Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Kcnj11 MGI:107501

Gene Summary

Name:

potassium inwardly rectifying channel, subfamily J, member 11

Synonyms:

Kir6.2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased hemoglobin content	Kcnj11^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.02×10^-10
abnormal ear morphology	Kcnj11^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.16×10^-05
impaired glucose tolerance	Kcnj11^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.99×10^-20
decreased fasting circulating glucose level	Kcnj11^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.26×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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

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

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

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

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

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

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

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

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Adult LacZ

LacZ Images Wholemount

14 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images

X-ray

XRay Images Whole Body Lateral 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.

Human diseases associated with Kcnj11 (11 diseases)
Human diseases predicted to be associated with Kcnj11 (1176 diseases)

The table below shows human diseases associated to Kcnj11 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Myoclonic seizure, Hyperglycemia, Hypsarrhythmia, Bilateral tonic-cloni...	OMIM:618856
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Seizure, Hyperglycemia, Transient neonatal diabetes mellitu...	ORPHA:99886
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph...	ORPHA:276580
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ...	OMIM:616329
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype...	ORPHA:552
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Apraxia, Bilateral tonic...	ORPHA:99885
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c, Thickened ears	ORPHA:79134

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

Disease	Matching phenotypes	Source
Epilepsy, Familial Adult Myoclonic, 4	Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E...	OMIM:615127
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur...	OMIM:619964
Epilepsy, Familial Adult Myoclonic, 1	EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s...	OMIM:601068
Severe Primary Trimethylaminuria	Depression, Negative affectivity, Obsessive-compulsive trait, Emotional lability, Aggressive beha...	ORPHA:468726
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo...	OMIM:613608
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Epilepsy, Familial Temporal Lobe, 5	EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw...	OMIM:614417
Infantile Spasms Syndrome	Hypsarrhythmia, Infantile spasms, Myoclonus	ORPHA:3451
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, In...	OMIM:615400
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Tremor, Bilateral ton...	OMIM:616187
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,...	ORPHA:725
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro...	ORPHA:314811
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen...	OMIM:254770
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilatera...	OMIM:615006
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, EEG with polyspike wave complexes, Ataxia, Inten...	ORPHA:308
Epilepsy With Eyelid Myoclonia	Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei...	ORPHA:139431
Benign Adult Familial Myoclonic Epilepsy	Hand tremor, Generalized-onset seizure, Myoclonus, EEG abnormality, Focal-onset seizure	ORPHA:86814
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, EEG with spike-wave complexes, Gait ataxia, Myoclonus, Tremor, EEG with polyspike wave co...	OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Developmental And Epileptic Encephalopathy 104	Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate...	OMIM:619970
Myoclonic Epilepsy Of Unverricht And Lundborg	Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys...	OMIM:254800
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor...	OMIM:617391
Developmental And Epileptic Encephalopathy 12	Spasticity, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal...	OMIM:613722
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Hand tremor, Myoclonus, Prolonged somatosensory evoked potentials, Focal hemifacial clonic seizur...	OMIM:608105
Developmental And Epileptic Encephalopathy 94	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:615369
Developmental And Epileptic Encephalopathy 27	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Hyp...	OMIM:616139
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Seizure,...	OMIM:245570
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure	OMIM:614115
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ...	ORPHA:293964
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Fasting hypoglycemia, Bilateral tonic-clonic seizure, Hypoinsulinemia, Neonatal hyp...	OMIM:240900
Developmental And Epileptic Encephalopathy 11	Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil...	OMIM:613721
Developmental And Epileptic Encephalopathy 53	Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar...	OMIM:617389
Epilepsy, Progressive Myoclonic, 11	Seizure, Giant somatosensory evoked potentials, Myoclonus, Rigidity, Ataxia, Intention tremor	OMIM:618876
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt...	ORPHA:314802
Stxbp1-Related Encephalopathy	EEG with abnormally slow frequencies, Spasticity, Generalized myoclonic seizure, Focal impaired a...	ORPHA:599373
Chromosome 15Q11-Q13 Duplication Syndrome	Increased serum serotonin, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Truncal ataxia	OMIM:608636
Spinocerebellar Ataxia Type 27	Memory impairment, Depression, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive...	ORPHA:98764
Cerebellar Atrophy, Developmental Delay, And Seizures	EEG abnormality, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617643
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur...	OMIM:616056
Perioral Myoclonia With Absences	Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with eyelid...	ORPHA:139426
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ...	OMIM:613855
Ceroid Lipofuscinosis, Neuronal, 8	Myoclonus, EEG abnormality, Seizure, Ataxia	OMIM:600143
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism...	OMIM:162350
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Involuntary movements, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617171
Epilepsy, Progressive Myoclonic, 6	Ataxia, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, Tremor...	OMIM:614018
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Myoclonic seizure, Hyperglycemia, Hypsarrhythmia, Bilateral tonic-cloni...	OMIM:618856
Centralopathic Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG wit...	OMIM:117100
Rolandic Epilepsy-Speech Dyspraxia Syndrome	EEG with generalized epileptiform discharges, Continuous spike and waves during slow sleep, Seizu...	ORPHA:163721
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Limb ataxia, Myoclonus, EEG with photoparoxysmal response, Bilateral tonic-clon...	OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	EEG abnormality, Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:610003
Lennox-Gastaut Syndrome	EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure, EEG a...	ORPHA:2382
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons...	ORPHA:101046
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor	OMIM:611092
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Myoclonic Epilepsy Of Infancy	Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c...	ORPHA:86909
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia	ORPHA:22
Early Myoclonic Encephalopathy	Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Hypsarrhythmia, EEG abnormality...	ORPHA:1935
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic...	OMIM:266100
Familial Focal Epilepsy With Variable Foci	Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur...	ORPHA:98820
Benign Familial Neonatal Epilepsy	Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal EEG discharges with secondary ge...	ORPHA:1949
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel...	OMIM:618357
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia	OMIM:208700
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se...	OMIM:600669
Polymyoclonus, Infantile	Irritability, Ataxia	OMIM:263550
Developmental And Epileptic Encephalopathy 31A	Myoclonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure...	OMIM:616346
Juvenile Myoclonic Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:307
Developmental And Epileptic Encephalopathy 59	Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic sei...	OMIM:617904
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Hypsarrhyth...	OMIM:616409
Developmental And Epileptic Encephalopathy 69	Spastic tetraplegia, Myoclonus, Hyperkinetic movements, Hypsarrhythmia, EEG abnormality, Status e...	OMIM:618285
Landau-Kleffner Syndrome	EEG with frontal focal spikes, Non-convulsive status epilepticus without coma, EEG with generaliz...	ORPHA:98818
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Ceroid Lipofuscinosis, Neuronal, 2	Abnormal nervous system electrophysiology, Myoclonus, Seizure, Ataxia	OMIM:204500
Epilepsy, Progressive Myoclonic, 9	Generalized myoclonic seizure, Gait ataxia, Myoclonus, Bilateral tonic-clonic seizure, Action myo...	OMIM:616540
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Seizures, Benign Familial Infantile, 5	Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Progressive Myoclonic Epilepsy Type 3	Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:263516
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Epilepsy, Familial Temporal Lobe, 8	Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons...	OMIM:616461
Pandas	Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi...	ORPHA:66624
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp...	OMIM:262700
Developmental And Epileptic Encephalopathy 32	Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), EEG wi...	OMIM:616366
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ...	OMIM:619317
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas...	OMIM:619000
Creutzfeldt-Jakob Disease	Memory impairment, Depression, Confusion, Gait ataxia, Irritability, Dementia	OMIM:123400
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus, Seizure	OMIM:217200
Dravet Syndrome	Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni...	ORPHA:33069
Spinocerebellar Ataxia, Autosomal Recessive 12	Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Lower limb spasticity, EEG abnormality, Bila...	OMIM:614322
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu...	ORPHA:324575
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Seizure, Hyperglycemia, Transient neonatal diabetes mellitu...	ORPHA:99886
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot...	OMIM:204300
Developmental And Epileptic Encephalopathy 43	Myoclonic seizure, Atonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizu...	OMIM:617113
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614558
Hemimegalencephaly	Hemihypsarrhythmia, Seizure, EEG with focal sharp slow waves, Interictal EEG abnormality, Epilept...	ORPHA:99802
Manganese Poisoning	Memory impairment, Depression, Confusion, Akinesia, Inappropriate laughter, Emotional lability, I...	ORPHA:306682
Developmental And Epileptic Encephalopathy 42	Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality,...	OMIM:617106
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Fatigue, Hype...	ORPHA:263458
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Chorea, Emotional lability, Gait disturbance, Dementia, Dysphagia	OMIM:607674
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Focal atonic seizure, Bilateral ton...	ORPHA:101071
Glut1 Deficiency Syndrome 1	Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, EEG abnormality, Ataxia, C...	OMIM:606777
Epilepsy, Nocturnal Frontal Lobe, 2	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Developmental And Epileptic Encephalopathy 37	Spasticity, Chorea, Cogwheel rigidity, Myoclonus, Focal hemiclonic seizure, Rigidity, Hyperkineti...	OMIM:616981
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Dravet Syndrome	Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen...	OMIM:607208
Myoclonus-Dystonia Syndrome	Myoclonus, Limb myoclonus, Torticollis, Spinal myoclonus	ORPHA:36899
Developmental Delay With Or Without Epilepsy	Ataxia, EEG with frontal focal spikes, Spasticity, Myoclonic seizure, Generalized non-motor (abse...	OMIM:620540
Developmental And Epileptic Encephalopathy 98	EEG with burst suppression, Refractory status epilepticus, Focal-onset seizure, Clonic seizure, B...	OMIM:619605
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ...	OMIM:607876
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Isolated Growth Hormone Deficiency, Type Ia	Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula...	OMIM:262400
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myo...	OMIM:607631
Generalized Epilepsy With Febrile Seizures-Plus	Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-...	ORPHA:36387
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure	OMIM:612437
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Seizure, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski s...	OMIM:615362
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca...	OMIM:607745
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc...	ORPHA:171706
Epilepsy, Childhood Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:600131
Febrile Seizures, Familial, 8	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:607681
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Hypsarrhythmia,...	OMIM:618141
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure	OMIM:616341
Progressive Myoclonic Epilepsy With Dystonia	EEG with irregular generalized spike and wave complexes, Hemiplegia, Myoclonus, Hemiparesis, Abno...	ORPHA:352596
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni...	ORPHA:79137
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:611364
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Lissencephaly 10	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:618873
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph...	ORPHA:276580
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, EEG abnormality, Hyperto...	ORPHA:71277
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Seizure, Myoclonus, Limb tremor, Focal tonic seizure, Hypertonia, Interictal epileptiform activity	OMIM:300699
Developmental And Epileptic Encephalopathy 92	Spasticity, Seizure, Myoclonus, EEG abnormality, Ataxia	OMIM:617829
Intellectual Developmental Disorder, Autosomal Dominant 5	Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis	OMIM:612621
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra...	OMIM:607317
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure	OMIM:618425
Epilepsy, Progressive Myoclonic, 12	Mental deterioration, Depression, Difficulty walking, Dysmetria, Attention deficit hyperactivity ...	OMIM:619191
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Tremor, Clumsiness, ...	ORPHA:2590
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Benign Familial Neonatal-Infantile Seizures	Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei...	ORPHA:140927
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Developmental And Epileptic Encephalopathy 40	Spasticity, Seizure, Myoclonus, Hypsarrhythmia, Spastic tetraparesis, Choreoathetosis	OMIM:617065
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph...	ORPHA:276575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Salt And Pepper Developmental Regression Syndrome	Myoclonus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Status epilepticus...	OMIM:609056
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Periodic hypokalemic paresis, Adrenocortical adenoma, Exercise-induce...	ORPHA:681
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Parkinson...	OMIM:605407
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal pyramidal sign, Upper motor neuron ...	ORPHA:95434
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Myoclonus, Familial, 2	Limb myoclonus, Seizure	OMIM:618364
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,...	ORPHA:79262
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Bilateral tonic-clonic seizure, Seizure	OMIM:614499
Dentatorubral-Pallidoluysian Atrophy	Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Choreoathetosis	OMIM:125370
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Intellectual Developmental Disorder, Autosomal Dominant 69	Intention tremor, Bilateral tonic-clonic seizure	OMIM:617863
Developmental And Epileptic Encephalopathy 103	Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen...	OMIM:619913
Ceroid Lipofuscinosis, Neuronal, 5	Seizure, Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Clumsiness, Limb tremor...	OMIM:256731
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia, Periodic hypokalemic paresis, Percussion myotonia, Myotonia of the f...	ORPHA:684
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypertonia, Myoclonus, Seizure, Hypoglycemia	OMIM:610090
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, Tremor, Rigidity, EEG abnormality, Bilateral tonic-clonic seizure, Ata...	OMIM:617836
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Unilateral Focal Polymicrogyria	EEG with frontal focal spikes, Focal impaired awareness seizure, Seizure, Abnormality of somatose...	ORPHA:268947
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic...	ORPHA:276556
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Hypothyroidism, Myoclonus, Tremor, Frequent falls	OMIM:619647
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Seizure, Epileptic spasm, EEG with burst suppression, Myoclonus, Ataxia, Erratic myoclonus, Spast...	OMIM:619971
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Dystonia 3, Torsion, X-Linked	Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Tremor	OMIM:314250
Developmental And Epileptic Encephalopathy 91	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral...	OMIM:617711
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction	ORPHA:401901
Cerebral Creatine Deficiency Syndrome 2	Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus...	OMIM:612736
Yoon-Bellen Neurodevelopmental Syndrome	Spasticity, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Ataxia, Generalized...	OMIM:619701
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Combined Saposin Deficiency	Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clonic seizure	OMIM:611721
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia, Progressive cerebellar ataxia	ORPHA:67046
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Status epilepticus without pr...	ORPHA:363549
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure	OMIM:545000
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s...	OMIM:619606
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Episodic Ataxia, Type 9	Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon...	OMIM:618924
Dystonia 11, Myoclonic	Myoclonus, Tremor, Torticollis	OMIM:159900
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu...	OMIM:619157
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Gait ataxia, Dysmetria, T...	OMIM:617810
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Myoclonic Epilepsy, Familial Infantile	Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye...	OMIM:605021
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Seizure, Exercise-induced muscle fatigue, Chorea, Hyperkinetic movements, Truncal ataxia	ORPHA:369847
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized...	OMIM:609446
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Lower limb spasticity, Bilateral tonic-clonic seizure	OMIM:619639
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Developmental And Epileptic Encephalopathy 23	Infantile spasms, Myoclonus, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atoni...	OMIM:615859
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Isolated Focal Cortical Dysplasia	Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ...	ORPHA:65683
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Developmental And Epileptic Encephalopathy 63	Myoclonic seizure, EEG with generalized epileptiform discharges, Seizure, Cerebral palsy, General...	OMIM:617976
Malignant Migrating Focal Seizures Of Infancy	Precocious puberty, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure with focal...	ORPHA:293181
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:616172
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonic seizure, EEG with burst suppression, Myoclonus, Tonic seizure, Hypertonia, Bilateral to...	OMIM:617290
Developmental And Epileptic Encephalopathy 52	Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ...	OMIM:617350
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy, Hypoglycemia, Sudden death	OMIM:609016
Developmental And Epileptic Encephalopathy 90	EEG with burst suppression, Focal-onset seizure, Ankle clonus, Babinski sign, Hypothyroidism, Lim...	OMIM:301058
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Severe short stature, Intrauterine growth retardation, Hypoglycemia	OMIM:223500
Myoclonic-Atonic Epilepsy	Myoclonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Tremor, Ataxia, Eyeli...	OMIM:616421
Pontocerebellar Hypoplasia, Type 1E	EEG with burst suppression, Myoclonus	OMIM:619303
Developmental And Epileptic Encephalopathy 24	Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range...	OMIM:615871
Developmental And Epileptic Encephalopathy 109	Spasticity, Myoclonic seizure, Typical absence seizure, Myoclonus, Gait ataxia, Focal hemiclonic ...	OMIM:620145
Mitochondrial Complex I Deficiency, Nuclear Type 12	Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Frequent falls, Generalized myoclonic...	OMIM:301020
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Spasticity, Seizure, Chorea, Hypothyroidism, EEG abnormality, Bilateral tonic-clonic seizure, Sta...	OMIM:613970
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic status epilepticus,...	OMIM:611726
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Epileptic spasm, Myoclonus, Hyperkinetic movements, Tonic seizure, Bi...	OMIM:618497
Alternating Hemiplegia Of Childhood 1	Bilateral tonic-clonic seizure, Episodic quadriplegia, Choreoathetosis, Episodic hemiplegia	OMIM:104290
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ...	OMIM:601764
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Geniospasm 1	Chin myoclonus	OMIM:190100
Hereditary Geniospasm	Chin myoclonus	ORPHA:53372
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Generalized-onset seizure, Interictal EEG abnormality, Chorea, Myoclonus, Dy...	ORPHA:79263
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ...	ORPHA:726
Succinic Semialdehyde Dehydrogenase Deficiency	Seizure, Generalized non-motor (absence) seizure, Hyperkinetic movements, EEG abnormality, Bilate...	OMIM:271980
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia	OMIM:240800
Sydenham Chorea	Inappropriate behavior, Chorea, Emotional lability, Irritability, Compulsive behaviors, Unsteady ...	ORPHA:306731
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Myoclonus, Hyperkinetic movement...	OMIM:614254
Huntington Disease-Like 2	Memory impairment, Depression, Chorea, Irritability, Dementia, Bradykinesia, Subcortical dementia	OMIM:606438
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Severe Neonatal-Onset Encephalopathy With Microcephaly	Involuntary movements, Spasticity, Seizure, EEG with focal slow activity, Bilateral tonic-clonic ...	ORPHA:209370
Febrile Seizures, Familial, 4	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:602477
Febrile Seizures, Familial, 1	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:121210
Febrile Seizures, Familial, 5	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609255
Febrile Seizures, Familial, 6	Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi...	OMIM:609253
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera...	ORPHA:289266
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia	OMIM:615924
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, Clumsine...	ORPHA:352582
Peho-Like Syndrome	Hypsarrhythmia, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617507
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Kohlschutter-Tonz Syndrome	Spasticity, Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Ataxia, F...	OMIM:226750
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati...	ORPHA:240094
Developmental And Epileptic Encephalopathy 16	Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic seizure, Status epil...	OMIM:615338
Developmental And Epileptic Encephalopathy 34	Seizure, Focal-onset seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Status epileptic...	OMIM:616645
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Focal impaired awareness seizure, Seizure, Chorea, Abnormality of extrapyramidal motor fu...	ORPHA:382
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Chorea, Infantile spasms, Hyperkinetic movements, Bilateral to...	OMIM:617493
Mehmo Syndrome	Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Difficult...	OMIM:300148
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:101039
Striatonigral Degeneration, Infantile, Mitochondrial	Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Clonus, Paroxysmal cho...	OMIM:500003
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, EE...	ORPHA:313772
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613863
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Spastic diplegia	OMIM:619065
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Developmental And Epileptic Encephalopathy 1	Generalized myoclonic seizure, EEG with burst suppression, Infantile spasms, Focal-onset seizure,...	OMIM:308350
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Focal impaired awareness seizure, Seizure, Delayed menarche, Focal-onset seizure, Tremor, Bilater...	ORPHA:330050
Late Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Spasticity, Myoclonic seizure, Typical absence seizure, Seizure, EEG with generalized slo...	ORPHA:168491
Dystonia 23	Head tremor, Myoclonus, Torticollis	OMIM:614860
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis	OMIM:300388
Hyperinsulinism-Hyperammonemia Syndrome	EEG with generalized epileptiform discharges, Fasting hyperinsulinemia, Reactive hypoglycemia, At...	ORPHA:35878
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Seizure, Myoclonus, EEG abnormality, Ataxia	OMIM:256730
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic...	OMIM:160800
Hyperekplexia 4	Seizure, Infantile spasms, Myoclonus, Hypsarrhythmia, Hypertonia	OMIM:618011
Clcn4-Related X-Linked Intellectual Disability Syndrome	Upper limb spasticity, Generalized non-motor (absence) seizure, Seizure, Chorea, Infantile spasms...	ORPHA:485350
Spinocerebellar Ataxia 21	Mental deterioration, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Cognitive impairme...	OMIM:607454
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Involuntary movements, Focal sensory seizure with somatosensory fea...	ORPHA:1929
Glycogen Storage Disease Vi	Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, Increased hepatic glyco...	OMIM:232700
Perry Syndrome	Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Disinhibition, Fronto...	OMIM:168605
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Dyskinesia, Limb And Orofacial, Infantile-Onset	Seizure, Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Spastic tetraplegia, Epileptic spasm, EEG with burst suppression, Tremor, Gen...	OMIM:612164
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Seizure, Myoclonus, Babinski sign, Apraxia, EEG abnormality	OMIM:618193
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Hyperphenylalaninemia, Bh4-Deficient, C	Seizure, Myoclonus, Tremor, Hypertonia, Choreoathetosis	OMIM:261630
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si...	ORPHA:254343
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:604233
Spinocerebellar Ataxia Type 37	Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis	ORPHA:363710
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Developmental And Epileptic Encephalopathy 41	Spasticity, Myoclonic seizure, Tetraparesis, Epileptic spasm, Status epilepticus without prominen...	OMIM:617105
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycem...	OMIM:620211
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:613060
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Seizure, Generalized-onset seizure, Hemiparesis, EEG abnormality, Hypertonia, Bilateral tonic-clo...	OMIM:604317
Developmental And Epileptic Encephalopathy 108	Small pituitary gland, Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness...	OMIM:620115
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Dystonia 6, Torsion	Myoclonus, Torticollis	OMIM:602629
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Bilateral ton...	OMIM:300423
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Myoclonus, Tremor	OMIM:619651
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Tremor, Dysmetria, Bilateral tonic-clonic seizure with generalized onset, Lower limb s...	OMIM:619028
Spastic Paraplegia 79B, Autosomal Recessive	Spastic paraplegia, Myotonia, Tetraparesis, Fasciculations, Postural tremor, Dysmetria, Ankle clo...	OMIM:615491
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Hyperto...	OMIM:619301
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Juvenile Huntington Disease	Broad-based gait, Depression, Chorea, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dementia,...	ORPHA:248111
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ...	OMIM:616329
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Failure to thrive, Hypoglycemia	OMIM:606528
Lissencephaly 3	Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia	OMIM:611603
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Myoclonus, Gait ataxia, Dysmetria, Tremor, EEG w...	ORPHA:254881
Intellectual Developmental Disorder, X-Linked 1	Bilateral tonic-clonic seizure, Seizure, Atonic seizure	OMIM:309530
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, To...	OMIM:619862
Developmental And Epileptic Encephalopathy 47	Limb ataxia, Focal-onset seizure, Tonic seizure, Hypsarrhythmia, EEG abnormality, Bilateral tonic...	OMIM:617166
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Seizure, Myoclonus, Intention tremor, Clonic seizure, Status epilepticus, Bilateral tonic-clonic ...	OMIM:610539
Adenosine Monophosphate Deaminase Deficiency	Exercise-induced muscle fatigue	ORPHA:45
Pontocerebellar Hypoplasia Type 4	Hypertonia, Myoclonus, Seizure	ORPHA:166063
Bilateral Generalized Polymicrogyria	Spasticity, Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, In...	ORPHA:208447
Post-Traumatic Pituitary Deficiency	Hypotension, Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitar...	ORPHA:95619
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia	ORPHA:98763
Spinocerebellar Ataxia 48	Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Ataxia, Dysphagia	OMIM:618093
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism, Bilateral tonic-c...	OMIM:204200
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Poor motor coordination, Spasticity, Seizure, Tetraparesis, Hyperinsulinemia,...	ORPHA:363400
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Obesity	Decreased resting energy expenditure, Obesity, Increased waist to hip ratio	OMIM:601665
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia	OMIM:606762
Epilepsy, Familial Focal, With Variable Foci 4	Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb...	OMIM:617935
Brody Disease	Percussion myotonia, Myotonia, Fasciculations	OMIM:601003
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure, Hyperto...	OMIM:619302
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Bilateral tonic-clonic seizure, Spasticity, Seizure, Ataxia	OMIM:620317
Corticobasal Syndrome	Memory impairment, Somatic sensory dysfunction, Akinesia, Gait disturbance, Dementia, Bradykinesia	ORPHA:454887
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr...	OMIM:612016
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Cognitive impairment, Progressive cerebellar ataxia	ORPHA:98773
Neurodegeneration With Brain Iron Accumulation 5	Mental deterioration, Akinesia, Aggressive behavior, Dementia, Bradykinesia	OMIM:300894
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:617924
Congenital Disorder Of Glycosylation, Type Iaa	Bilateral tonic-clonic seizure, Status epilepticus, Appendicular spasticity, Pseudobulbar paralysis	OMIM:617082
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity...	ORPHA:71529
Neuropathy, Hereditary Sensory, Type Ie	Memory impairment, Dementia, Irritability, Ataxia, Delirium, Impulsivity	OMIM:614116
Glucocorticoid Deficiency 2	Myoclonic seizure, Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Myoclo...	OMIM:607398
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Failure to thrive, Hypoglycemia, Increased circulating prolactin concentration, Hype...	ORPHA:35708
Congenital Disorder Of Glycosylation, Type In	Spasticity, Myoclonus, Seizure, Ataxia	OMIM:612015
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, Bilateral tonic-clonic seizure, Generali...	OMIM:618090
Pyridoxine-Dependent Epilepsy	EEG with generalized epileptiform discharges, Hypoglycemia, EEG with generalized sharp slow waves...	ORPHA:3006
Developmental And Epileptic Encephalopathy 93	Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm...	OMIM:618012
Childhood Disintegrative Disorder	Mental deterioration, Abnormal emotion, Motor deterioration, Social and occupational deterioratio...	ORPHA:168782
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Infantile spasms...	OMIM:619616
Xp21 Deletion Syndrome	Spasticity, Seizure, Adrenal insufficiency, Primary adrenal insufficiency, Hypogonadotropic hypog...	ORPHA:261476
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response...	ORPHA:314632
Dimethylglycine Dehydrogenase Deficiency	Increased muscle fatiguability	ORPHA:243343
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrap...	ORPHA:13
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c...	OMIM:615962
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress...	OMIM:607346
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Seizures, Benign Familial Neonatal, 1	Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ...	OMIM:121200
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom...	OMIM:614487
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Episodic ataxia, Abnormal pyramidal sign, Bilateral tonic-clonic seizure, Par...	ORPHA:53583
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi...	ORPHA:3077
Autosomal Dominant Spastic Paraplegia Type 6	Spastic paraplegia, Postural tremor, Babinski sign, Lower limb spasticity, Bilateral tonic-clonic...	ORPHA:100988
Mitochondrial Complex I Deficiency, Nuclear Type 19	Seizure, Hypoglycemia, Myoclonus, Rigidity, Athetosis	OMIM:618241
Seizures, Benign Familial Infantile, 2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:605751
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Hypoglycemia, Intrauterine growth retardation, Abnormality of peripheral nerve conduction...	ORPHA:48431
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Short stature, Hypoglycemia	ORPHA:366
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Bilateral tonic-clonic seizure, Gait ataxia, Hand tremor	OMIM:617862
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	EEG abnormality, Convulsive status epilepticus, Chorea, Focal-onset seizure	OMIM:618760
Febrile Seizures, Familial, 11	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:614418
Dystonia 22, Juvenile-Onset	Dysdiadochokinesis, Dysmetria, Lower limb spasticity, Bilateral tonic-clonic seizure, Torticollis...	OMIM:620453
Epilepsy, Familial Temporal Lobe, 6	Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ...	OMIM:615697
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Postexertional symptom exacer...	ORPHA:369
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Gait ataxia, Increased muscle fatiguability, Ataxia	OMIM:613077
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:620461
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Cerebral palsy, Generalized non-motor (absence) seizure, Chorea, Myoclonus, Bi...	OMIM:617600
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Seizure, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, EEG abnormality, Bilater...	ORPHA:529665
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Generalized-onset seizure, Myoclonus, Tremor, Frequent falls, Generalized ...	OMIM:159950
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c	OMIM:606176
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im...	OMIM:619428
Phosphoserine Aminotransferase Deficiency	Hypertonia, Myoclonus, Seizure	OMIM:610992
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete...	ORPHA:453533
Dimethylglycine Dehydrogenase Deficiency	Increased muscle fatiguability	OMIM:605850
Pontocerebellar Hypoplasia, Type 4	Spasticity, Hypertonia, Myoclonus, Seizure	OMIM:225753
Rolandic Epilepsy	EEG with irregular generalized spike and wave complexes, EEG with centrotemporal focal spike wave...	ORPHA:1945
Foxg1 Syndrome	Spasticity, Infantile spasms, Myoclonus, Focal-onset seizure, Hyperkinetic movements, Bilateral t...	ORPHA:561854
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Postnatal growth retardation, Decreased body weight, Hyperhidrosis, Short stature, ...	ORPHA:231140
Myotonia Congenita, Autosomal Recessive	Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs	OMIM:255700
Erythrocyte Lactate Transporter Defect	Exercise-induced muscle fatigue	OMIM:245340
Autosomal Recessive Spastic Paraplegia Type 48	Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity, Ataxia, Spastic gait	ORPHA:306511
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Pyridoxal Phosphate-Responsive Seizures	Seizure, Hypoglycemia, EEG with burst suppression, Myoclonus, Hypertonia, Status epilepticus	ORPHA:79096
Spinocerebellar Ataxia 17	Seizure, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Apraxia,...	OMIM:607136
Hsd10 Disease	Spastic paraparesis, Seizure, Myoclonus, Tremor, Rigidity, Ataxia, Choreoathetosis	ORPHA:391417
Thyrocerebrorenal Syndrome	Euthyroid goiter, Seizure, Myoclonus, Nonprogressive cerebellar ataxia, Slurred speech	ORPHA:3327
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Abnormal peripheral action potential amplitude, EEG abnormal...	ORPHA:457205
D-Glyceric Aciduria	Spasticity, Hypoglycemia, Seizure, Focal clonic seizure, Myoclonus, Appendicular spasticity, Opis...	OMIM:220120
New-Onset Refractory Status Epilepticus	Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo...	ORPHA:363558
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ...	ORPHA:411986
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:139485
Susac Syndrome	Somatic sensory dysfunction, Confusion, Abnormal emotion, Gait ataxia, Lethargy, Cognitive impair...	ORPHA:838
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Nocturnal seizures, Bilateral...	OMIM:619725
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure with generalize...	OMIM:619092
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Paroxysmal dyskinesia,...	OMIM:606703
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Anterior hypopituitarism, Hypoglycemia, Congestive heart failure	ORPHA:2022
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Increased muscle fatiguability	OMIM:611489
Myopathy Due To Myoadenylate Deaminase Deficiency	Increased muscle fatiguability	OMIM:615511
Developmental And Epileptic Encephalopathy 28	Spasticity, Generalized non-motor (absence) seizure, Seizure, Focal clonic seizure, Epileptic spa...	OMIM:616211
Hsd10 Mitochondrial Disease	Hypoglycemia, Hypertrophic cardiomyopathy, Aggressive behavior, Restlessness, Choreoathetosis, Ag...	OMIM:300438
Atypical Rett Syndrome	Involuntary movements, Spasticity, Neonatal seizure, Limb myoclonus, Pill-rolling tremor, Seizure...	ORPHA:3095
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Generalized myoclonic seizure, EEG with burst suppression, Focal-onset seizure, Rigidity, Babinsk...	OMIM:614498
Hereditary Late-Onset Parkinson Disease	Mental deterioration, Shuffling gait, Depression, Akinesia, Low frustration tolerance, Impulsivit...	ORPHA:411602
Non-Specific Early-Onset Epileptic Encephalopathy	Involuntary movements, Spasticity, Seizure, Abnormality of coordination, Myoclonus, Tremor, Rigid...	ORPHA:442835
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Spasticity, Febrile seizure (within the age range of 3 months to 6 years), Chorea, Gait ataxia, F...	OMIM:618917
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Bilateral tonic-clonic seizure, EEG with focal spikes, Gait ataxia, Seizure	ORPHA:488635
Kufor-Rakeb Syndrome	Akinesia, Distal sensory impairment, Aggressive behavior, Gait disturbance, Ataxia, Dementia, Bra...	OMIM:606693
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic isl...	ORPHA:263455
Mitochondrial Complex I Deficiency, Nuclear Type 31	Dysmetria, Myoclonus, Seizure	OMIM:618251
Spinocerebellar Ataxia 50	Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia	OMIM:620158
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Seizure, Decreased nerve conduction velocity, Myoclonus, Intention tremor, Dysmetria, Babinski si...	OMIM:618356
Congenital Disorder Of Glycosylation, Type Iiy	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:620200
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Tetraparesis, Infantile spasms, Myoclonus, Multifocal epileptiform discharges, Focal-...	OMIM:618972
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Brain Small Vessel Disease 2	Hemiplegia, Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Hypoglycemia, ...	OMIM:617872
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Congestive heart failure, Intrauterine growth retardation, Hepat...	OMIM:619048
Alexander Disease	Spasticity, Seizure, Dysmetria, Babinski sign, Ataxia, Palatal tremor	OMIM:203450
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Myoclonus, EEG abnormality, Seizure, Rigidity	OMIM:300673
Temple Syndrome	Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test...	ORPHA:254516
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Spasticity, Myoclonic seizure, EEG with focal sharp slow waves, Tonic seizure, Hypsarrhythmia, Bi...	OMIM:619983
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Weakness due ...	ORPHA:97355
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral ...	OMIM:619338
Glycine Encephalopathy 1	Myoclonus, Seizure	OMIM:605899
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra...	ORPHA:204
Posttransplant Acute Limbic Encephalitis	EEG with abnormally slow frequencies, Seizure, Myoclonus, Ataxia, EEG with focal epileptiform dis...	ORPHA:163921
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Tetraparesis, Cogwheel rigidity, Myoclonus, Gait ataxia, Rigidity, Babinski sign, Hyp...	ORPHA:225154
Dystonia 28, Childhood-Onset	Spasticity, Retrocollis, Myoclonus, Tremor, Torticollis	OMIM:617284
Classic Progressive Supranuclear Palsy Syndrome	Mental deterioration, Neuromuscular dysphagia, Falls, Akinesia, Gait imbalance, Social and occupa...	ORPHA:240071
Subependymal Nodular Heterotopia	Limb myoclonus, Seizure, EEG with temporal focal spike waves, Interictal EEG abnormality, EEG wit...	ORPHA:101030
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Postnatal growth retardation, ...	ORPHA:73272
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypoglycemic seizures, Hypogonadism, Panh...	OMIM:262600
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Intrauterine growth retardation, Hyperhidrosis, Small for gestational age, Hypoglycemia	ORPHA:231147
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Seizure, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Bilateral tonic-clo...	OMIM:619911
Familial Dyskinesia And Facial Myokymia	Chorea, Myoclonus, Resting tremor, Limb hypertonia	ORPHA:324588
Thyrocerebroretinal Syndrome	Seizure, Goiter, Myoclonus, Ataxia, Slurred speech	OMIM:274240
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Increased muscle fatiguability	OMIM:616323
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Inherited Creutzfeldt-Jakob Disease	Seizure, Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Ga...	ORPHA:282166
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Infantile spasms, Bilateral tonic-clonic seizure	OMIM:618470
Postencephalitic Parkinsonism	Depression, Akinesia, Paresthesia, Bradykinesia, Dysphagia, Abnormal aggressive, impulsive or vio...	ORPHA:97349
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Exercise intolerance, Dilated cardiomyopathy, Hypoglycemia, Gait imbal...	OMIM:618120
Multiple Acyl-Coa Dehydrogenase Deficiency	Exercise-induced muscle fatigue, Seizure, Hypoglycemia	ORPHA:26791
Severe Canavan Disease	Spasticity, Seizure, Babinski sign, Bilateral tonic-clonic seizure, Decerebrate rigidity	ORPHA:314911
Autosomal Recessive Frontotemporal Pachygyria	Bilateral tonic-clonic seizure, Seizure	ORPHA:329329
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia	OMIM:615158
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Systemic Primary Carnitine Deficiency	Clumsiness, Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to...	OMIM:619881
Dentici-Novelli Neurodevelopmental Syndrome	Precocious puberty, Myoclonic seizure, Epileptic spasm, Hypsarrhythmia, Bilateral tonic-clonic se...	OMIM:619877
Rippling Muscle Disease 1	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:600332
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Infantile spasms, Tonic seizure, Limb hypertonia, Bilateral tonic-clonic se...	OMIM:620028
Dk1-Cdg	Seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, EEG with generalized s...	ORPHA:91131
Autosomal Recessive Dopa-Responsive Dystonia	Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ...	ORPHA:101150
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Seizure, Epileptic spasm, EEG with focal sharp waves, Myoclonus, EEG with polyspike wave complexe...	ORPHA:284417
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Tremor, Ataxia	OMIM:616494
Creatine Phosphokinase, Elevated Serum	Increased muscle fatiguability	OMIM:123320
Non-Acquired Isolated Growth Hormone Deficiency	Sparse hair, Prolonged neonatal jaundice, Delayed puberty, Abdominal obesity, Short stature, Neon...	ORPHA:631
Developmental And Epileptic Encephalopathy 66	Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,...	OMIM:618067
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Spastic paraplegia, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Spastic gait	OMIM:615031
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Seizure, Myoclonus, Babinski sign, Apraxia, EEG abnormality	OMIM:221770
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Myoclonus, Seizure, Ataxia	OMIM:620094
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Failure to thrive, Hypoglycemia	ORPHA:67048
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Ataxia-Telangiectasia-Like Disorder	Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Frequent...	ORPHA:251347
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Gait ataxia, Dysmetria, Rigidity	OMIM:203740
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	EEG with generalized epileptiform discharges, Seizure, Generalized-onset seizure, Bilateral tonic...	OMIM:619827
Lafora Disease	Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Foca...	ORPHA:501
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Paroxysmal dyskines...	ORPHA:98810
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Exercise-induced muscle fatigue, Tremor, Ataxia	ORPHA:713
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ataxia	OMIM:618225
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype...	ORPHA:552
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Cardiomyopathy, Intrauterine growth retardation, Hepatic steatosis, Ketotic hy...	ORPHA:26792
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Diabetes mellitus, Bilateral tonic-clonic seizure, Hemiparesis	OMIM:540000
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Tongue fasciculations, Generalized non-motor (absence) seizure, Seizure, Dysmetria, Babinski sign...	OMIM:618170
Myotonia Fluctuans	Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ...	ORPHA:99734
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia, Hypogonadism, Long eyelashes, Growth delay	ORPHA:163693
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Involuntary movements, Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Noc...	ORPHA:98784
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Diabetes mellitus, Bilateral tonic-clonic seizure	OMIM:619278
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	High anterior hairline, Hypoglycemia, Fine hair, Postnatal growth retardation, Long eyelashes, Hy...	ORPHA:231137
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Myotonia, Tremor, Fasciculations	ORPHA:209335
Paramyotonia Congenita	Handgrip myotonia, Percussion myotonia, Paradoxical myotonia	OMIM:168300
Myoclonus, Intractable, Neonatal	Chorea, Athetosis, Myoclonus, Clonic seizure	OMIM:617235
Childhood-Onset Spasticity With Hyperglycinemia	Spastic dysarthria, Myoclonus, Babinski sign, Hypertonia, Ataxia, Progressive spasticity, Spastic...	ORPHA:401866
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Shuffling gait, Memory impairment, Akinesia, Gait ataxia, Ataxia, Dementia, Dysphagia, Dysdiadoch...	ORPHA:247234
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Spasticity, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hyp...	OMIM:616281
Congenital Isolated Acth Deficiency	Hypotension, Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatiti...	ORPHA:199296
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Hypertrophic cardiomyopathy, Adrenal insufficiency, Hepatic steatosis, Pancreatitis...	OMIM:619386
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia, Bradykinesia	ORPHA:391411
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se...	OMIM:615476
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatic steatosis, Cachexia, Distal arthrogryposis, Fatigue, Arrhythmia, Ataxia, He...	ORPHA:42
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis	ORPHA:446
Developmental And Epileptic Encephalopathy 31B	Involuntary movements, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Appendicular spas...	OMIM:620352
Canavan Disease	Epileptic spasm, Opisthotonus, Abnormal pyramidal sign, Hypsarrhythmia, Bilateral tonic-clonic se...	OMIM:271900
Acetazolamide-Responsive Myotonia	Hypothyroidism, Myotonia, Hypertonia	ORPHA:99736
Sulfite Oxidase Deficiency, Isolated	Ataxia, Hemiplegia, Bilateral tonic-clonic seizure, Hypertonia, Multifocal epileptiform discharge...	OMIM:272300
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Increased mean corpuscular volume, Atresia of the external auditor...	OMIM:300946
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Exercise-induced muscle fatigue, Hypoglycemia	ORPHA:230
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis, Myotonia	OMIM:613345
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hepatomegaly, Dysphagia	OMIM:618958
Orthostatic Hypotension 2	Anemia, Hypoglycemia	OMIM:618182
Behavioral Variant Of Frontotemporal Dementia	EEG with continuous slow activity, Fasciculations, Abnormality of extrapyramidal motor function, ...	ORPHA:275864
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Hypoglycemia, Fine hair, Intrauterine growth retardation, Dorsocervical fat pad...	ORPHA:391408
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Myoclonus, Seizure, Abnormality of extrapyramidal motor function	OMIM:604218
Autosomal Spastic Paraplegia Type 58	Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B...	ORPHA:397946
Familial Glucocorticoid Deficiency	Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating...	ORPHA:361
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia, Percussion myotonia, Rigidity, Clonic seizure, Focal-onset seizure	OMIM:620275
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Focal myoclonic seizure, Seizure, Progressive spastic paraplegia, Puberty and gonadal...	ORPHA:464282
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Torticollis, Vocal tremor	ORPHA:420485
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Unsteady gait, Gait ataxia, Recurrent hypoglycemia	OMIM:618158
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Hypoglycemia	OMIM:616111
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Action tremor, Dysmetria, Babinski sign, Apraxia, Bilateral ton...	ORPHA:93952
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Epileptic spasm, Hypsarrhythmia, Myoclonus	OMIM:619060
Infantile Cerebellar-Retinal Degeneration	Athetosis, Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia	OMIM:614559
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Handgrip myotonia, Myotonia, Tetraparesis, Limb fasciculations, Percussion-induced rapid rolling ...	ORPHA:324442
Combined Oxidative Phosphorylation Deficiency 51	Myoclonus, Rigidity	OMIM:619057
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypotension, Pituitary adenoma, Failure to thrive, Graves disease, Hepa...	ORPHA:199299
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi...	OMIM:600955
Mitochondrial Complex I Deficiency, Nuclear Type 15	Spastic tetraplegia, Bilateral tonic-clonic seizure	OMIM:618237
Diarrhea 13	Hepatic steatosis, Failure to thrive, Recurrent hypoglycemia	OMIM:620357
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Seizure, Interictal EEG abnormality, Clumsiness, Parkinsonism, Myoclonic...	ORPHA:79264
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Head tremor, Limb ataxia, Dys...	ORPHA:276198
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Cyanosis, EEG abnormality, Fasti...	OMIM:261680
Dihydrolipoamide Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Hypoglycemia, Ataxia	OMIM:246900
Spinocerebellar Ataxia 2	Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri...	OMIM:183090
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Graves disease, Periodic hypokalemic paresis, Exercise-induced muscle...	ORPHA:79102
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Seizure	ORPHA:250972
Pyruvate Dehydrogenase E3 Deficiency	Failure to thrive, Cardiomyopathy, Hypoglycemia, Abnormal cardiac ventricular function, Ataxia, H...	ORPHA:2394
Donohue Syndrome	Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Hypertrichosis, Cholestasis, Po...	OMIM:246200
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Seizure, Myoclonus, Babinski sign, Ataxia, Truncal ataxia	OMIM:252011
Combined Oxidative Phosphorylation Deficiency 36	Exercise intolerance, Myalgia, Failure to thrive, Hypoglycemia	OMIM:617950
Rippling Muscle Disease 2	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:606072
Myotonia, Potassium-Aggravated	Handgrip myotonia, Myotonia, Percussion myotonia	OMIM:608390
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Seizure, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Head ...	OMIM:618877
Developmental And Epileptic Encephalopathy 49	Spasticity, Myoclonic seizure, Facial-lingual fasciculations, Myoclonus, Tonic seizure, EEG abnor...	OMIM:617281
Combined Oxidative Phosphorylation Deficiency 27	Tetraparesis, Chorea, Myoclonus, Opisthotonus, Bilateral tonic-clonic seizure, Multifocal epilept...	OMIM:616672
Acute Adrenal Insufficiency	Weight loss, Arthralgia, Anorexia, Abdominal pain, Androgen insufficiency, Primary adrenal insuff...	ORPHA:95409
Myotonic Dystrophy 2	Handgrip myotonia, Insulin insensitivity, Myotonia, Hypogonadism, Type II diabetes mellitus, Elev...	OMIM:602668
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Exercise-induced muscle fatigue	ORPHA:2364
Glycogen Storage Disease Iii	Hepatic fibrosis, Cardiomyopathy, Hypoglycemia, Hepatomegaly, Short stature	OMIM:232400
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	EEG with generalized epileptiform discharges, Seizure, Limb hypertonia, EEG abnormality, Bilatera...	ORPHA:488613
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia	ORPHA:6
Episodic Ataxia Type 1	Myotonia, Clumsiness, Hypertonia, Poor coordination, Choreoathetosis	ORPHA:37612
Developmental And Epileptic Encephalopathy 68	Spasticity, Myoclonus, Clonus, Exaggerated startle response, Status epilepticus	OMIM:618201
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hypertonia, Foc...	OMIM:619854
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Sarcosinemia	Ataxia, Bilateral tonic-clonic seizure, Tetraparesis	ORPHA:3129
Pure Mitochondrial Myopathy	Exercise-induced muscle fatigue, Frequent falls	ORPHA:254854
Stiff-Person Syndrome	Frequent falls, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Diabetes ...	OMIM:184850
D-2-Hydroxyglutaric Aciduria 1	Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clon...	OMIM:600721
Childhood Absence Epilepsy	Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes...	ORPHA:64280
Schindler Disease, Type I	Spasticity, Myoclonus, Seizure	OMIM:609241
Mitochondrial Complex I Deficiency, Nuclear Type 29	Increased muscle fatiguability	OMIM:618250
Propionic Acidemia	Hepatomegaly, Cardiomyopathy, Hypoglycemia, Arrhythmia	ORPHA:35
Aminoacylase 1 Deficiency	Bilateral tonic-clonic seizure, Seizure	OMIM:609924
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis, Myotonia	OMIM:170400
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Hyp...	OMIM:616113
Supranuclear Palsy, Progressive, 2	Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Irritability, Bradykin...	OMIM:609454
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Involuntary movements, Focal impaired awareness seizure, Hypoglycemia, Seizure, Incoordination, I...	ORPHA:480864
Glucocorticoid Deficiency 1	Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin...	OMIM:202200
Riboflavin Transporter Deficiency	Seizure, Hypogonadism, Myoclonus, Tremor, Ataxia, Diabetes insipidus	ORPHA:97229
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ...	OMIM:614736
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Seizure, Myoclonus, Dysmetria, Head titubation, Ataxia, Truncal ataxia	OMIM:250620
Early Infantile Epileptic Encephalopathy	Precocious puberty, Spasticity, Generalized non-motor (absence) seizure, Seizure, Episodic ataxia...	ORPHA:1934
Alexander Disease Type I	Spasticity, Seizure, Abnormal pyramidal sign, Ataxia, Palatal tremor	ORPHA:363717
Narp Syndrome	Seizure, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia	ORPHA:644
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Myotonia	OMIM:170500
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure	OMIM:301076
Parkinson Disease 17	Akinesia, Bradykinesia	OMIM:614203
Combined Malonic And Methylmalonic Acidemia	Impaired continence, Failure to thrive, Hypoglycemia	ORPHA:289504
Spinocerebellar Ataxia 13	Spasticity, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyramidal sign, Progres...	OMIM:605259
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Cognitive impairment	ORPHA:309246
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, Bilateral tonic-...	ORPHA:98795
Intellectual Developmental Disorder, Autosomal Dominant 42	Focal hemiclonic seizure, Hypsarrhythmia, EEG with generalized epileptiform discharges, Cerebral ...	OMIM:616973
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements, Infantile spasms, Hypsarrhythmia	OMIM:618374
Neurodegeneration With Brain Iron Accumulation 1	Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trait, Gait disturb...	OMIM:234200
Hereditary Hyperekplexia	Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Hypertonia, Ataxia	ORPHA:3197
Hyperekplexia 3	Bilateral tonic-clonic seizure, Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614618
Beta-Ketothiolase Deficiency	Ataxia, Hypotension, Hypoglycemia, Hyperglycemia, Body odor, Oral aversion, Weight loss, Anorexia...	ORPHA:134
Stormorken Syndrome	Increased muscle fatiguability	OMIM:185070
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen...	OMIM:201910
Peho Syndrome	Hypsarrhythmia, Undetectable visual evoked potentials, Myoclonus, Seizure	OMIM:260565
Developmental And Epileptic Encephalopathy 61	Focal clonic seizure, Spasticity, Bilateral tonic-clonic seizure with focal onset, Seizure	OMIM:617933
Pontocerebellar Hypoplasia, Type 2E	Spasticity, Myoclonic seizure, Infantile spasms, Myoclonus, Opisthotonus, Bilateral tonic-clonic ...	OMIM:615851
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Cardiomyopathy, Splenomegaly, Ataxia, Neonatal hypoglycemia, Agitation	OMIM:619046
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action...	ORPHA:101
Huntington Disease	Involuntary movements, Seizure, Chorea, Myoclonus, Rigidity, Babinski sign, Clumsiness, Clonus, B...	ORPHA:399
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi...	OMIM:613986
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, Episodic ataxia, Myoclonus, Tremor, Choreoathetosis	OMIM:312170
Developmental And Epileptic Encephalopathy 8	Tonic seizure, Bilateral tonic-clonic seizure, Hypertonia, Focal impaired awareness seizure, Exag...	OMIM:300607
Glycogen Storage Disease Ixa1	Hypoglycemia, Splenomegaly, Fatigue, Hepatomegaly, Growth delay	OMIM:306000
Nipah Virus Disease	Tremor, Myoclonus, Seizure	ORPHA:99825
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Br...	OMIM:614702
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Cerebral palsy, Seizure, Febrile seizure (within the age range of 3 months to 6 years...	OMIM:619847
Cog8-Cdg	Myoclonus, Seizure, Hypoglycemia, Ataxia	ORPHA:95428
3-Methylglutaconic Aciduria Type 7	Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnor...	ORPHA:445038
X-Linked Sideroblastic Anemia	Anemia, Glucose intolerance, Splenomegaly	ORPHA:75563
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Spasticity, Seizure, EEG with generalized slow activity, Interictal EEG abnormality, Infantile sp...	ORPHA:544503
Multiple Mitochondrial Dysfunctions Syndrome 7	Myoclonic seizure, Hypoglycemia, Seizure, Hyperglycemia, EEG with burst suppression, Infantile sp...	OMIM:620423
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:615637
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements, Seizure	ORPHA:397933
Hemochromatosis, Neonatal	Hepatic fibrosis, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Intrauterine growth retarda...	OMIM:231100
Sandhoff Disease, Infantile Form	Spasticity, Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated st...	ORPHA:309155
Gm1-Gangliosidosis, Type Iii	Myoclonus, Slurred speech, Seizure, Ataxia	OMIM:230650
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Spasticity, Seizure, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor funct...	ORPHA:79279
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Chorea,...	ORPHA:53351
Classic Galactosemia	Hypoglycemia, Gait imbalance, Attention deficit hyperactivity disorder, Decreased serum insulin-l...	ORPHA:79239
Sialidosis Type 1	Seizure, Decreased nerve conduction velocity, Myoclonus, Tremor, EEG abnormality, Ataxia, Slurred...	ORPHA:812
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Hypoglycemia, Intrauterine growth retardation, Dysmetria, Aggressive behavior, At...	OMIM:617710
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Hsd10 Disease, Infantile Type	Hypoglycemia, Hypertrophic cardiomyopathy, Cyanosis, Loss of ambulation, Dysphagia, Restlessness,...	ORPHA:391428
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Myotonia	OMIM:254950
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Intrauterine growth retardation, Loss of ambulation, Sparse hair, Dysphagia, Small ...	OMIM:618253
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6...	OMIM:620292
Baker-Gordon Syndrome	Involuntary movements, Hyperkinetic movements, EEG abnormality, Ataxia, Athetoid cerebral palsy, ...	OMIM:618218
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness...	ORPHA:100924
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Short stature, Grow...	OMIM:261750
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Seizure, Myoclonus, Clumsiness, Paraparesis, Lower limb spasticity, Ataxia, Bradykine...	OMIM:617854
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Fine hair, Recurrent hypoglycemia, Intrauterine growth retardation, Gait ataxia, Hypothyroidism, ...	OMIM:616817
Mitochondrial Complex I Deficiency, Nuclear Type 18	Myoclonic seizure, Myoclonus, Hypertonia	OMIM:618240
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized-o...	OMIM:612949
Episodic Ataxia, Type 2	Progressive cerebellar ataxia, Myotonia, Episodic ataxia	OMIM:108500
Developmental And Epileptic Encephalopathy 2	Seizure, Generalized-onset seizure, Infantile spasms, Myoclonus, Hypsarrhythmia, EEG with general...	OMIM:300672
Glycogen Storage Disease Vii	Exercise-induced muscle fatigue	OMIM:232800
Addison Disease	Adrenal calcification, Weight loss, Arthralgia, Anorexia, Hypoparathyroidism, Abdominal pain, Thy...	ORPHA:85138
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, EEG with generalized sharp slow waves, EEG with focal sharp waves, Infantile spasms, Hyp...	ORPHA:79243
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Seizure, Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoc...	OMIM:618060
Sheehan Syndrome	Central adrenal insufficiency, Arthralgia, Decreased serum estradiol, Sparse pubic hair, Breast h...	ORPHA:91355
Gaucher Disease, Type Iii	Spastic paraparesis, Myoclonus, Generalized myoclonic seizure, Ataxia	OMIM:231000
Mitochondrial Complex I Deficiency, Nuclear Type 13	Spasticity, Focal motor seizure, Bilateral tonic-clonic seizure	OMIM:618235
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Decreased response to growth hormone stimulation test, Tremor, Hyperkinetic movements, B...	ORPHA:457240
Galactokinase Deficiency	Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hepatomegaly, Small for ge...	ORPHA:79237
Tenorio Syndrome	Cerebral palsy, Seizure, Hypoglycemia, Clumsiness, Hypoinsulinemia	OMIM:616260
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Carnitine Palmitoyl Transferase 1A Deficiency	Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Fatigue, Hepatomegaly, Sudden cardiac death	ORPHA:156
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio...	ORPHA:94086
Thomsen And Becker Disease	Myotonia	ORPHA:614
Alzheimer Disease 3	Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Apraxia, Optic a...	OMIM:607822
Dystonia 26, Myoclonic	Blepharospasm, Myoclonus, Torticollis	OMIM:616398
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Hypertonia, Ataxia, Intention tremor	OMIM:616505
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Seizure, Epileptic spasm, Myoclonus, Appendicular spasticity, Hypsarrhythmia	OMIM:617669
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Babinski sign, Clu...	OMIM:617282
Mepan Syndrome	Spasticity, Chorea, Myoclonus, Ataxia, Abnormality of visual evoked potentials	ORPHA:508093
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Short statur...	OMIM:248360
Intellectual Developmental Disorder, Autosomal Dominant 74	Bilateral tonic-clonic seizure, Typical absence seizure, Hypertonia	OMIM:620688
Abeta Amyloidosis, Iowa Type	Myoclonus	ORPHA:324708
Hyperekplexia 1	Seizure, Myoclonus, Nocturnal seizures, Hypertonia, Exaggerated startle response, Frequent falls	OMIM:149400
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, ...	ORPHA:94090
Hypotonia-Cystinuria Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Postnatal growth retard...	OMIM:606407
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Night sweats, Low back pain, Neoplasm of the liver, Weight ...	ORPHA:2126
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Babinski sign, Myoclonus, Rigidity	OMIM:600795
Hyperkalemic Periodic Paralysis	Myotonia, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Hypertonia	ORPHA:682
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Seizure, Speech apraxia, Epileptic spasm, Myoclonus, Bilateral tonic-clonic seizure with generali...	ORPHA:314655
Laron Syndrome	Severe short stature, Hypoglycemia, Hypohidrosis, Delayed puberty, Truncal obesity, Abnormality o...	ORPHA:633
Pitt-Hopkins-Like Syndrome 1	Spasticity, Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, EEG ...	OMIM:610042
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Myoclonus, Ataxia	OMIM:560000
Muscular Dystrophy, Barnes Type	Myotonia	OMIM:158800
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketo...	ORPHA:5
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Myoclonus,...	OMIM:619229
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Abdominal pain, Pancreatitis, Hypoglycemia	OMIM:620137
Supranuclear Palsy, Progressive, 1	Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Irritability, Bradykin...	OMIM:601104
Glucocorticoid Deficiency 3	Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c...	OMIM:609197
Carnitine Deficiency, Systemic Primary	Failure to thrive, Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Decreased...	OMIM:212140
Myotonia Permanens	Myotonia, Hypertonia	ORPHA:99735
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Myotonia	ORPHA:371
Rabson-Mendenhall Syndrome	Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss...	ORPHA:769
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Hypoglycemia	OMIM:614741
Glycogen Storage Disease Ixc	Hypoglycemia, Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cir...	OMIM:613027
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, Inguinal hernia, Att...	ORPHA:397590
Dystonia 34, Myoclonic	Head tremor, Myoclonus, Hand tremor, Torticollis	OMIM:619724
Intellectual Developmental Disorder, X-Linked 30	Bilateral tonic-clonic seizure, Clumsiness, Seizure, Generalized non-motor (absence) seizure	OMIM:300558
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spasticity, Pseudobulbar paralysis, Rigidity, Hemiparesis, Spastic ataxia, Abnormal pyramidal sig...	ORPHA:199354
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Inability to walk, Failure to thrive, Hypoglycemia	OMIM:614739
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Involuntary movements, Myoclonic seizure, Seizure	OMIM:615716
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Exercise intolerance, Portal fibrosis, Failure to thrive, Hypoglycemia, Cardiom...	ORPHA:264580
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Truncal ataxia, Chorea, Bilateral tonic-clonic seizure	ORPHA:369840
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Hypotension, Dilated cardiomyopathy, Recurrent hypoglycemia, Lipid accumulation in hepato...	ORPHA:20
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Type I diabetes mellitus, Elevated circulating luteinizing hormone level, Febrile seizure (within...	ORPHA:3044
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad...	ORPHA:95496
Developmental And Epileptic Encephalopathy 101	Opisthotonus, Myoclonus, Seizure	OMIM:619814
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Hepatic steatosis, Premature v...	OMIM:212138
Distal Myopathy, Tateyama Type	Percussion-induced rapid rolling muscle contractions, Clumsiness	ORPHA:488650
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Seizure, Epileptic spasm, Myoclonus, Hypsarrhythmia, Vocal cord paralysis	ORPHA:500144
Japanese Encephalitis	Pill-rolling tremor, Decreased motor nerve conduction velocity, EEG with burst suppression, Cogwh...	ORPHA:79139
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Spasticity, Seizure, Decreased nerve ...	ORPHA:206436
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Bilateral toni...	OMIM:602481
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Exercise intolerance, Aborted sudden cardiac death, Dilated cardiomyopa...	OMIM:614921
Parkinson Disease 23, Autosomal Recessive Early-Onset	Dementia, Mental deterioration, Akinesia	OMIM:616840
Lissencephaly 9 With Complex Brainstem Malformation	Involuntary movements, Spasticity, Myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-...	OMIM:618325
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Fatigue, Gait ataxia, Hypoglycemia	OMIM:616355
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia	OMIM:615160
D-Glyceric Aciduria	Myoclonus, Spasticity, Chorea, Seizure	ORPHA:941
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal...	OMIM:137440
Myoclonic Epilepsy Of Lafora 1	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit...	OMIM:254780
Timothy Syndrome	Atrioventricular block, Hypoglycemia, Sudden death, Pulmonary arterial hypertension, Hypothyroidi...	OMIM:601005
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi...	ORPHA:226307
Hypoadrenocorticism, Familial	Cyanosis, Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia	OMIM:240200
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Seizure, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, Neonatal hy...	OMIM:616271
Zebra Body Myopathy	Handgrip myotonia, Torticollis	ORPHA:97240
Microcephaly, Amish Type	Myoclonus, Limb hypertonia	OMIM:607196
Unilateral Polymicrogyria	Involuntary movements, Focal impaired awareness seizure, Seizure, Pseudobulbar paralysis, Giant s...	ORPHA:268943
Glycosylphosphatidylinositol Biosynthesis Defect 17	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Febrile seizure (within t...	OMIM:618010
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Decreased nerve conduction velocity, Intrauterine growth retardation, Loss of ambul...	ORPHA:565624
Gerstmann-Straussler-Scheinker Syndrome	Gait ataxia, Limb myoclonus, Abnormality of extrapyramidal motor function	ORPHA:356
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Myotonia	OMIM:255710
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Spastic paraplegia, Focal myoclonic seizure, Seizure, Cerebral palsy, Hyperaldosteronism, Adrenal...	ORPHA:369929
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola...	ORPHA:95613
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Oral-pharyngeal dysphagia, Torsade de pointes, Hypertrophic cardiomyopathy, Gait at...	OMIM:616878
Alexander Disease Type Ii	Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Ataxia, Palatal tremor	ORPHA:363722
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Ketotic hypoglycemia, Short stature	ORPHA:2089
Alfadhel Syndrome	Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure	OMIM:620655
Mitochondrial Trifunctional Protein Deficiency	Exercise intolerance, Tip-toe gait, Cardiomyopathy, Congestive heart failure, Failure to thrive i...	ORPHA:746
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria	OMIM:619780
Aceruloplasminemia	Memory impairment, Chorea, Limb ataxia, Gait ataxia, Akinesia, Cognitive impairment, Ataxia	ORPHA:48818
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Percussion myotonia	ORPHA:34516
Spinocerebellar Ataxia Type 13	Seizure, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Bradykinesia, Titubation	ORPHA:98768
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, EEG with generalized epileptiform discharges, Seizure, Cerebral palsy, EEG wi...	ORPHA:163681
Bachmann-Bupp Syndrome	Hypoglycemia, Large for gestational age, Sparse eyelashes, Aggressive behavior, Attention deficit...	OMIM:619075
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Fai...	ORPHA:90791
Pyruvate Carboxylase Deficiency	Hepatomegaly, Athetosis, Hypoglycemia	OMIM:266150
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Failure to thrive, Fasting hyperinsulinemia, Hypertrophic cardiomyopathy,...	ORPHA:71212
Epilepsy, Progressive Myoclonic, 10	Spasticity, Generalized myoclonic seizure, Seizure, Myoclonus, Spastic ataxia, Ataxia, Spastic te...	OMIM:616640
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hyperhidrosis, Growth delay	OMIM:245400
Neurodevelopmental Disorder With Spasticity And Poor Growth	Spasticity, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Opisthotonus, Babinski sign,...	OMIM:618076
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Epilepsia partialis continua, Hypoglycemia, Myoclonus, Gait ataxia, Appendicular spastici...	OMIM:620451
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Spasticity, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, EEG with frontal ...	ORPHA:457351
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617468
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Hypotension, Ectopic anterior pituitary gland, Hypoglycemia, Hypopit...	ORPHA:90695
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Short stature, Hypoglycemia	ORPHA:364
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, EEG with bu...	OMIM:614231
Silver-Russell Syndrome 2	Short stature, Intrauterine growth retardation, Neonatal hypoglycemia, Hyperhidrosis	OMIM:618905
Propionic Acidemia	Failure to thrive, Hypoglycemia, Cardiomyopathy, Hepatomegaly, Cerebellar hemorrhage, Pancreatiti...	OMIM:606054
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Undetectable visual evoked potentials, Babinski sign, Clonus, Limb hypertonia, Bilateral tonic-cl...	ORPHA:423479
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic paraplegia, Seizure, Myoclonus, Babinski sign, Abnormal pyramidal sign, Ataxia, Spastic g...	OMIM:620538
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Re...	ORPHA:293978
Myotonic Dystrophy 1	Testicular atrophy, Myotonia, Hypogonadism	OMIM:160900
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Myoclonus, Seizure	OMIM:616158
Autosomal Recessive Spastic Paraplegia Type 77	Seizure, Progressive spastic paraplegia, Myoclonus, Babinski sign, Scissor gait, Lower limb spast...	ORPHA:466722
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c...	ORPHA:786
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Spastic paraplegia, Seizure, Myoclonus, Opisthotonus, Oculomot...	OMIM:614969
Myopathy, X-Linked, With Excessive Autophagy	Myotonia	OMIM:310440
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Continuous spike and waves during slow sleep, Generalized non-motor (absence) seizure, Hypoglycem...	OMIM:620224
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Early-Onset Autosomal Dominant Alzheimer Disease	Seizure, Myoclonus, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia	ORPHA:1020
X-Linked Intellectual Disability Due To Gria3 Mutations	Spasticity, Seizure, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Status epilepticus	ORPHA:364028
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyebrow, Dilated cardiomyopathy, Failure to thrive, Hypoketotic hypoglycemia, Sp...	OMIM:610768
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia	OMIM:614299
Partial Atrioventricular Septal Defect	Exercise-induced muscle fatigue	ORPHA:1330
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Myoclonic seizure, Focal impaired awareness seizure, Epileptic spasm, Gait ataxia, Opisthotonus, ...	OMIM:619580
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Failure to thrive, Hypoglycemia, Congestive heart failure, Severely reduc...	OMIM:620609
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	EEG with abnormally slow frequencies, Seizure, Myoclonus, Tremor, EEG abnormality, Ataxia	ORPHA:98794
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Severel...	OMIM:620646
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Seizure, Interictal EEG abnormality, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Clonu...	OMIM:301310
Angelman Syndrome	Ataxia, Precocious puberty in females, Seizure, Delayed menarche, Infantile spasms, Myoclonus, Tr...	ORPHA:72
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Seizure, Hypoglycemia, Myoclonus, Clonus, Status epilepticus, Neonatal hypoglycemia, Spastic tetr...	OMIM:619055
Congenital Myopathy 9A	Short stature, Obesity, Akinesia	OMIM:618822
Melas	Type I diabetes mellitus, Seizure, Abnormal central motor function, Type II diabetes mellitus, My...	ORPHA:550
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Tay-Sachs Disease	Precocious puberty, Typical absence seizure, Seizure, Fasciculations, Incoordination, Myoclonus, ...	ORPHA:845
Valinemia	Hyperkinetic movements	OMIM:277100
Hyperekplexia 2	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614619
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Seizure, Hypoglycemia, Myoclonus, EEG abnormality	OMIM:246450
Congenital-Onset Steinert Myotonic Dystrophy	Speech apraxia, Myotonia, Poor fine motor coordination	ORPHA:589821
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Thick eyebrow, Fasting hypoglycemia, Decreased response to growth hormone stimulat...	ORPHA:436174
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Seizure, Chorea, Infantile spasms, Myoclonus, Gait ataxia, Hypsarrhythmia, Ataxia, Spastic tetrap...	OMIM:618321
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Spastic ...	OMIM:605711
Myofibrillar Myopathy 10	Percussion myotonia	OMIM:619040
Pancreatic And Cerebellar Agenesis	Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Reduced subcutaneous adipo...	OMIM:609069
Neuraminidase Deficiency	Myoclonus, Seizure, Dysmetria, Slurred speech	OMIM:256550
Bilateral Polymicrogyria	Central hypothyroidism, Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spa...	ORPHA:268940
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Spasticity, Myoclonic seizure, Cerebral palsy, Decreased circulating renin level, Bilateral tonic...	OMIM:615474
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena...	OMIM:201400
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Limb myoclonus, Seizure, Primary adrenal insufficiency, Dysmetria, Hemiparesis...	ORPHA:139396
Smith-Kingsmore Syndrome	Rhizomelia, Hypoglycemia, Umbilical hernia, Large for gestational age, Curly hair	OMIM:616638
Juvenile Sialidosis Type 2	Spasticity, Seizure, Myoclonus, Dysmetria, Lower limb spasticity, Ataxia, Generalized myoclonic s...	ORPHA:93399
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Dysdiadochokinesis, Seizure, Glucose intolerance, Myoclonus, Inten...	OMIM:208900
Combined Oxidative Phosphorylation Deficiency 14	Myoclonic seizure, Myoclonus, EEG abnormality, Seizure	OMIM:614946
Congenital Insensitivity To Pain With Severe Intellectual Disability	Multifocal epileptiform discharges, Bilateral tonic-clonic seizure	ORPHA:453510
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Exercise intolerance, Recurrent hypoglycemia, Postnatal growth retardation, Mya...	ORPHA:79240
Adenylosuccinase Deficiency	Spasticity, Seizure, Hemiplegia, Myoclonus, Gait ataxia, Opisthotonus	OMIM:103050
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Combined Oxidative Phosphorylation Deficiency 57	Seizure, Myoclonus, Central diabetes insipidus, Nephrogenic diabetes insipidus, Diabetes insipidus	OMIM:620167
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ...	OMIM:231530
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Bilateral tonic-clonic seizure	OMIM:619356
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia	OMIM:618838
Glycogen Storage Disease Ixd	Exercise intolerance, Exercise-induced myalgia, Hypoglycemia	OMIM:300559
Lissencephaly Due To Tuba1A Mutation	Spasticity, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:171680
Mitochondrial Complex I Deficiency, Nuclear Type 20	Exercise intolerance, Dilated cardiomyopathy, Hypoglycemia, Congestive heart failure, Hypertrophi...	OMIM:611126
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Myalgia, Mitral regur...	OMIM:620300
Galloway-Mowat Syndrome 10	Congenital hypothyroidism, Myoclonus	OMIM:619609
Microcephaly-Capillary Malformation Syndrome	Spastic tetraparesis, Infantile spasms, Myoclonus, Seizure	OMIM:614261
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:618354
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se...	OMIM:619835
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Ankle clonus, Babinski sign,...	OMIM:615398
Coenzyme Q10 Deficiency, Primary, 1	Seizure, Myoclonus, Tremor, Right hemiplegia, Ataxia, Status epilepticus, Hypergonadotropic hypog...	OMIM:607426
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Intrauterine growth retardation, Cardiomyopathy, Hypoglycemia	OMIM:618839
Early-Onset Lafora Body Disease	Spastic tetraparesis, Myoclonus, Seizure, Ataxia	ORPHA:324290
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Intrauterine growth retardatio...	OMIM:618835
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Hypoglycemia, Large for gestational age, Hepatomegaly, Short stature, Diabetes mellitus	OMIM:616026
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Myotonia	ORPHA:391307
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Myoclonus, Seizure, Hypertonia	ORPHA:3078
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Myoclonic seizure, Cerebral palsy, Appendicular spasticity, Limb hypertonia, Bilateral tonic-clon...	OMIM:620070
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Cardiomyopathy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly	OMIM:251000
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia	ORPHA:664
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Cholestasis, Hypoketotic hyp...	OMIM:609015
Dpagt1-Cdg	Ataxia, Head-banging, Failure to thrive, Hypertrichosis, Inability to walk, Stereotypical body ro...	ORPHA:86309
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure,...	OMIM:613839
Pseudoleprechaunism Syndrome, Patterson Type	Premature adrenarche, Bilateral tonic-clonic seizure, Atonic seizure, Increased circulating andro...	ORPHA:2976
Parkinsonian-Pyramidal Syndrome	Spasticity, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Bradykines...	ORPHA:171695
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hepatocel...	OMIM:256810
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Polyminimyoclonus, Tremor, Fasciculations	OMIM:619574
Silver-Russell Syndrome	Premature adrenarche, Precocious puberty, Insulin resistance, Recurrent hypoglycemia, Failure to ...	ORPHA:813
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hypoketotic hypoglycemia, Ventricular tachycardia, Hepatomegaly, Macroves...	OMIM:600649
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Spasticity, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Hypogonadism,...	ORPHA:79351
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Failure to thrive, Glycosuria, Abnormal hepatic glycogen storage, Inc...	ORPHA:2088
Leigh Syndrome	Alopecia, Failure to thrive, Hypoglycemia, Hypertrichosis, Hypertrophic cardiomyopathy, Congestiv...	ORPHA:506
Adult-Onset Cervical Dystonia, Dyt23 Type	Head tremor, Myoclonus, Limb tremor, Torticollis	ORPHA:420492
Hyperphenylalaninemia, Bh4-Deficient, B	Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis	OMIM:233910
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Oculomotor ...	ORPHA:247262
Richieri Costa-Da Silva Syndrome	Handgrip myotonia, Myotonia of the upper limb	ORPHA:3101
Congenital Myopathy 12	Joint contracture of the hand, Akinesia, Camptodactyly, Jaw contracture, Small for gestational age	OMIM:612540
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Handgrip myotonia, Exaggerated startle response, Seizure, Ataxia	ORPHA:438216
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure	OMIM:616083
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Focal clonic seizure, Intention tremor, Bilateral tonic-clonic seizure	OMIM:618381
Intellectual Developmental Disorder, X-Linked 98	Central hypothyroidism, Atonic seizure, Generalized non-motor (absence) seizure, Infantile spasms...	OMIM:300912
Brain-Lung-Thyroid Syndrome	Involuntary movements, Elevated circulating thyroid-stimulating hormone concentration, Incoordina...	ORPHA:209905
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Akinesia, Hypothyroidism, Growth delay, Small for gestational age	OMIM:619147
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Myoclonus, Babinski sign, Limb hypertonia, Limb tremor, Torticollis, Exaggerated s...	OMIM:608643
Molybdenum Cofactor Deficiency, Type C	Generalized-onset seizure, Limb hypertonia, Hypertonia, Bilateral tonic-clonic seizure, Generaliz...	OMIM:615501
X-Linked Emery-Dreifuss Muscular Dystrophy	Myotonia, Vocal cord paralysis	ORPHA:98863
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ...	OMIM:612953
Whipple Disease	Insulin resistance, Seizure, Myoclonus, Abnormal pyramidal sign, Hypothyroidism, Ataxia	ORPHA:3452
Hyperglycinemia, Lactic Acidosis, And Seizures	Myoclonus, Spastic tetraplegia, Seizure	OMIM:614462
Emery-Dreifuss Muscular Dystrophy	Myotonia, Vocal cord paralysis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Myotonia, Vocal cord paralysis	ORPHA:98853
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Fasting h...	OMIM:180860
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,...	ORPHA:99901
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Hirsutism, Hypothyroidism, Join...	OMIM:618005
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus	ORPHA:168593
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Gait disturbance, Hyperactivity, Curly hair, Neonatal hypoglycemia	ORPHA:457485
Deeah Syndrome	Decreased response to growth hormone stimulation test, Panhypopituitarism, Intrauterine growth re...	OMIM:619004
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Hypoglycemia, Umbilical hernia, EEG abnormality, Small for gestational age	OMIM:614501
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Obesity, Hypoketotic hypoglycemia, Pain, Arrhythm...	ORPHA:26793
Infantile Liver Failure Syndrome 2	Jaundice, Cardiomyopathy, Hypoglycemia	OMIM:616483
Glycogen Storage Disease Ia	Hypoglycemia, Hypertension, Hepatomegaly, Delayed puberty, Pancreatitis, Fasting hypoglycemia, Sh...	OMIM:232200
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, EEG with parietal focal spike...	OMIM:301066
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Intrauterine growth retardation, EEG abnormality, Hypoglycemia, Congestive heart failure	OMIM:619355
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Intrauterine growth retardation, Microvesicular hepatic steatosis, Hypoth...	ORPHA:66634
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Hypoglycemia, Supernumerary nipple, Contracture of the proximal interph...	ORPHA:457279
Reni Syndrome	Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Ataxia	OMIM:617575
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Exercise intolerance, Cardiomyopathy, Hypoketotic hypoglycemia, Myalgia, Hepatic steatosis, Episo...	ORPHA:228305
Fatty Acid Hydroxylase-Associated Neurodegeneration	Progressive spastic paraplegia, Progressive spastic paraparesis, Progressive spastic quadriplegia...	ORPHA:329308
Lethal Congenital Contracture Syndrome 2	Akinesia, Dilated cardiomyopathy, Arthrogryposis multiplex congenita	OMIM:607598
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, EEG with burs...	OMIM:261740
Shigellosis	Hypovolemic shock, Hypoglycemia, Failure to thrive in infancy, Cholestasis, Asthenia, Peritonitis...	ORPHA:810
Immunodeficiency, Common Variable, 10	Hypoglycemia, Decreased response to growth hormone stimulation test, Alopecia totalis, Central ad...	OMIM:615577
Maple Syrup Urine Disease, Type Ia	Pancreatitis, Hypoglycemia, Ataxia	OMIM:248600
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Growth delay, Failure to thrive, Hypoglycemia	OMIM:615453
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Exercise intolerance, Atrioventricular block, Atrial flutter, Fai...	ORPHA:137675
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiomyopathy, Hypoketotic hypoglycemia, Cyanosis, Arrhythmia, Ventricular tachycar...	ORPHA:159
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Frontal balding, Weight loss, Neonatal hypoglycemia, Abnormal circulating d...	ORPHA:90794
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Postnatal growth ret...	OMIM:617093
Isolated Complex I Deficiency	Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, At...	ORPHA:2609
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Bilateral tonic-clonic seizure	OMIM:201475
Glutaric Acidemia I	Hepatomegaly, Choreoathetosis, Failure to thrive, Hypoglycemia	OMIM:231670
Mitochondrial Complex I Deficiency, Nuclear Type 28	Truncal ataxia, Akinesia, Choreoathetosis	OMIM:618249
Neuroferritinopathy	Blepharospasm, Involuntary movements, Resting tremor, Chorea, Babinski sign, Parkinsonism, Bradyk...	ORPHA:157846
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Seizure, Lower limb hypertonia	OMIM:169400
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Tongue fasciculations, Cataplexy, Seizure, Epileptic spasm, Generalized tonic seizure, Lower limb...	OMIM:617193
Sandhoff Disease	Ataxia, Spasticity, Myoclonic seizure, Fasciculations, Bilateral tonic-clonic seizure, Exaggerate...	OMIM:268800
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Spasticity, Focal myoclonic seizure, Seizure, Limb hypertonia, Bilateral tonic-clonic seizure, At...	ORPHA:481152
Optic Atrophy 11	Seizure, EEG with focal sharp waves, Dysmetria, Hyperkinetic movements, Gait apraxia, Ataxia, Dec...	OMIM:617302
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc...	OMIM:616007
Mirage Syndrome	Hypoglycemia, Adrenal insufficiency, Intrauterine growth retardation, Decreased body weight, Adre...	OMIM:617053
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Myotonia	ORPHA:98855
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Spastic paraparesis, Generalized non-motor (absence) seizure, Seizure, Focal-onset seizure, Hemip...	ORPHA:395
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Hypoglycemia	OMIM:210200
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Frequent falls, EMG: myotonic runs	ORPHA:353
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, C...	ORPHA:199351
Serotonin Syndrome	Seizure, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia	ORPHA:43116
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ataxia, Periportal fibrosis, Exercise intolerance, Failure to thrive, Hypoglycemia, Recurrent hyp...	OMIM:124000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Periportal fibrosis, Failure to thrive, Hypoglycemia, He...	OMIM:251880
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ...	ORPHA:90790
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Hypoglycemia, Hypertrichosis, Congestive heart failure, Intrauterine growth re...	OMIM:608779
Gaucher Disease, Perinatal Lethal	Intrauterine growth retardation, Hepatosplenomegaly, Akinesia, Splenomegaly, Decreased body weigh...	OMIM:608013
Developmental And Epileptic Encephalopathy 111	Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu...	OMIM:620504
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Central hypothyroidism, Fa...	ORPHA:508
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Intrauterine growth retardation, Akinesia, Multiple joint contractures, ...	ORPHA:994
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia, Thyroid carcinoma, Hashimoto thyroiditis, Telangiectasia, Cachexia, Angina pectoris...	ORPHA:109
Intellectual Developmental Disorder, Autosomal Dominant 53	Involuntary movements, Generalized non-motor (absence) seizure, Febrile seizure (within the age r...	OMIM:617798
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Infantile spasms, Lower limb spasticity, Clonus, Hypsarrhythmia, Myoclonic spasms, Hypertonia, Bi...	ORPHA:447997
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Bilateral tonic-clonic seizure, Hypertonia	ORPHA:79350
Jaberi-Elahi Syndrome	Gait ataxia, Appendicular spasticity, Tremor, Dysmetria, Bilateral tonic-clonic seizure, Choreoat...	OMIM:617988
Hermansky-Pudlak Syndrome 10	EEG abnormality, Focal myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617050
Ritscher-Schinzel Syndrome 4	Chorea, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Focal-onset seizure	OMIM:619435
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease...	ORPHA:94089
Shashi-Pena Syndrome	Highly arched eyebrow, Hypoglycemia, Hypertrichosis, Long eyelashes, Intrauterine growth retardat...	OMIM:617190
Wars2-Related Combined Oxidative Phosphorylation Defect	Athetosis, Cardiomyopathy, Difficulty walking, Intrauterine growth retardation, Dysmetria, Aggres...	ORPHA:572798
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Thyroiditis, Type I diabetes mellitus, Bilateral tonic-clonic seizure	ORPHA:436159
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram...	OMIM:613135
Cholestasis, Progressive Familial Intrahepatic, 5	Jaundice, Cirrhosis, Failure to thrive, Hypoglycemia	OMIM:617049
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Myoclonus, Seizure	OMIM:614922
Mitochondrial Complex I Deficiency, Nuclear Type 1	Undetectable visual evoked potentials, Exercise intolerance, Failure to thrive, Hypoglycemia, Con...	OMIM:252010
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Spasticity, Seizure, Generalized non-motor (absence) seizure, Babinski sign, Hypertonia, Bilatera...	OMIM:615802
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hyperkinetic movements, Seizure, Hypertonia	OMIM:236270
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hepatic steatosis, Fasting hypoglycemia, Hepatomegaly, Tachycardia, Neonatal hypogl...	ORPHA:348
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Apraxia, Bilateral tonic...	ORPHA:99885
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary...	ORPHA:95494
Schwartz-Jampel Syndrome, Type 1	Percussion myotonia	OMIM:255800
African Trypanosomiasis	Difficulty walking, Hepatosplenomegaly, Arrhythmia, Weight loss, Arthralgia, Urinary incontinence...	ORPHA:3385
Warburg Micro Syndrome 3	Myoclonic seizure, Ankle clonus, Lower limb spasticity, Bilateral tonic-clonic seizure, Spastic t...	OMIM:614222
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Myoclonus, Rigidity, Parkinsonism, Bradykinesia	OMIM:168601
Pyruvate Carboxylase Deficiency	Ataxia, Abnormal temper tantrums, Failure to thrive, Hypoglycemia, Tip-toe gait, Hyperglycemia, R...	ORPHA:3008
Congenital Sialidosis Type 2	Spasticity, Seizure, Myoclonus, Dysmetria, Ataxia	ORPHA:93400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Hypoglycemia, Elbow flexion contracture, Antenatal intracerebral hemorrha...	OMIM:608836
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Spasticity, Cataplexy, Febrile seizure (within the age range of 3 months to 6 years), Fasciculati...	ORPHA:496641
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Sparse eyelashes, Severe postnatal growth retardation, Patchy alopec...	ORPHA:35173
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Poor coordination, Myoclonic spasms	ORPHA:478029
Developmental And Epileptic Encephalopathy 95	Seizure, EEG with burst suppression, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, ...	OMIM:618143
Bone Marrow Failure Syndrome 5	Testicular atrophy, Bilateral tonic-clonic seizure, Hypogonadism	OMIM:618165
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Failur...	OMIM:619418
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Premature adrenarche, Precocious puberty, Insulin resistance, Failure to thrive, Decreased respon...	ORPHA:96182
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Infantile spasms, Decreased amplitude of sensory action pote...	OMIM:618733
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Nodular regenerative hyperplasia of liver, Hepatic fibrosis, Bi...	OMIM:620454
Basilicata-Akhtar Syndrome	Precocious puberty, Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Fatal Familial Insomnia	Myoclonus, Ataxia	OMIM:600072
Orofaciodigital Syndrome Type 3	Focal seizure with eyelid myoclonia, Spasticity, Oculomotor apraxia, Myoclonus	ORPHA:2752
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Generalized-onset seizure, Postural tremor, Gait ataxia, Myoclonus, Action tremor, Intention tremor	OMIM:254900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized non-motor (absence) seizure, Chorea, Infantile spasms, Myoclonus, Action tremor, Hype...	ORPHA:404454
Alternating Hemiplegia Of Childhood	Episodic hemiplegia, Tetraparesis, Seizure, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, Oc...	ORPHA:2131
Stuve-Wiedemann Syndrome 1	Myotonia, Seizure	OMIM:601559
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Myoclonus, Seizure, Ataxia	OMIM:619167
Glycogen Storage Disease Ib	Hypoglycemia, Splenomegaly, Hepatomegaly, Pancreatitis, Delayed puberty, Pancreatic fibrosis, Sho...	OMIM:232220
Nmda Receptor Encephalitis	Involuntary movements, Seizure, Generalized-onset seizure, Neoplasm of the thymus, Chorea, Myoclo...	ORPHA:217253
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Flexion contracture, Akinesia	OMIM:253290
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Seizure, Decreased nerve conduction velocity, Myoclonus, Absent ...	OMIM:609136
Immunodeficiency 10	Hypoglycemia, Splenomegaly, Amelogenesis imperfecta, Hypohidrosis, Hepatomegaly	OMIM:612783
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia	OMIM:619738
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hepatic steatosis, Aggressive behav...	ORPHA:17
Chromosome 22Q13 Duplication Syndrome	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:615538
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Hypotension, Failure to thrive, Adrenal calcifica...	ORPHA:289548
Glutaryl-Coa Dehydrogenase Deficiency	Exercise intolerance, Subdural hemorrhage, Fasting hypoglycemia, Ataxia, Retinal hemorrhage, Athe...	ORPHA:25
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Rhizomelia, Small for gestational age, Failure to thrive	OMIM:607143
Intellectual Developmental Disorder, Autosomal Dominant 34	Bilateral tonic-clonic seizure	OMIM:616351
Molybdenum Cofactor Deficiency, Type B	Seizure, Opisthotonus, Myoclonic spasms, Hypertonia, Bilateral tonic-clonic seizure, Spastic tetr...	OMIM:252160
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Spasticity, Tremor, Seizure	OMIM:300957
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Hypotension, Failure to thrive, Absence of second...	ORPHA:168558
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ...	OMIM:614207
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Hepatic steatosis, Pulmonary v...	ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 37	Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Macrovesicular hepatic steatosis, B...	OMIM:618329
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Intrahepatic cholestasis, Failure to thrive, Glycosuria, Postnatal gr...	OMIM:227810
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Seizure, Hyperkinetic movements, Photosensitive tonic-clonic seizure, Ataxia, Interictal epilepti...	OMIM:300243
Autoimmune Hypoparathyroidism	Autoimmune hypoparathyroidism, Hypocalcemic seizures, Myoclonic spasms	ORPHA:36913
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Intrauterine growth retardation, Akinesia, Joint contracture	OMIM:225790
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Menkes Disease	Atypical scarring of skin, Chondrocalcinosis, Gastrointestinal hemorrhage, Hypoglycemia, Umbilica...	ORPHA:565
Dystonia-Aphonia Syndrome	Myoclonus, Seizure	ORPHA:412217
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Kabuki Syndrome 2	Highly arched eyebrow, Sparse lateral eyebrow, Postnatal growth retardation, Intrauterine growth ...	OMIM:300867
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:301091
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Spastic tetraplegia, Myoclonic seizure, Focal impaired awareness seizure, Generalized-onset seizu...	OMIM:620024
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Abnormal auditory evoked potentials, Resting tremor, Seizure, Ab...	ORPHA:909
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Focal myoclonic seizure, Tetraparesis, Myoclonus, Paralysis, Hypert...	OMIM:203700
Sotos Syndrome	Sparse eyebrow, High anterior hairline, Glucose intolerance, Increased body weight, Aggressive be...	OMIM:117550
Congenital Disorder Of Deglycosylation 1	Involuntary movements, Myoclonic seizure, Seizure, Chorea, Myoclonus, Action tremor, Dysmetria, H...	OMIM:615273
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Gait ataxia, Myoclonus, Seizure	ORPHA:70595
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Dilated cardiomyopathy, Failure to thrive, Hypoglycemia	OMIM:251110
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Hypoglycemia	OMIM:229700
3P25.3 Microdeletion Syndrome	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	ORPHA:435638
Oculodentodigital Dysplasia	Ataxia, Hypoglycemia, Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morpholog...	ORPHA:2710
Webb-Dattani Syndrome	Spasticity, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone de...	OMIM:615926
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Long eyelashes, Obesity, Neonatal hypoglycemia, Broad lateral eyebrow	OMIM:608624
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Bilateral sensorineural hearing imp...	OMIM:616943
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Myoclonus, Seizure	ORPHA:251004
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Developmental And Epileptic Encephalopathy 89	Spasticity, Myoclonic seizure, Tetraparesis, Epileptic spasm, EEG with burst suppression, Hyperki...	OMIM:619124
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, HbH hem...	ORPHA:98791
9P13 Microdeletion Syndrome	Precocious puberty, Myoclonus, Hand tremor	ORPHA:324313
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Seizure, Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Bilateral t...	OMIM:617799
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Seizure, Speech apraxia, Chorea, Tremor, Hyperkinetic movements, Achalasia, EEG abnormality, Atax...	OMIM:615356
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Hyperinsulinemia, Muscle mounding	OMIM:613327
Immunodeficiency 59 And Hypoglycemia	High anterior hairline, Arteritis, Hypoglycemia, Prolonged neonatal jaundice, Hepatomegaly, Short...	OMIM:233600
Aica-Ribosiduria Due To Atic Deficiency	Hypoglycemia	OMIM:608688
Biotinidase Deficiency	Spastic paraparesis, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Focal mot...	ORPHA:79241
Cholera	Hypovolemic shock, Hypotension, Hypoglycemia, Tachycardia, Abdominal pain, Abdominal cramps	ORPHA:173
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Seizure, Postural tremor, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Status ep...	OMIM:301072
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemi...	OMIM:220111
Amish Lethal Microcephaly	Limb hypertonia, Bilateral tonic-clonic seizure	ORPHA:99742
Arthrogryposis Multiplex Congenita 5	Growth delay, Umbilical hernia, Elbow flexion contracture, Intrauterine growth retardation, Akine...	OMIM:618947
Steinert Myotonic Dystrophy	Handgrip myotonia, Insulin resistance, Male hypogonadism, Myotonia with warm-up phenomenon, Decre...	ORPHA:273
W Syndrome	Spasticity, Bilateral tonic-clonic seizure	ORPHA:2804
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Hypoglycemia, Congestive heart failure, Cholestasis, Intrauterine growth retar...	OMIM:617156
Multiple Acyl-Coa Dehydrogenase Deficiency	Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice	OMIM:231680
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Spasticity, Seizure, Generalized-onset seizure, Infantile spasms, Hyperkinetic movements, Athetosis	OMIM:612073
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Seizure, Myoclonus, Hypertonia, Ataxia, Bilateral tonic-clonic seizure	OMIM:618426
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Spleno...	OMIM:276700
Immunodeficiency 23	Cortical myoclonus, Myoclonus, Ataxia	OMIM:615816
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Failure to thrive, Hypoglycemia	OMIM:210210
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Spasticity, Seizure, Gait ataxia, Hyperkinetic movements, Babinski sign, Ataxia	OMIM:620089
Farber Disease	Spasticity, Seizure, Infantile spasms, Myoclonus, Paraparesis	ORPHA:333
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Overfolded helix, Cupped ear, Persistence of hemoglobin F	OMIM:617101
Idiopathic Camptocormia	Parkinsonism, Myotonia	ORPHA:1320
Leukodystrophy, Hypomyelinating, 10	Hyperkinetic movements, Babinski sign, Spasticity, Seizure	OMIM:616420
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Neuroblastoma	Elevated circulating catecholamine level, Myoclonus, Ataxia	ORPHA:635
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, EEG with generalized sharp slow waves, Generalized non-motor (absence) seizur...	ORPHA:369837
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Neuroblastoma, Susceptibility To, 1	Myoclonus, Ataxia	OMIM:256700
Glycerol Kinase Deficiency	Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Myalgia, Sh...	OMIM:307030
Meningioma	Increased circulating prolactin concentration, Hemifacial spasm, Hemiparesis, Neoplasm of the pos...	ORPHA:2495
Acute Liver Failure	Gastrointestinal hemorrhage, Hypotension, Hepatitis, Hypoglycemia, Hepatocellular necrosis, Hepat...	ORPHA:90062
Orthostatic Hypotension 1	Atrial fibrillation, Neonatal hypoglycemia, Reduced circulating prolactin concentration, Orthosta...	OMIM:223360
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:605911
Marburg Hemorrhagic Fever	Hypotension, Subconjunctival hemorrhage, Hypoglycemia, Shock, Myalgia, Bradycardia, Capillary lea...	ORPHA:99826
Rajab Interstitial Lung Disease With Brain Calcifications 1	Exercise intolerance, Failure to thrive, Hypoglycemia, Cholestasis, Slender build, Intrauterine g...	OMIM:613658
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Seizure, Myoclonus, Gait ataxia, Dysmetria, Babinski sign, Progressive gait ataxia, Ataxia, Frequ...	OMIM:607459
Schwartz-Jampel Syndrome	Blepharospasm, Myotonia, Hypertonia	ORPHA:800
Glycogen Storage Disease Ic	Spider hemangioma, Hypoglycemia, Chronic pancreatitis, Hepatoblastoma, Pulmonary arterial hyperte...	OMIM:232240
Perlman Syndrome	Large for gestational age, Congenital diaphragmatic hernia, Pancreatic islet-cell hyperplasia, Hy...	OMIM:267000
Niemann-Pick Disease Type C	Seizure, Cataplexy, Generalized-onset seizure, Speech apraxia, Chorea, Myoclonus, Focal-onset sei...	ORPHA:646
Scorpion Envenomation	Glycosuria, Seizure, Hemifacial spasm, Hyperglycemia, Myoclonus, Tremor, Hyperkinetic movements, ...	ORPHA:466677
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Holoprosencephaly	Highly arched eyebrow, Hypoglycemia, Failure to thrive in infancy, Panhypopituitarism, Abnormalit...	ORPHA:2162
Cerebral Visual Impairment	Attention deficit hyperactivity disorder, Neonatal hypoglycemia, Intracranial hemorrhage, Ischemi...	ORPHA:447788
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Failure to thrive, Hypoglycemia, Subdural hemorrhage,...	ORPHA:79282
De Sanctis-Cacchione Syndrome	Spasticity, Babinski sign, Scissor gait, Hypertonia, Ataxia, Bilateral tonic-clonic seizure, Chor...	OMIM:278800
Carnitine Palmitoyltransferase Ii Deficiency	Exercise intolerance, Cardiomyopathy, Hypoketotic hypoglycemia, Myalgia, Hepatic calcification, E...	ORPHA:157
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Hepatic steatosis, Arrhythmia	OMIM:255120
Mitochondrial Dna-Associated Leigh Syndrome	Spasticity, Seizure, Chorea, Infantile spasms, Gait ataxia, Hypertonia, Ataxia, Bilateral tonic-c...	ORPHA:255210
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Myoclonus, EEG abnormality, Testicular atrophy, Focal motor seizure, Gener...	ORPHA:3063
Weaver Syndrome	Spasticity, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Bilateral tonic-clonic ...	OMIM:277590
Kinsship Syndrome	Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure, Spastic tetra...	OMIM:619297
Molybdenum Cofactor Deficiency, Type A	Seizure, Opisthotonus, Myoclonic spasms, Spastic tetraparesis, Spastic tetraplegia	OMIM:252150
Alg12-Cdg	Failure to thrive, Recurrent hypoglycemia, Intrauterine growth retardation, Low posterior hairlin...	ORPHA:79324
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Myoclonic spasms, Hyperaldosteronism, Bilateral tonic-clonic seizure	ORPHA:73224
1Q44 Microdeletion Syndrome	Bilateral tonic-clonic seizure	ORPHA:238769
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Paraplegia, Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure, Inappropriate antidiuretic ...	ORPHA:79124
Glass Syndrome	Bilateral tonic-clonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:612313
Kufor-Rakeb Syndrome	Blepharospasm, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Hyperto...	ORPHA:306674
Pgm3-Cdg	Cortical myoclonus, Myoclonus, Seizure, Ataxia	ORPHA:443811
D-Bifunctional Protein Deficiency	Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Primary adrenal insufficienc...	OMIM:261515
Congenital Syphilis	Hypoglycemia, Intrauterine growth retardation, Hepatosplenomegaly, Pancreatitis, Myocarditis, Pro...	ORPHA:499009
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Seizure, Infantile spasms, Hypsarrhythmia, EEG abnormality, Hypertonia, Bilateral tonic-clonic se...	OMIM:301044
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Failure to thrive, Hypoglycemia, Glycosuria, Hepatic steatosis, Abdo...	OMIM:229600
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Hyperkinetic movements, Myoclonic seizure	OMIM:620469
Beckwith-Wiedemann Syndrome	Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Umbilical hernia, ...	ORPHA:116
Simpson-Golabi-Behmel Syndrome	Polysplenia, Hypoglycemia, Supernumerary nipple, Camptodactyly of finger, Umbilical hernia, Bundl...	ORPHA:373
Episodic Ataxia Type 7	Hyperkinetic movements, Episodic ataxia	ORPHA:209970
Opsoclonus-Myoclonus Syndrome	Rigidity, Myoclonus, Limb myoclonus, Ataxia	ORPHA:1183
Pseudohypoparathyroidism Type 1A	Involuntary movements, Pituitary resistance to thyroid hormone, Elevated circulating parathyroid ...	ORPHA:79443
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c, Thickened ears	ORPHA:79134
Ethylene Glycol Poisoning	Myoclonus, Slurred speech, Seizure, Ataxia	ORPHA:31826
Choreoacanthocytosis	Blepharospasm, Poor motor coordination, Involuntary movements, Resting tremor, Seizure, Decreased...	ORPHA:2388
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Hearing impairment, Persistence of hemoglobin...	OMIM:617052
Mosaic Variegated Aneuploidy Syndrome 1	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tetraplegia, Seizure	OMIM:257300
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Seizure, Limb hypertonia, Hypsarrhythmia, Bilateral tonic-clonic seizure, Spastic tet...	OMIM:620371
Lathosterolosis	Myoclonus, Seizure	ORPHA:46059
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability	OMIM:219090
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease...	ORPHA:79444
Combined Oxidative Phosphorylation Deficiency 3	Bilateral tonic-clonic seizure, Tremor, Seizure, Ataxia	OMIM:610505
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Epileptic spasm,...	OMIM:620455
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas...	OMIM:201750
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Spasticity, Seizure	OMIM:301040
Cocaine Intoxication	Involuntary movements, Seizure, Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Atyp...	ORPHA:90068
3-Methylglutaconic Aciduria, Type Viii	Growth delay, Failure to thrive, Bradycardia, Jaundice, Neonatal hypoglycemia, Dysphagia	OMIM:617248
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Increased theta frequency...	ORPHA:459070
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Diamond-Blackfan Anemia	Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence...	ORPHA:124
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic calcification, Arrhythmia, H...	ORPHA:228308
X Small Rings	Bilateral tonic-clonic seizure, Seizure	ORPHA:96201
Lujo Hemorrhagic Fever	Bilateral tonic-clonic seizure, Resting tremor, Seizure	ORPHA:319213
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Truncal ataxia, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:620066
Pediatric-Onset Graves Disease	Graves disease, Goiter, Puberty and gonadal disorders, Tremor, Increased circulating free T3, Hyp...	ORPHA:525731
Hereditary Fructose Intolerance	Reactive hypoglycemia, Abdominal pain, Hepatomegaly, Jaundice, Growth delay, Episodic hyperhidrosis	ORPHA:469
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, EEG with focal sharp waves, Chorea, EEG with spike-wave complexes, Hyperkinetic mo...	ORPHA:522077
Costello Syndrome	Failure to thrive, Hypoglycemia, Sudden death, Hypertrophic cardiomyopathy, Arrhythmia, Achilles ...	OMIM:218040
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:466943
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Hypoglycemia	OMIM:615751
Sialuria	Hyperkinetic movements, Seizure	ORPHA:3166
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Typical absence seizure, Atonic seizure, Seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:268261
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	EMG: myotonic runs	ORPHA:206549
Joubert Syndrome 1	Ataxia, Oculomotor apraxia, Hemifacial spasm	OMIM:213300
Holoprosencephaly 14	EEG abnormality, Bilateral tonic-clonic seizure	OMIM:619895
Neurooculorenal Syndrome	Ectopic posterior pituitary, Highly arched eyebrow, Central hypothyroidism, Recurrent hypoglycemi...	OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Seizure, Myoclonus, Enlarged flash visual evoked potentials, EEG abnormality	OMIM:253280
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Involuntary movements, Seizure, Bilateral tonic-clonic seizure on awakening, ...	ORPHA:438213
Listeriosis	Seizure, Myoclonus, Tremor, Hemiparesis, Ataxia	ORPHA:533
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Sparse eyebrow, Difficulty walking, Slender build, Large for gestational age, Gait ataxia, Broad ...	ORPHA:457359
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Combined Oxidative Phosphorylation Deficiency 15	Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Ataxia, Bilateral tonic-clonic seizure ...	OMIM:614947
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure	ORPHA:466950
Hallermann-Streiff Syndrome	Choreoathetosis, Bilateral tonic-clonic seizure	OMIM:234100
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Tonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619512
Primary Fanconi Renotubular Syndrome	Glycosuria, Hypoglycemia, Weight loss, Growth delay, Bone pain	ORPHA:3337
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure with focal onset, Seizure	ORPHA:488627
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Myoclonus, Tetraplegia, Seizure	OMIM:618278
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Spasticity, Seizure, Fasciculations, Myoclonus, Hypertonia	ORPHA:284339
Doors Syndrome	Congenital hypothyroidism, Myoclonus, Adrenal hyperplasia, EEG abnormality, Bilateral tonic-cloni...	ORPHA:79500
Oromandibular Dystonia	Blepharospasm, Torticollis, Hyperkinetic movements	ORPHA:93958
Lead Poisoning	Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology	ORPHA:330015
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Poliomyelitis	Fasciculations, Abnormal motor nerve conduction velocity, Hyperkinetic movements, Paralysis, Para...	ORPHA:2912
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin, Sensorineural hearing impairment	ORPHA:847
Ogden Syndrome	Generalized-onset seizure, Maternal diabetes, Hypertonia, Torticollis, Bilateral tonic-clonic sei...	OMIM:300855
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Adrenocortical carcinoma, Hepa...	OMIM:130650
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Bilateral tonic-clonic seizure, Myoclonic seizure, Gait ataxia, Seizure	OMIM:280000
Autosomal Dominant Hypocalcemia	Cortical myoclonus	ORPHA:428
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	ORPHA:513456
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Seizure, Hand tremor, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Ataxia, Generalized...	OMIM:614756
Gaucher Disease	Tremor, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor function, Oculomotor apraxia,...	ORPHA:355
Tick-Borne Encephalitis	Tongue fasciculations, Incoordination, Speech apraxia, Generalized-onset seizure, Tremor, Hyperki...	ORPHA:297
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Hartsfield Syndrome	Gonadotropin deficiency, Diabetes insipidus, Bilateral tonic-clonic seizure	OMIM:615465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353281
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Holoprosencephaly 1	Short stature, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia	OMIM:236100
Acrofacial Dysostosis, Cincinnati Type	Seizure, Abnormality of coordination, Infantile spasms, Myoclonus, Lower limb spasticity, Vocal c...	OMIM:616462
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bilateral tonic-clonic seizure, Tremor, Seizure, Generalized non-motor (absence) seizure	OMIM:612474
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Febri...	OMIM:620330
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Sotos Syndrome	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Tremor, Hypothyr...	ORPHA:821
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353277
Alkaptonuria	Methemoglobinemia, Hemolytic anemia	ORPHA:56
Kabuki Syndrome 1	Seizure, Congenital hypothyroidism, Bilateral tonic-clonic seizure with focal onset, Premature th...	OMIM:147920

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kcnj11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kcnj11.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The KCNJ11-E23K Gene Variant Hastens Diabetes Progression by Impairing Glucose-Induced Insulin Secretion.	Diabetes (February 2021)	Kcnj11^em1H	33568422
Molecular and functional characterization of the endothelial ATP-sensitive potassium channel.	The Journal of biological chemistry (September 2017)	Kcnj11^{tm1c(EUCOMM)Wtsi}	PMC5663864

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Kcnj11^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Kcnj11^{tm1c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Kcnj11^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Kcnj11^em1H	Point Mutation	Mice
Kcnj11^em2H	Point Mutation	Mice
Kcnj11^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Kcnj11 MGI:107501

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Embryo LacZ

Adult LacZ

X-ray

X-ray

Human diseases caused by Kcnj11 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data