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
abnormal ear morphology Kcnj11tm1b(EUCOMM)Wtsi HOM   Early adult 5.60×10-05
impaired glucose tolerance Kcnj11tm1b(EUCOMM)Wtsi HOM Early adult 3.85×10-20
decreased fasting circulating glucose level Kcnj11tm1b(EUCOMM)Wtsi HOM Early adult 7.98×10-07
decreased hemoglobin content Kcnj11tm1b(EUCOMM)Wtsi HOM Early adult 9.18×10-11

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

14 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 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 predicted to be associated to Kcnj11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex, Myoclonus, Jerk-loc... OMIM:615127
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Giant somatosensory ev... OMIM:601068
Persistent Idiopathic Facial Pain
Paresthesia, Depression, Somatic sensory dysfunction, Anxiety, Impaired pain sensation ORPHA:398147
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Focal-onset seizure, Bilateral tonic-clonic seizure, G... OMIM:613608
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Infantile Spasms Syndrome
Infantile spasms, Myoclonus, Hypsarrhythmia ORPHA:3451
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:614417
Continuous Spikes And Waves During Sleep
Clumsiness, Speech apraxia, EEG with generalized polyspikes, Atonic seizure, Focal-onset seizure,... ORPHA:725
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Short Stature Due To Ghsr Deficiency
Abdominal pain, Decreased serum insulin-like growth factor 1, Growth delay, Abnormality of body w... ORPHA:314811
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Normal in... ORPHA:306
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... ORPHA:308
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Bilateral tonic-clonic seizure, Status epilepticus, Generalized ... OMIM:254770
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), EEG with generalized spikes, Visua... OMIM:615369
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:616056
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, EEG with spike-wave complexes, Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizu... OMIM:618587
Developmental And Epileptic Encephalopathy 40
Hypsarrhythmia, Seizure, Myoclonus, Choreoathetosis, Spasticity OMIM:617065
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Bilateral tonic-clonic seizure, Myoclonic seizure, Type I diabetes mellitus, Bila... OMIM:618856
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes,... OMIM:254800
Pyridoxine-Dependent Epilepsy
Hypsarrhythmia, Atonic seizure, Focal-onset seizure, EEG with burst suppression, Bilateral tonic-... ORPHA:3006
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, EEG abnormality, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Focal-onset seizure, Bilateral tonic-clonic seizure, Inte... ORPHA:101046
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, EEG abnormality, Myoclonus, Hand tremor, Generalized-onset seizure ORPHA:86814
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Epilepsy, Progressive Myoclonic, 11
Ataxia, Seizure, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Rigidity OMIM:618876
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, EEG abnormality, Myoclonus, Ataxia OMIM:600143
Chorea, Benign Hereditary
Chorea, Gait disturbance, Anxiety OMIM:118700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Wolfram-Like Syndrome, Autosomal Dominant
Hearing impairment, Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-mo... ORPHA:139426
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Depression, Chorea, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memo... ORPHA:401901
Cortical Malformations, Occipital
EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Speech apraxia, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, EE... ORPHA:163721
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Bilateral tonic-clonic seizure, Seizure, Stereotypy, Generalized myoclonic seizure OMIM:616341
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Early Myoclonic Encephalopathy
Hypsarrhythmia, Focal tonic seizure, EEG abnormality, Myoclonus, Focal motor seizure, Focal seizu... ORPHA:1935
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Hypsarrhythmia, EEG with focal epileptiform discharges, Focal-onset s... ORPHA:98820
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... ORPHA:2382
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Chorea, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... OMIM:607682
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, EEG with spike-wave complexes (>3... OMIM:609446
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Abnormal nervous system electrophysiology, Myoclonus, Ataxia OMIM:204500
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:600669
Creutzfeldt-Jakob Disease
Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Centralopathic Epilepsy
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... OMIM:117100
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, Focal-onset s... OMIM:608105
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Hypertonia, Ataxia, Seizure, Myoclonus OMIM:612736
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Huntington Disease-Like 1
Aggressive behavior, Dementia, Depression, Chorea, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Hemimegalencephaly
Interictal EEG abnormality, Hemihypsarrhythmia, Atonic seizure, EEG with burst suppression, Hemip... ORPHA:99802
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:1941
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Growth delay, Hypoglycemia, Delayed puberty, Short ... ORPHA:314802
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Ataxia, Hypoglycemia, Postnatal growth retardation, Short statu... OMIM:616113
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure OMIM:208700
Developmental And Epileptic Encephalopathy 6B
EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Chorea, Hyperkinetic movements, Myo... OMIM:619317
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Torticollis OMIM:618425
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Developmental And Epileptic Encephalopathy 69
Hypsarrhythmia, Hyperkinetic movements, Status epilepticus, EEG abnormality, Myoclonus, Spastic t... OMIM:618285
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Landau-Kleffner Syndrome
Generalized clonic seizure, EEG with frontal focal spikes, EEG with temporal focal spikes, Interi... ORPHA:98818
Mental Retardation, Autosomal Recessive 6
Seizure, Tremor, Involuntary movements, Myoclonus OMIM:611092
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia,... OMIM:607876
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Short stature, Impaired ... OMIM:262700
Unilateral Hemispheric Polymicrogyria
EEG with focal epileptiform discharges, Focal-onset seizure, Hemiparesis, Bilateral tonic-clonic ... ORPHA:101071
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Abnormal pyramidal sign, Bi... OMIM:607208
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... ORPHA:263516
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Glut1 Deficiency Syndrome 1
Hemiparesis, Ataxia, Paralysis, Seizure, EEG abnormality, Myoclonus, Babinski sign, Choreoathetos... OMIM:606777
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes, Myo... OMIM:619000
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:613721
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Benign Familial Neonatal Epilepsy
Focal EEG discharges with secondary generalization, Generalized tonic seizure, Focal-onset seizur... ORPHA:1949
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Chorea, Paroxysmal dyskinesia, Bilateral tonic-clonic se... ORPHA:79137
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
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:607631
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Seizure, Hypoinsulinemia... ORPHA:99886
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia, EEG abno... OMIM:617836
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Hypoglycemia, Pituitary dwarfism, Impaired growth-hormone response to insul... OMIM:262400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Lethargy, Hyperinsulinemic hypoglycemi... ORPHA:276575
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Fatigue, Recurrent hypoglycemia, Hypoglycemia,... ORPHA:263458
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Chorea, Apathy, Anxiety, Cognitive impairment, Athetosis OMIM:615483
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes, Tre... ORPHA:36387
Dravet Syndrome
Photosensitive myoclonic seizure, Poor fine motor coordination, Focal hemiclonic seizure, Interic... ORPHA:33069
Developmental And Epileptic Encephalopathy 92
Ataxia, Seizure, EEG abnormality, Myoclonus, Spasticity OMIM:617829
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Seizure, Abnormal nervous system electrophysiology, Myocl... OMIM:256731
Epilepsy, Progressive Myoclonic 7
Seizure, Tremor, Myoclonus, Ataxia OMIM:616187
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse... ORPHA:276556
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Status epilepticus, Seizure, EEG abn... ORPHA:71277
Myoclonus, Familial, 1
Frequent falls, Myoclonus, Ataxia OMIM:614937
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Multifocal epileptiform discharges, Myoclonus... OMIM:609056
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hand tremor, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Sei... ORPHA:79299
Dentatorubral-Pallidoluysian Atrophy
Chorea, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus, Choreoathetosis OMIM:125370
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Seizure, Parkinsonism, Myoclonus OMIM:162350
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Hyperkinetic movements, Seizure, Myoclonus, Rigidity, Spasticity OMIM:616981
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Hemiparesis, S... ORPHA:352596
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Tetraplegia, Choreoat... OMIM:104290
Episodic Ataxia, Type 9
Episodic ataxia, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Ton... OMIM:618924
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypo... ORPHA:276608
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Pandas
Claustrophobia, Depression, Chorea, Agoraphobia, Emotional lability, Separation insecurity, Impul... ORPHA:66624
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Developmental And Epileptic Encephalopathy 1
Hypsarrhythmia, Erratic myoclonus, Focal-onset seizure, Hypertonia, EEG with burst suppression, A... OMIM:308350
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Ceroid Lipofuscinosis, Neuronal, 4A (Kufs Type), Autosomal Recessive
Seizure, Myoclonus, Ataxia, Abnormality of extrapyramidal motor function OMIM:204300
Polymyoclonus, Infantile
Irritability, Ataxia OMIM:263550
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Bradykinesia, Anxiety OMIM:605909
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus, Generalized myoclonic seizure OMIM:220300
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... ORPHA:95434
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Increased circulating procalcitonin concentration, Bil... ORPHA:363549
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Hypertonia, Myoclonus, Hypoglycemia OMIM:610090
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Progressive cerebellar ataxia, Anxiety,... OMIM:604326
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Adrenocortical adenoma, Postprandial hyperglycemia, Exercise-induce... ORPHA:681
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:266100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Clumsiness, Atonic seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizure wit... ORPHA:2590
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Myoclonus, Babinski sign OMIM:615362
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... OMIM:601764
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Myotonia of the face, Percussion myotonia, Handgrip myotonia, Myoto... ORPHA:684
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Hyperkinetic movements, Seizure, EEG abnormality, Myoclonus, Spasticity OMIM:614254
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, EEG with temporal focal spikes, EE... ORPHA:268947
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
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
Epilepsy, Progressive Myoclonic, 9
Seizure, Status epilepticus, Myoclonus, Gait ataxia OMIM:616540
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic sta... OMIM:611726
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Seizure precipitated by febrile infection, Interictal EEG abnormal... ORPHA:363558
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Seizure, G... OMIM:619157
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, Clumsiness, Focal-onset seizure, Blepharospasm, Bilateral tonic-cloni... ORPHA:352582
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia, Seizure, Spasticity OMIM:240800
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis, Anxiety OMIM:602066
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Focal-onset seizure, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, My... ORPHA:726
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Hypergonadotropic hypogonadism, Bilateral tonic-clonic seizure OMIM:601217
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Unsteady gait, Torticollis, Anxiety OMIM:128235
Seizures, Benign Familial Infantile, 3
Focal-onset seizure, Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:607745
Developmental And Epileptic Encephalopathy 90
Hypsarrhythmia, Focal-onset seizure, Hypothyroidism, EEG with burst suppression, Bilateral tonic-... OMIM:301058
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Congenital Disorder Of Glycosylation, Type Im
Hypsarrhythmia, Hypoketotic hypoglycemia, Sparse and thin eyebrow, Failure to thrive, Dilated car... OMIM:610768
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
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Generalized non-motor (absence) seizure, Reactive hypoglycemia, Fa... ORPHA:35878
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Epilepsy, Progressive Myoclonic, 6
Tremor, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:614018
Combined Saposin Deficiency
Generalized clonic seizure, Hyperkinetic movements, Myoclonus, Babinski sign, Fasciculations OMIM:611721
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Generalized tonic seizure, Tremor, Hypsarrhythmia, EEG with burst suppression... OMIM:612164
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Truncal ataxia, Chorea, Hyperkinetic movements, Exercise-induced muscle fatigue, Seizure ORPHA:369847
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, Generalized n... OMIM:271980
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
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, EEG wit... ORPHA:289266
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Interictal EEG abnormality, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Sei... ORPHA:79263
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Seizure, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls, Generalized-on... OMIM:159950
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... ORPHA:181393
3-Methylglutaconic Aciduria Type 1
Dystonia, Hypoglycemia, Hepatomegaly, Progressive cerebellar ataxia, Failure to thrive ORPHA:67046
Isolated Focal Cortical Dysplasia
Focal-onset seizure, Hemiparesis, Seizure, Infantile spasms, Focal impaired awareness seizure, Bi... ORPHA:65683
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Sudden death, Cardiomyopathy, Hypoglycemia OMIM:609016
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Seizure, Hyperkinetic movements, Choreoathetosis, Myoclonus OMIM:618497
Epilepsy, Early-Onset, Vitamin B6-Dependent
Seizure, Clonus, Hypertonia, Myoclonus OMIM:617290
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Myoclonus OMIM:619303
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Spastic paraparesis, Spastic dysarthria, Oculomotor apraxia, Bilateral tonic-... ORPHA:313772
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Seizure, Myoclonus, Choreoathetosis OMIM:261630
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Seizure, Myoclonus, Spasticity OMIM:615924
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Craniofacial dystonia, Bradykinesia, Emotional lability, Torticollis, An... ORPHA:71517
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Anxiety ORPHA:494541
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Seizure, EEG abnormality, Myoclonus, Spasticity OMIM:256730
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Spastic diplegia, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Babinski sign OMIM:619065
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Seizure, Spasticity, Myoclonus, Hypsarrhythmia OMIM:617669
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Geniospasm 1
Chin myoclonus OMIM:190100
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Action tremor, Bilateral tonic-clonic seizure, Bradykinesia, Parkinsonism, Babinski sign OMIM:300423
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Myoclonus OMIM:610539
Insulinoma
Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Hyperinsulinemia, Fasting hype... ORPHA:97279
Developmental And Epileptic Encephalopathy 49
Seizure, EEG abnormality, Myoclonus, Spasticity OMIM:617281
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Spasticity OMIM:616281
Glut1 Deficiency Syndrome 2
Dystonia, Ataxia, Irritability, Cognitive impairment, Choreoathetosis OMIM:612126
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Depression, Chorea, Ataxia, Irritability, Anxiety, Dysmetria, Mental deter... OMIM:618093
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure... ORPHA:208441
Rasmussen Subacute Encephalitis
Generalized tonic seizure, EEG with focal epileptiform discharges, Focal-onset seizure, Generaliz... ORPHA:1929
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Frontotemporal dementia, In... OMIM:600274
Myotonia Congenita, Autosomal Dominant
Percussion myotonia, Handgrip myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up pheno... OMIM:160800
Peho-Like Syndrome
Status epilepticus, Seizure, Myoclonus, Hypsarrhythmia OMIM:617507
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Abnormal pyramidal sign, Focal hemiclonic seizure, Seizure, Status epileptic... OMIM:616645
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, EEG with spike-wave complexes, EEG with series of focal spikes, EEG with phot... ORPHA:168491
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Frequent falls OMIM:616921
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Aggressive behavior, Chorea, Ataxia, Irritability, Chore... ORPHA:98811
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypoglycemia, Hepatomegaly, Failure to thrive in infancy, Increased... OMIM:232700
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Ataxia, Myoclonus, Involuntary movements, Spasticity OMIM:617282
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Tremor, Focal-onset seizure, Delayed menarche, Bilateral tonic-clonic seizure, Status epilepticus... ORPHA:330050
Bilateral Generalized Polymicrogyria
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:208447
Autosomal Dominant Non-Syndromic Intellectual Disability
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:178469
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Myo... OMIM:619028
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Apraxia, Seizure, EEG abnormality, Myoclonus, Babinski sign OMIM:618193
Dystonia 23
Head tremor, Torticollis, Myoclonus OMIM:614860
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Hyperekplexia 4
Seizure, Hypertonia, Myoclonus, Hypsarrhythmia OMIM:618011
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paroxysmal dyskinesia, Abnormal pyramidal sign, Bilateral to... ORPHA:53583
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Bilateral tonic-clonic seizure, Lower limb spasticity, Babin... ORPHA:100988
Developmental And Epileptic Encephalopathy 16
Status epilepticus, Hemiparesis, Myoclonus, Abnormality of extrapyramidal motor function OMIM:615338
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Limb dysmetria, Myoclonus ORPHA:363710
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus OMIM:612016
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Focal-onset seizure, Chorea, EEG abnormality, Stereotypical hand w... OMIM:618760
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Hypertonia, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic tetra... OMIM:619301
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Arrhythmia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypertrophic ca... OMIM:614702
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Focal-onset seizure, ... OMIM:618917
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Oculomotor apraxia, Bilateral tonic-clonic seizure, Status epilepticus, Seiz... ORPHA:529665
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Intention tremor, Ataxia, Seizure, Myoclonus, Dysmetria, Decrease... OMIM:618356
Mehmo Syndrome
Inability to walk, Gait ataxia, Male hypogonadism, Difficulty walking, Hypoglycemia, Obesity, Del... OMIM:300148
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Poor motor coordination, Abnormal pyra... ORPHA:363400
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Choreoathetosis, Abnormality of extrapyramidal motor function, Hypsarrhythmia, Chorea, Hypertonia... ORPHA:13
Rare Non-Syndromic Intellectual Disability
Seizure, Bilateral tonic-clonic seizure, Spasticity ORPHA:101685
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Bilateral tonic-clonic seizure, Focal tonic seizure, Generalized n... ORPHA:485350
Dystonia 6, Torsion
Torticollis, Myoclonus OMIM:602629
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, EEG with continuous slow activity, Bilateral tonic-... ORPHA:275864
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Premature pubarche, Bilateral tonic-clonic seizure, EEG abnormality, Abnormal peripheral action p... ORPHA:457205
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Bilateral tonic-clon... OMIM:614487
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue ORPHA:45
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus OMIM:300699
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Postexertional malaise, Hepatocellular carcinoma, Growth delay, Hypoglycemia, Hepatic ... ORPHA:369
Pontocerebellar Hypoplasia, Type 4
Seizure, Hypertonia, Myoclonus, Spasticity OMIM:225753
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Hypertonia, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic tetra... OMIM:619302
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Myotonia, Dysmetria, Int... OMIM:615491
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Hypotension, Abnormality of secondary sexua... ORPHA:95619
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Congenital Disorder Of Glycosylation, Type In
Seizure, Myoclonus, Ataxia, Spasticity OMIM:612015
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Dysmetria, Cognitive impairment, Attention deficit hyperactivity diso... OMIM:614306
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive, Intrauterine grow... ORPHA:26792
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Seizure, Increased muscle fatiguability, Adrenal insufficiency, Hy... ORPHA:261476
Foxg1 Syndrome
Focal-onset seizure, Hyperkinetic movements, Bilateral tonic-clonic seizure, Status epilepticus, ... ORPHA:561854
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Long eyelashes, Ataxia, Hypoglycemia, Intrauterine growth retardation, D... ORPHA:48431
Pyridoxal Phosphate-Responsive Seizures
Hypertonia, EEG with burst suppression, Hypoglycemia, Status epilepticus, Seizure, Myoclonus ORPHA:79096
Severe Canavan Disease
Bilateral tonic-clonic seizure, Seizure, Babinski sign, Decerebrate rigidity, Spasticity ORPHA:314911
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Focal-onset seizure, Hypertonia, Ataxia, Bilateral tonic-clonic seizure with... OMIM:619092
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, EEG with focal spikes, Gait ataxia, Bilateral tonic-clonic seizure ORPHA:488635
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Atypical Rett Syndrome
Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Spasticity, Seizure, EEG abnormality, Tongue t... ORPHA:3095
Thyrocerebrorenal Syndrome
Slurred speech, Seizure, Myoclonus, Euthyroid goiter, Nonprogressive cerebellar ataxia ORPHA:3327
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Guanidinoacetate Methyltransferase Deficiency
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Atoni... ORPHA:382
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Hypertension, Increased adipose tissue, Type II diabetes mellitus, ... ORPHA:71529
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Ataxia, Seizure, Myoclonus, Rigidity ORPHA:391417
Autosomal Recessive Spastic Paraplegia Type 48
Ataxia, Lower limb spasticity, Spastic gait, Parkinsonism, Myoclonus, Progressive spastic paraplegia ORPHA:306511
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Parkinsonism, Myoclonus, Abnormality of extrapyramidal motor function OMIM:204200
Spinocerebellar Ataxia 17
Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia, Seizure, Parkinsonism, Myoclonus... OMIM:607136
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Posterior Cortical Atrophy
Memory impairment, Inertia, Anxiety, Ataxia ORPHA:54247
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Decreased body weight, Hypoglycemia, Postnatal growth retardation, Small f... ORPHA:231140
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor, Generalized-onset seizure OMIM:254900
Glycogen Storage Disease Ixa1
Hepatomegaly, Growth delay, Hypoglycemia OMIM:306000
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Hypsarrhythmia, Atonic seizure, Multifocal epileptiform discharges, Ge... ORPHA:411986
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
Brain Small Vessel Disease 2
Hemiplegia, Focal-onset seizure, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:614483
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Glucocorticoid Resistance, Generalized
Fatigue, Hypertension, Hirsutism, Hypoglycemia OMIM:615962
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability, Gait ataxia OMIM:613077
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Myotonia Congenita, Autosomal Recessive
Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs OMIM:255700
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, F... ORPHA:1945
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Juvenile Huntington Disease
Gait ataxia, Chorea, Ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Myoclonus, Rig... ORPHA:248111
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Ataxia, Hypoglycemia, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Insulin resistance, Hypoglycemia, Postnatal growth retardation, Intrauteri... ORPHA:73272
Huntington Disease
Inability to walk, Dystonia, Mental deterioration, Aggressive behavior, Disinhibition, Depression... ORPHA:399
Carnitine Deficiency, Systemic Primary
Lethargy, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Decreased carnitine level in... OMIM:212140
Glycine Encephalopathy
Seizure, Myoclonus OMIM:605899
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Combined Oxidative Phosphorylation Deficiency 14
Seizure, EEG abnormality, Myoclonus OMIM:614946
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Aggressive behavior, Depression, Ataxia, Bradykinesia, Anxiety, Dys... OMIM:615157
Myopathy Due To Myoadenylate Deaminase Deficiency
Increased muscle fatiguability OMIM:615511
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsuli... ORPHA:263455
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Diabetes mellitus, Hemiparesis, Bilateral tonic-clonic seizure OMIM:540000
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Failure to thrive, ... OMIM:617872
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Ataxia OMIM:618970
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Hypertonia, Seizure, Babinski sign, Clonus, Myoclonic spasms, Rigidity, Gene... OMIM:614498
Sporadic Creutzfeldt-Jakob Disease
Abnormality of extrapyramidal motor function, Hypsarrhythmia, Abnormal pyramidal sign, Ataxia, My... ORPHA:204
Mitochondrial Complex I Deficiency, Nuclear Type 31
Seizure, Myoclonus, Dysmetria OMIM:618251
Familial Infantile Bilateral Striatal Necrosis
Cogwheel rigidity, Choreoathetosis, Gait ataxia, Hypertonia, Spastic tetraparesis, Tetraparesis, ... ORPHA:225154
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Seizure, EEG abnormality, Myoclonus, Babinski sign, Spasticity OMIM:221770
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Thyrocerebroretinal Syndrome
Goiter, Slurred speech, Ataxia, Seizure, Myoclonus OMIM:274240
Caribbean Parkinsonism
Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysfunction, A... ORPHA:97355
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Seizure, EEG abnormality, Myoclonus, Rigidity OMIM:300673
Temple Syndrome
Polyphagia, Postnatal growth retardation, Obesity, Small for gestational age, Type II diabetes me... ORPHA:254516
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, EEG with persistent abnormal rhythmic activity, Spastic hemipare... ORPHA:282166
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Seizure, Bilateral tonic-clonic seizure with generalized onset, Hypertonia, Spastic tetraplegia OMIM:618730
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Bilateral tonic-clonic seizure, Ataxia, Seizure, Focal myoclonic s... ORPHA:464282
Subependymal Nodular Heterotopia
Interictal EEG abnormality, Focal-onset seizure, EEG with temporal focal spike waves, Seizure, EE... ORPHA:101030
Corticosteroid-Binding Globulin Deficiency
Increased muscle fatiguability OMIM:611489
Choreoacanthocytosis
Dystonia, Disinhibition, Aggressive behavior, Dementia, Self-mutilation of tongue and lips due to... OMIM:200150
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Bipolar affective disorder, Aggressive behavi... ORPHA:3077
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Foc... OMIM:619338
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Congestive heart failure, Failure to thrive, Intra... OMIM:619048
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia, Fasciculations OMIM:137200
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Lethargy, Growth delay, Hypoglycemia, Adrenal insufficiency, Small for... OMIM:307030
Mitochondrial Complex I Deficiency, Nuclear Type 4
Seizure, Myoclonus, Ataxia OMIM:618225
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Gait ataxia, Clumsiness, Bilateral tonic-clonic seizure, Ataxia, Seizure, EEG with abnormally slo... ORPHA:1947
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Clumsiness, Poor motor coordination, Poor fine motor coordination, Bi... ORPHA:79264
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
In