz), Seizure, Paroxysmal dyskinesia, Generalized non-motor (a... OMIM:609446
Perry Syndrome
Inappropriate behavior, Frontotemporal dementia, Suicidal ideation, Akinesia, Apathy, Short stepp... OMIM:168605
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Seizure, Exercise-induced muscle fatigue, Truncal ataxia, Hyperkinetic movements ORPHA:369847
Spinocerebellar Ataxia 21
Gait ataxia, Aggressive behavior, Cognitive impairment, Akinesia, Apathy, Limb ataxia, Ataxia, Me... OMIM:607454
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Myoclonic Epilepsy, Familial Infantile
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... OMIM:605021
Developmental And Epileptic Encephalopathy 90
Hypothyroidism, Ankle clonus, Limb hypertonia, EEG with burst suppression, Hypsarrhythmia, Focal-... OMIM:301058
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Hypothyroidism, Spasticity, Seizure, EEG abnormality, Status epilepticus, Bilateral tonic... OMIM:613970
Isolated Focal Cortical Dysplasia
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Seizure, Focal-onset ... ORPHA:65683
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Episodic quadriplegia OMIM:104290
Developmental And Epileptic Encephalopathy 23
Hypsarrhythmia, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal i... OMIM:615859
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Hypoglycemia, Intrauterine growth retardation OMIM:223500
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Focal-onset seizure, Interictal epileptiform activity, Bilateral toni... OMIM:619157
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Sudden death, Hepatomegaly, Cardiomyopathy OMIM:609016
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... OMIM:612691
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Short stature, Type II diabetes mellitus, Insulin resistance, F... ORPHA:181393
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Myoclonus OMIM:619303
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Abnormal pyramidal sig... OMIM:617350
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Generalized-onset seizure, Generalized tonic seizure, Seizure, EEG with genera... OMIM:617976
Cerebral Creatine Deficiency Syndrome 2
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Paraparesis, My... OMIM:612736
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:616172
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Truncal ataxia, Generalized m... OMIM:611726
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Focal-onset seizure, Myoclonus, Choreoathetosis, Paraparesis,... ORPHA:726
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Tremor, Atonic... OMIM:616421
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Gait ataxia, Spasticity, Typical absence seizure, Myoclonus, Focal hemiclonic ... OMIM:620145
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Mitochondrial Complex I Deficiency, Nuclear Type 12
Seizure, Myoclonus, Choreoathetosis, Generalized myoclonic seizure, Ataxia, Bilateral tonic-cloni... OMIM:301020
Neurodegeneration With Brain Iron Accumulation 5
Aggressive behavior, Akinesia, Anxiety, Dementia, Mental deterioration, Bradykinesia OMIM:300894
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Myoclonus, Choreoathetosis, Tonic seizure, Bilateral tonic-clonic sei... OMIM:618497
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Lower limb spasticity OMIM:619639
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, EEG with generalized slow activity grade 4, Gen... ORPHA:79263
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Geniospasm 1
Chin myoclonus OMIM:190100
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Myoclonic seizure, Chorea, Spasticity, Seizure, EEG abnormality, Myoclonus, Focal impaired awaren... OMIM:614254
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609253
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Spasticity, Seizure, Focal-onset seizure, Hypsarrhythmia, Ataxia, Bilateral to... OMIM:226750
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Abnormal pyramidal sign, Seizure, Focal-onset se... OMIM:616645
Guanidinoacetate Methyltransferase Deficiency
Chorea, Seizure, Abnormality of extrapyramidal motor function, Generalized myoclonic seizure, Ata... ORPHA:382
Neurodevelopmental Disorder With Involuntary Movements
Chorea, Spasticity, Multifocal epileptiform discharges, Bilateral tonic-clonic seizure, Focal imp... OMIM:617493
Peho-Like Syndrome
Hypsarrhythmia, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus OMIM:617507
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tremor, Tetraparesis OMIM:615924
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Interictal EEG abnormali... ORPHA:352582
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... ORPHA:289266
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, EEG abnormality, Dysdiadochokinesis, Spastic dysarthria, Oculomotor apraxia, Myoclonu... ORPHA:313772
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Seizure, EEG abnormality, Myoclonus, Ataxia OMIM:256730
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus OMIM:159900
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:616685
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Anxiety, Apathy, Depression, Mental deterioration, Memory impairment, Bradykinesia ORPHA:240085
Phosphoserine Aminotransferase Deficiency
Myoclonus, Seizure, Hypertonia OMIM:610992
Striatonigral Degeneration, Infantile, Mitochondrial
Chorea, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Frequent falls, Clonus... OMIM:500003
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Dementia, Depression, Anxiety OMIM:605909
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Succinic Semialdehyde Dehydrogenase Deficiency
Seizure, EEG abnormality, Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral to... OMIM:271980
Developmental And Epileptic Encephalopathy 1
Erratic myoclonus, Abnormal pyramidal sign, Focal motor seizure, EEG with burst suppression, Hyps... OMIM:308350
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Seizure, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired aware... ORPHA:208441
Dystonia 23
Torticollis, Head tremor, Myoclonus OMIM:614860
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613863
Myotonia Congenita, Autosomal Dominant
Myotonia, Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:160800
Developmental And Epileptic Encephalopathy 16
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus OMIM:615338
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Bilateral tonic-clonic seizure OMIM:619065
Developmental And Epileptic Encephalopathy 49
Spasticity, Seizure, EEG abnormality, Myoclonus OMIM:617281
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-... ORPHA:330050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Failure to thrive in infancy, Pos... OMIM:232700
Rasmussen Subacute Encephalitis
Bilateral tonic-clonic seizure with focal onset, Epilepsia partialis continua, Epileptic spasm, G... ORPHA:1929
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity, Bilateral tonic-clonic seizure with ... OMIM:619028
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Spastic tetraplegia, EEG with burst suppression, Hypsarrhythmia, Gener... OMIM:612164
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Choreoathetosis, Tremor, Hypertonia OMIM:261630
Dystonia 12
Emotional lability, Depression, Anxiety, Unsteady gait, Bradykinesia OMIM:128235
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Seizure, EEG abnormality, Apraxia, Myoclonus, Babinski sign OMIM:618193
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Ataxia, Dysmetria, Depression, Anxiety, Mental deterioration, Irritability OMIM:618093
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... OMIM:620115
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Spasticity, Generalized tonic seizure, EEG abnormality, Hypsarrhythmia, Focal ... OMIM:617105
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Hype... OMIM:619301
Hyperekplexia 4
Hypsarrhythmia, Myoclonus, Seizure, Hypertonia OMIM:618011
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Seizure, EEG abnormality, Hemiparesis, Spastic tetraparesis, Bilateral... OMIM:604317
Lissencephaly 3
Generalized tonic seizure, Seizure, Spastic tetraplegia, Ataxia, Bilateral tonic-clonic seizure OMIM:611603
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb hypertonia, Fr... ORPHA:254343
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Seizure, Myoclonus, Status epilepticus, Clonic s... OMIM:610539
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Seizure, Parkinsonism, Rigidity, Apraxia, Babinski sign, Slurred speech, Bilateral to... OMIM:300423
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal aware seizure, Bilateral ton... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
Clcn4-Related X-Linked Intellectual Disability Syndrome
Chorea, Seizure, EEG with focal spikes, Upper limb spasticity, Myoclonus, Focal tonic seizure, Bi... ORPHA:485350
Mehmo Syndrome
Gait ataxia, Decreased response to growth hormone stimulation test, Birth length less than 3rd pe... OMIM:300148
Pontocerebellar Hypoplasia Type 4
Myoclonus, Seizure, Hypertonia ORPHA:166063
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Insulinoma
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cel... ORPHA:97279
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Abnormal pyramidal sign, Spasticity, Seizure, Myoclonus, Insulin r... ORPHA:363400
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus, Bilateral tonic-c... OMIM:204200
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Spasticity, Generalized-onset seizure, Generalized tonic s... ORPHA:208447
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Spinocerebellar Ataxia Type 14
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98763
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure, Hype... OMIM:619302
Developmental And Epileptic Encephalopathy 47
EEG abnormality, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Limb at... OMIM:617166
Congenital Disorder Of Glycosylation, Type Iaa
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Status epilepticus, Appendicular spasticity OMIM:617082
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor OMIM:619651
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment, Akinesia ORPHA:98773
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Limb myoclonus, Abnormal nerve conduction velocity, Postural tremor, Torticollis, Li... OMIM:619862
Corticobasal Syndrome
Somatic sensory dysfunction, Akinesia, Gait disturbance, Dementia, Memory impairment, Bradykinesia ORPHA:454887
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo... OMIM:612016
Brody Disease
Myotonia, Percussion myotonia, Fasciculations OMIM:601003
Epilepsy, Familial Focal, With Variable Foci 4
Focal-onset seizure, Clonic seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Foca... OMIM:617935
Pyridoxine-Dependent Epilepsy
EEG with generalized epileptiform discharges, EEG with burst suppression, Hypsarrhythmia, Multifo... ORPHA:3006
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Abnormality of peripheral nerve conduction, Short stature, Long eyelashe... ORPHA:48431
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Spastic paraplegia, Bilateral tonic-clonic seizure, Lower limb sp... ORPHA:100988
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Bilateral tonic-cl... ORPHA:53583
Post-Traumatic Pituitary Deficiency
Hypotension, Abnormality of secondary sexual hair, Decreased response to growth hormone stimulati... ORPHA:95619
Congenital Disorder Of Glycosylation, Type In
Spasticity, Seizure, Ataxia, Myoclonus OMIM:612015
Xp21 Deletion Syndrome
Spasticity, Seizure, Adrenal insufficiency, Primary adrenal insufficiency, Increased muscle fatig... ORPHA:261476
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Spasticity, Seizure, Spastic tetraplegia, Focal-onset seizure, Spastic hemipar... OMIM:619616
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... OMIM:617924
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Cortical myoclonus, EEG with generalized slow activity grade 4, Spasticity, EE... ORPHA:168491
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Convulsive status epilepticus, Focal-onset seizure, EEG abnormality OMIM:618760
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Atonic seizure, Seizure OMIM:309530
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c OMIM:610582
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Rigidity, Generalized myoclonic seizure, Tonic seizure, Dysmetria, Tremor, Bilateral... OMIM:618090
Spinocerebellar Ataxia 19
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Progress... OMIM:607346
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Generalized myoclo... OMIM:614487
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... ORPHA:293964
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Bilateral tonic-clonic seizure, Hand tremor OMIM:617862
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Chorea, Seizure, Rigidity, Hypsarrhythmia, Abnormality of extrapyramidal motor function, Choreoat... ORPHA:13
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Postexertional symptom exacerbation, Short stature, Hepatocellular c... ORPHA:369
Pyridoxal Phosphate-Responsive Seizures
Seizure, EEG with burst suppression, Myoclonus, Status epilepticus, Hypoglycemia, Hypertonia ORPHA:79096
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Short stature ORPHA:366
Mitochondrial Complex I Deficiency, Nuclear Type 19
Seizure, Rigidity, Myoclonus, Hypoglycemia, Athetosis OMIM:618241
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Generalized myoclonic seizure, Myoclonus, Tremor, Frequent falls, Tong... OMIM:159950
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Glucocorticoid Resistance, Generalized
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... OMIM:615962
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Falls, Akinesia, Short stepped shuffling gait, Freezing of gait, Dementia, Loss o... ORPHA:240094
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Thyrocerebrorenal Syndrome
Seizure, Myoclonus, Slurred speech, Euthyroid goiter, Nonprogressive cerebellar ataxia ORPHA:3327
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Precocious puberty, Short stature, Diabetic ketoacidosis, Small for gestational... OMIM:262190
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure with focal onset, EEG with occipital epileptiform discharges, Seiz... OMIM:619428
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, Myoclonic seizure, Bilateral tonic-clonic seizure with ... ORPHA:363558
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:615697
D-Glyceric Aciduria
Spasticity, Seizure, Spastic tetraplegia, Hypsarrhythmia, Myoclonus, Focal clonic seizure, Status... OMIM:220120
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c, Type I diabetes mellitus OMIM:606176
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Myoclonus, Hypertonia OMIM:225753
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Ankle clonus, Postural tremor, Myotonia, Ataxia, Babinski sign, Spastic paraplegia... OMIM:615491
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Chorea, Cerebral palsy, Myoclonus, Neonatal hypoglycemia, Bilateral tonic-clon... OMIM:617600
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Spastic gait, Parkinsonism, Myoclonus, Ataxia, Lower limb spasticity ORPHA:306511
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hyperhidrosis, Decreased body weight, Short stature, Small for gestational age, Neonatal hypoglyc... ORPHA:231140
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue ORPHA:45
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Gait ataxia, Ataxia, Increased muscle fatiguability OMIM:613077
Myotonia Congenita, Autosomal Recessive
Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs OMIM:255700
Kufor-Rakeb Syndrome
Aggressive behavior, Akinesia, Gait disturbance, Dementia, Ataxia, Distal sensory impairment, Bra... OMIM:606693
Hsd10 Disease
Seizure, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Spastic paraparesis, Tremor ORPHA:391417
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Posterior Cortical Atrophy
Memory impairment, Inertia, Ataxia, Anxiety ORPHA:54247
Thyrotoxic Periodic Paralysis
Abnormality of peripheral nerve conduction, Hyperthyroidism, Thyrotoxicosis with toxic single thy... ORPHA:79102
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Gait ataxia, Spasticity, Seizure, EEG abnormality, Oculomotor apraxia, Status epilepticus, Dysmet... ORPHA:529665
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterioration, Dem... ORPHA:168782
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Dy... OMIM:607136
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
EEG abnormality, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Abnormal pe... ORPHA:457205
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency