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Gene: Gad2 MGI:95634

Gene Summary

Name:

glutamic acid decarboxylase 2

Synonyms:

GAD(65), Gad-2, 6330404F12Rik, GAD65

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
increased fasting circulating glucose level	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.13×10^-06
decreased locomotor activity	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.65×10^-08
decreased respiratory quotient	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.36×10^-05
increased circulating alkaline phosphatase level	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.83×10^-07
increased anxiety-related response	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.93×10^-06
increased thigmotaxis	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.26×10^-06
impaired glucose tolerance	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.01×10^-06
increased circulating chloride level	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.83×10^-06
increased vertical activity	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.68×10^-07
increased circulating sodium level	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.21×10^-06
decreased exploration in new environment	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.02×10^-07
decreased prepulse inhibition	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.69×10^-05
abnormal behavior	Gad2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.15×10^-06

Download data as: TSV XLS

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 1)
Aorta	N/A	heterozygote	0.0% (0 of 1)
Blood	N/A	heterozygote	0.0% (0 of 1)
Bone marrow	N/A	heterozygote	0.0% (0 of 1)
Bone	N/A	heterozygote	0.0% (0 of 1)
Brain	N/A	heterozygote	0.0% (0 of 1)
Brainstem	N/A	heterozygote	0.0% (0 of 1)
Brown adipose tissue	N/A	heterozygote	100% (1 of 1)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 1)
Cecum	N/A	heterozygote	0.0% (0 of 1)
Cerebellum	N/A	heterozygote	0.0% (0 of 1)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 1)
Chest bone	N/A	heterozygote	0.0% (0 of 1)
Colon	N/A	heterozygote	0.0% (0 of 1)
Cranium	N/A	heterozygote	0.0% (0 of 1)
Diaphragm	N/A	heterozygote	0.0% (0 of 1)
Epididymis	N/A	heterozygote	Not available
Esophagus	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Gall bladder	N/A	heterozygote	0.0% (0 of 1)
Harderian gland	N/A	heterozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hippocampus	N/A	heterozygote	0.0% (0 of 1)
Hypothalamus	N/A	heterozygote	0.0% (0 of 1)
Kidney	N/A	heterozygote	0.0% (0 of 1)
Large intestine	N/A	heterozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	0.0% (0 of 1)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 1)
Lung	N/A	heterozygote	0.0% (0 of 1)
Lymph node	N/A	heterozygote	0.0% (0 of 1)
Main olfactory bulb	N/A	heterozygote	0.0% (0 of 1)
Mammary gland	N/A	heterozygote	Not available
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 1)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 1)
Oral epithelium	N/A	heterozygote	0.0% (0 of 1)
Ovary	N/A	heterozygote	Not available
Oviduct	N/A	heterozygote	Not available
Pancreas	N/A	heterozygote	0.0% (0 of 1)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 1)
Parotid gland	N/A	heterozygote	0.0% (0 of 1)
Penis	N/A	heterozygote	Not available
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 1)
Peyer's patch	N/A	heterozygote	0.0% (0 of 1)
Pituitary gland	N/A	heterozygote	0.0% (0 of 1)
Prostate gland	N/A	heterozygote	Not available
Sciatic nerve	N/A	heterozygote	0.0% (0 of 1)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 1)
Skin	N/A	heterozygote	0.0% (0 of 1)
Small intestine	N/A	heterozygote	0.0% (0 of 1)
Spinal cord	N/A	heterozygote	0.0% (0 of 1)
Spleen	N/A	heterozygote	0.0% (0 of 1)
Stomach pyloric region	N/A	heterozygote	0.0% (0 of 1)
Stomach	N/A	heterozygote	0.0% (0 of 1)
Striatum	N/A	heterozygote	0.0% (0 of 1)
Sublingual gland	N/A	heterozygote	0.0% (0 of 1)
Submandibular gland	N/A	heterozygote	0.0% (0 of 1)
Testis	N/A	heterozygote	100% (1 of 1)
Thymus	N/A	heterozygote	0.0% (0 of 1)
Thyroid gland	N/A	heterozygote	0.0% (0 of 1)
Tongue	N/A	heterozygote	0.0% (0 of 1)
Trachea	N/A	heterozygote	0.0% (0 of 1)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 1)
Urinary bladder	N/A	heterozygote	0.0% (0 of 1)
Uterus	N/A	heterozygote	Not available
Vagina	N/A	heterozygote	Not available
Vas deferens	N/A	heterozygote	0.0% (0 of 1)
Vascular system	N/A	heterozygote	0.0% (0 of 1)
Vesicular gland	N/A	heterozygote	100% (1 of 1)
White adipose tissue	N/A	heterozygote	0.0% (0 of 1)

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone	0.0%
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
cranium
diaphragm	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
harderian gland
heart	0.0%
hindlimb	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%
main olfactory bulb	0.0%
mammary gland	0.0%
mesenteric lymph node
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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Adult LacZ

LacZ Images Wholemount

3 Images

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Human diseases caused by Gad2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Gad2 (0 diseases)
Human diseases predicted to be associated with Gad2 (990 diseases)

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

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

Disease	Matching phenotypes	Source
Epilepsy, Nocturnal Frontal Lobe, 2	Aggressive behavior, Depression, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Myoclonus-Dystonia Syndrome	Depression, Limb myoclonus, Myoclonus, Torticollis, Spinal myoclonus, Compulsive behaviors	ORPHA:36899
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Depression, Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, ...	OMIM:162350
Polymyoclonus, Infantile	Ataxia, Myoclonus, Irritability	OMIM:263550
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Involuntary movements, Emotional lability, Aggressive behavior, Bilateral tonic-clonic seizure, M...	OMIM:617171
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Irritability, Tonic seizure, Bilateral ...	OMIM:615006
Dystonia 11, Myoclonic	Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Compulsive behaviors	OMIM:159900
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Reduced social reciprocity, Torticollis, Atoni...	OMIM:611092
Myoclonic Epilepsy Of Infancy	Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb...	ORPHA:86909
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic...	OMIM:618357
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur...	OMIM:619970
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Depression, Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without p...	OMIM:204300
Epilepsy, Progressive Myoclonic, 12	Depression, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder, Bilateral tonic-cloni...	OMIM:619191
Chromosome 15Q11-Q13 Duplication Syndrome	Impaired ability to form peer relationships, Restrictive behavior, Seizure, Inflexible adherence ...	OMIM:608636
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Irritability, Clumsiness, Bilateral tonic-clonic seizure, Restlessness, Focal impaired awareness ...	OMIM:610003
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Up...	ORPHA:401901
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Depression, Seizure, Myoclonus, Emotional lability, Gait ataxia, Tremor, Abnormality of extrapyra...	OMIM:615362
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
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
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:619964
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Depression, Generalized-onset seizure, Bilateral tonic-clonic seizure wi...	ORPHA:101046
Developmental And Epileptic Encephalopathy 11	Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil...	OMIM:613721
Lennox-Gastaut Syndrome	Myoclonus, Focal-onset seizure, Irritability, Generalized tonic seizure, Aggressive behavior, Hyp...	ORPHA:2382
Glycine Encephalopathy 1	Hyperglycinuria, Seizure, Myoclonus, Irritability, Aggressive behavior, Hyperactivity, Restlessne...	OMIM:605899
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia	OMIM:208700
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-...	OMIM:614417
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus, Seizure	OMIM:217200
Intellectual Developmental Disorder, Autosomal Dominant 69	Attention deficit hyperactivity disorder, Intention tremor, Bilateral tonic-clonic seizure	OMIM:617863
Hereditary Geniospasm	Chin myoclonus, Abnormal social behavior	ORPHA:53372
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia	ORPHA:22
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo...	OMIM:615400
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure	OMIM:615127
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Infantile Spasms Syndrome	Infantile spasms, Myoclonus	ORPHA:3451
Creutzfeldt-Jakob Disease	Depression, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia, Hemiparesis, Irritability	OMIM:123400
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:616187
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Aggressive behavior, Attention deficit hyperactivity disorder, Lower limb spasticity, Bilateral t...	OMIM:619639
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to...	OMIM:254770
Seizures, Benign Familial Infantile, 5	Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Spasticity, Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior,...	ORPHA:208441
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Epilepsy, Familial Temporal Lobe, 8	Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons...	OMIM:616461
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor...	OMIM:612736
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus, Restless legs	OMIM:102300
Parasomnia, Sleep Bruxism Type	Bruxism, Myoclonus	OMIM:606840
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-...	OMIM:616056
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Speech apraxia...	ORPHA:725
Landau-Kleffner Syndrome	Speech apraxia, Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Atypic...	ORPHA:98818
Juvenile Myoclonic Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:307
Hyperphenylalaninemia, Bh4-Deficient, C	Seizure, Myoclonus, Tremor, Irritability, Hypertonia, Dysphagia, Choreoathetosis	OMIM:261630
Developmental And Epileptic Encephalopathy 43	Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactiv...	OMIM:617113
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Emotional l...	ORPHA:254343
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei...	OMIM:612691
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure	OMIM:612437
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Benign Adult Familial Myoclonic Epilepsy	Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor	ORPHA:86814
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Aggressive behavior, Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Lissencephaly 10	Myoclonic seizure, Focal impaired awareness seizure, Depression, Generalized non-motor (absence) ...	OMIM:618873
Myoclonus, Familial, 2	Limb myoclonus, Seizure	OMIM:618364
Epilepsy, Progressive Myoclonic, 9	Status epilepticus, Myoclonus, Gait ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Fre...	OMIM:616540
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl...	OMIM:618587
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral...	OMIM:617391
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Seizure, Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, At...	OMIM:245570
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Hand tremor, Myoclonus, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal mo...	OMIM:608105
Developmental And Epileptic Encephalopathy 12	Spasticity, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:613722
Developmental And Epileptic Encephalopathy 27	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil...	OMIM:616139
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Self-injurious behavior, Generalized myoclonic seizure, Seizure, Chorea, Abnormality of e...	ORPHA:382
Developmental And Epileptic Encephalopathy 24	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a...	OMIM:615871
Dravet Syndrome	Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz...	OMIM:607208
Myoclonic-Atonic Epilepsy	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention deficit hyp...	OMIM:616421
Salt And Pepper Developmental Regression Syndrome	Myoclonus, Irritability, Bilateral tonic-clonic seizure, Status epilepticus, Choreoathetosis	OMIM:609056
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Aggressive ...	OMIM:616409
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:613608
Developmental And Epileptic Encephalopathy 31A	Self-injurious behavior, Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-cloni...	OMIM:616346
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Developmental And Epileptic Encephalopathy 37	Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti...	OMIM:616981
Epilepsy, Progressive Myoclonic, 11	Seizure, Myoclonus, Rigidity, Ataxia, Intention tremor	OMIM:618876
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Tremor, Clumsiness, ...	ORPHA:2590
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure	OMIM:618425
Dentatorubral-Pallidoluysian Atrophy	Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Choreoathetosis	OMIM:125370
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:604403
Developmental And Epileptic Encephalopathy 53	Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate...	OMIM:617389
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Perioral Myoclonia With Absences	Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil...	ORPHA:139426
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Seizure	OMIM:240600
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Bilateral tonic-clonic seizure, Seizure	OMIM:614499
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Spinocerebellar Ataxia 48	Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Tremor, Babinski sign, Parkinsonism, Bi...	OMIM:618093
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Dystonia 3, Torsion, X-Linked	Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Tremor	OMIM:314250
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
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Epilepsy, Progressive Myoclonic, 6	Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Tremor, Bilateral ton...	OMIM:614018
Centralopathic Epilepsy	Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure	OMIM:117100
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Self-injurious behavior, Seizure, Myoclonus, Aggressive behavior, Limb tremor, Hypertonia, Focal ...	OMIM:300699
Developmental And Epileptic Encephalopathy 94	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	OMIM:615369
Myoclonic Epilepsy, Familial Infantile	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,...	OMIM:605021
Stxbp1-Related Encephalopathy	Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr...	ORPHA:599373
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favora...	ORPHA:314632
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Inappropriate behavior, Fasciculations, Abnormality of extrapyramidal motor...	ORPHA:275864
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
Generalized Epilepsy With Febrile Seizures-Plus	Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur...	ORPHA:36387
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Parkinson...	OMIM:605407
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia	OMIM:615924
Early Myoclonic Encephalopathy	Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal moto...	ORPHA:1935
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra...	OMIM:607317
Developmental And Epileptic Encephalopathy 59	Self-injurious behavior, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-c...	OMIM:617904
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614558
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ...	OMIM:619317
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Compulsive behaviors, Myoclonus, Agitation, Tremor	OMIM:619651
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,...	ORPHA:79262
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Gait ataxia, Dysmetria, Rigidity, Tremor, Delayed early-childhood social milestone development, T...	OMIM:618090
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure	OMIM:616341
Developmental And Epileptic Encephalopathy 109	Spasticity, Myoclonic seizure, Typical absence seizure, Myoclonus, Gait ataxia, Focal hemiclonic ...	OMIM:620145
Succinic Semialdehyde Dehydrogenase Deficiency	Self-injurious behavior, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) ...	OMIM:271980
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Juvenile Huntington Disease	Depression, Seizure, Chorea, Myoclonus, Gait ataxia, Irritability, Rigidity, Hyperactivity, Ataxi...	ORPHA:248111
Geniospasm 1	Chin myoclonus	OMIM:190100
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Epileptic spasm, Bruxism, Myoclonus, Stereotypical hand wringing, Hyp...	OMIM:618497
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ...	OMIM:613855
Intellectual Developmental Disorder, X-Linked 1	Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Atonic seizure	OMIM:309530
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont...	OMIM:616685
Epilepsy, Familial Adult Myoclonic, 1	Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:601068
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal pyramidal sign, Upper motor neuron ...	ORPHA:95434
Developmental And Epileptic Encephalopathy 32	Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo...	OMIM:616366
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Limb ataxia, Myoclonus, Bilateral tonic-clonic seizure, Truncal ataxia, Choreoa...	OMIM:616230
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure	OMIM:545000
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Myoclonic seizure, Myoclonus, Irritability, Tonic seizure, Bilateral tonic-clonic seizure, Hypert...	OMIM:617290
Developmental And Epileptic Encephalopathy 98	Refractory status epilepticus, Focal-onset seizure, Attention deficit hyperactivity disorder, Clo...	OMIM:619605
Developmental And Epileptic Encephalopathy 52	Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ...	OMIM:617350
Benign Familial Neonatal Epilepsy	Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni...	ORPHA:1949
Ceroid Lipofuscinosis, Neuronal, 8	Myoclonus, Seizure, Ataxia	OMIM:600143
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis	OMIM:300388
Dravet Syndrome	Incoordination, Action tremor, Obsessive-compulsive trait, Focal hemiclonic seizure, Parkinsonism...	ORPHA:33069
Clcn4-Related X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Upper limb spasticity, Depression, Seizure, Generalized non-motor (absen...	ORPHA:485350
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
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g...	OMIM:619290
Isolated Focal Cortical Dysplasia	Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ...	ORPHA:65683
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Epilepsy, Idiopathic Generalized	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Striatonigral Degeneration, Infantile, Mitochondrial	Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Motor tics, Clonus, Pa...	OMIM:500003
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Bilateral tonic-clonic seizure with ...	OMIM:619028
Episodic Ataxia, Type 9	Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status e...	OMIM:618924
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Self-injurious behavior, Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Inappro...	OMIM:614254
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia	OMIM:254800
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Cyanosis, Irritability, Impulsivity,...	OMIM:620423
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Bilateral tonic-clonic seizure	OMIM:104290
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure	OMIM:266100
Combined Saposin Deficiency	Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clonic seizure	OMIM:611721
Epilepsy, Familial Focal, With Variable Foci 4	Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ...	OMIM:617935
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior, Attenti...	OMIM:619157
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:604233
Cerebellar Atrophy, Developmental Delay, And Seizures	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:617643
Dystonia 26, Myoclonic	Blepharospasm, Depression, Myoclonus, Torticollis	OMIM:616398
Developmental Delay With Or Without Epilepsy	Ataxia, Spasticity, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile ...	OMIM:620540
Spinocerebellar Ataxia 17	Depression, Seizure, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Aggressive...	OMIM:607136
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Depression, Seizure, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormali...	ORPHA:13
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic status epilepticus,...	OMIM:611726
Lipase Deficiency, Combined	Pancreatitis, Type II diabetes mellitus	OMIM:246650
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Seizure, Reduced social reciprocity, Stereotypical hand wringing, Hyperk...	ORPHA:397933
Developmental And Epileptic Encephalopathy 34	Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s...	OMIM:616645
Severe Canavan Disease	Spasticity, Seizure, Oral-pharyngeal dysphagia, Irritability, Babinski sign, Elevated urine N-ace...	ORPHA:314911
Sarcosinemia	Tetraparesis, Emotional lability, Bilateral tonic-clonic seizure, Ataxia, Hypersarcosinuria	ORPHA:3129
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Depression, Seizure, Myoclonus, Irritability, Ataxia	OMIM:256730
Hsd10 Disease	Spastic paraparesis, Seizure, Abnormal urinary acylglycine profile, Myoclonus, Tremor, Rigidity, ...	ORPHA:391417
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic...	OMIM:618141
Developmental And Epileptic Encephalopathy 42	Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seiz...	OMIM:617106
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Spasticity, Febrile seizure (within the age range of 3 months to 6 years...	OMIM:618917
Rolandic Epilepsy	Depression, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic...	ORPHA:1945
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Frequent falls	OMIM:619647
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
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ...	ORPHA:726
Epilepsy, Familial Temporal Lobe, 2	Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate...	OMIM:608096
Dyskinesia, Limb And Orofacial, Infantile-Onset	Seizure, Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Progressive Myoclonic Epilepsy Type 3	Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:263516
Transient Neonatal Diabetes Mellitus	Failure to thrive, Seizure, Maturity-onset diabetes of the young, Hyperglycemia, Transient neonat...	ORPHA:99886
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Seizure, Epileptic spasm, Myoclonus, Attention deficit hyperactivity disorder, Ataxia, Erratic my...	OMIM:619971
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypernatremia, Irritability	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia, Irritability	OMIM:304800
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Focal atonic seizure, Bilateral ton...	ORPHA:101071
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Parkinsonism, Attention deficit hyperactivi...	OMIM:619725
Pontocerebellar Hypoplasia, Type 14	Myoclonic seizure, Infantile spasms, Focal-onset seizure, Delayed early-childhood social mileston...	OMIM:619301
Foxg1 Syndrome	Spasticity, Bruxism, Infantile spasms, Myoclonus, Focal-onset seizure, Reduced social reciprocity...	ORPHA:561854
Glut1 Deficiency Syndrome 1	Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis	OMIM:606777
Huntington Disease	Oral-pharyngeal dysphagia, Polyphagia, Clonus, Bradykinesia, Poor fine motor coordination, Involu...	ORPHA:399
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Hand tremor, Gait ataxia, Recurrent hand flapping, Dysphagia, Bilateral tonic-clonic seizure, Mot...	OMIM:617862
Mitochondrial Complex I Deficiency, Nuclear Type 12	Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Frequent falls, Generalized myoclonic...	OMIM:301020
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607631
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se...	OMIM:611364
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Spasticity, Generalized myoclonic seizure, Typical absence seizure, Spas...	ORPHA:208447
Central Diabetes Insipidus	Depression, Polydipsia, Hyponatremia, Lethargy, Anorexia	ORPHA:178029
Pandas	Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi...	ORPHA:66624
Epilepsy, Familial Temporal Lobe, 6	Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ...	OMIM:615697
Ceroid Lipofuscinosis, Neuronal, 2	Myoclonus, Seizure, Ataxia	OMIM:204500
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
Spinocerebellar Ataxia, Autosomal Recessive 12	Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Lower limb spasticity, Bilateral tonic-cloni...	OMIM:614322
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni...	ORPHA:79137
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Extrapyramidal dyskinesi...	ORPHA:71277
Progressive Myoclonic Epilepsy With Dystonia	Generalized myoclonic seizure, Hemiplegia, Myoclonus, Hemiparesis, Abnormality of extrapyramidal ...	ORPHA:352596
Developmental And Epileptic Encephalopathy 16	Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic seizure, Status epil...	OMIM:615338
Pontocerebellar Hypoplasia, Type 15	Myoclonic seizure, Infantile spasms, Focal-onset seizure, Delayed early-childhood social mileston...	OMIM:619302
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
Seizures, Benign Familial Infantile, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni...	OMIM:607745
Developmental And Epileptic Encephalopathy 69	Hyperkinetic movements, Spastic tetraplegia, Myoclonus, Status epilepticus	OMIM:618285
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Posttransplant Acute Limbic Encephalitis	Memory impairment, Depression, Confusion, Hyponatremia, Cognitive impairment, Ataxia	ORPHA:163921
Seizures, Benign Familial Infantile, 2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:605751
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia	OMIM:601410
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Seizure, Generalized-onset seizure, Aggressive b...	OMIM:619827
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressive behavior, R...	OMIM:600795
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Dysphagi...	OMIM:607346
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Seizure, Myoclonus, Dysmetria, Irritability, Head titubation, Ataxia, Truncal ataxia	OMIM:250620
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Spastic diplegia	OMIM:619065
Pyruvate Carboxylase Deficiency	Ataxia, Abnormal temper tantrums, Neonatal hyperbilirubinemia, Tip-toe gait, Hypoglycemia, Hyperg...	ORPHA:3008
Neurodevelopmental Disorder With Involuntary Movements	Self-injurious behavior, Involuntary movements, Spasticity, Chorea, Infantile spasms, Hyperkineti...	OMIM:617493
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines	OMIM:301076
Dystonia 23	Head tremor, Myoclonus, Torticollis	OMIM:614860
Developmental And Epileptic Encephalopathy 40	Spasticity, Seizure, Myoclonus, Spastic tetraparesis, Choreoathetosis	OMIM:617065
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Developmental And Epileptic Encephalopathy 108	Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n...	OMIM:620115
Atypical Rett Syndrome	Restrictive behavior, Spasticity, Involuntary movements, Neonatal seizure, Limb myoclonus, Seizur...	ORPHA:3095
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Febrile Seizures, Familial, 11	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age...	OMIM:614418
Childhood Absence Epilepsy	Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (...	ORPHA:64280
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Seizure, Generalized-onset seizure, Self-mutilation, Hemiparesis, Aggressive behavior, Hyperactiv...	OMIM:604317
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate...	ORPHA:363549
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom...	OMIM:614487
Spinocerebellar Ataxia With Epilepsy	Depression, Dysdiadochokinesis, Myoclonus, Gait ataxia, Dysmetria, Tremor, Bilateral tonic-clonic...	ORPHA:254881
Developmental And Epileptic Encephalopathy 92	Spasticity, Myoclonus, Seizure, Ataxia	OMIM:617829
Childhood-Onset Spasticity With Hyperglycinemia	Spastic dysarthria, Myoclonus, Irritability, Babinski sign, Hypertonia, Ataxia, Progressive spast...	ORPHA:401866
Familial Focal Epilepsy With Variable Foci	Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral tonic-clonic s...	ORPHA:98820
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure	ORPHA:163721
Epilepsy With Eyelid Myoclonia	Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of...	ORPHA:139431
Spinocerebellar Ataxia Type 37	Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis	ORPHA:363710
Developmental And Epileptic Encephalopathy 99	Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s...	OMIM:619606
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Generalized-onset seizure, Myoclonus, Tremor, Dysphagia, Frequent falls, G...	OMIM:159950
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Lethargy, Low...	OMIM:615751
Developmental And Epileptic Encephalopathy 103	Ataxia, Spastic tetraplegia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epilepti...	OMIM:619913
Developmental And Epileptic Encephalopathy 41	Spasticity, Myoclonic seizure, Tetraparesis, Epileptic spasm, Irritability, Status epilepticus wi...	OMIM:617105
Pontocerebellar Hypoplasia, Type 4	Spasticity, Seizure, Myoclonus, Hypertonia, Dysphagia	OMIM:225753
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, Stereo...	ORPHA:289266
Dystonia 6, Torsion	Myoclonus, Torticollis	OMIM:602629
Epilepsy, Childhood Absence, Susceptibility To, 1	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ...	OMIM:600131
Febrile Seizures, Familial, 8	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ...	OMIM:607681
Intellectual Developmental Disorder, Autosomal Dominant 5	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure, Torticollis	OMIM:612621
Pontocerebellar Hypoplasia Type 4	Hypertonia, Myoclonus, Seizure	ORPHA:166063
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Bilateral ton...	OMIM:300423
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Episodic ataxia, Abnormal pyramidal sign, Bilateral tonic-clonic seizure, Par...	ORPHA:53583
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, Tremor, Rigidity, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia...	OMIM:617836
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Congenital Disorder Of Glycosylation, Type Iaa	Appendicular spasticity, Status epilepticus, Bilateral tonic-clonic seizure, Pseudobulbar paralysis	OMIM:617082
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Resting tremor, Seizure, Tremor, Irritability, Aggressive behavio...	ORPHA:3077
Ceroid Lipofuscinosis, Neuronal, 5	Seizure, Myoclonus, Dysmetria, Clumsiness, Limb tremor, Ataxia, Dysdiadochokinesis	OMIM:256731
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, P...	OMIM:609446
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia	ORPHA:98763
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria, Bilateral tonic-clonic seizure	OMIM:249650
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Involuntary move...	ORPHA:1929
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Focal impaired awareness seizure, Seizure, Focal-onset seizure, Tremor, Bilateral tonic-clonic se...	ORPHA:330050
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Yoon-Bellen Neurodevelopmental Syndrome	Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic-atoni...	OMIM:619701
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Intention tremor, Clonic sei...	OMIM:610539
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Inappropriate behavior, Seizure, Myoclonus, Disinhibition, Babinski sign, Euphoria, A...	OMIM:221770
Mitochondrial Complex I Deficiency, Nuclear Type 19	Seizure, Myoclonus, Rigidity, Irritability, Athetosis	OMIM:618241
Autosomal Recessive Dopa-Responsive Dystonia	Postural tremor, Myoclonus, Gait ataxia, Irritability, Rigidity, Babinski sign, Parkinsonism, Abn...	ORPHA:101150
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr...	OMIM:612016
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Abnormal circulating p...	ORPHA:100924
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness,...	ORPHA:79263
Developmental And Epileptic Encephalopathy 91	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic se...	OMIM:617711
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Chorea, Myoclonus, Re...	OMIM:617600
Benign Familial Neonatal-Infantile Seizures	Neonatal seizure, Episodic ataxia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se...	ORPHA:140927
Lissencephaly 3	Seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Spastic tetraplegia	OMIM:611603
Developmental And Epileptic Encephalopathy 63	Myoclonic seizure, Seizure, Cerebral palsy, Generalized-onset seizure, Epileptic spasm, Generaliz...	OMIM:617976
Developmental And Epileptic Encephalopathy 23	Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal...	OMIM:615859
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Gerstmann-Straussler Disease	Spasticity, Depression, Limb ataxia, Myoclonus, Emotional lability, Gait ataxia, Rigidity, Tremor...	OMIM:137440
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, Bi...	ORPHA:313772
Late Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Spasticity, Myoclonic seizure, Typical absence seizure, Seizure, Myoclonus, Focal-onset s...	ORPHA:168491
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Gait ataxia, Dysmetria, T...	OMIM:617810
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Seizure, Adrenal insufficiency, Hepatic steatosis, Pancreatitis	OMIM:619386
Autosomal Dominant Spastic Paraplegia Type 6	Spastic paraplegia, Postural tremor, Babinski sign, Lower limb spasticity, Bilateral tonic-clonic...	ORPHA:100988
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypertonia, Myoclonus, Seizure	OMIM:610090
Chromosome 22Q13 Duplication Syndrome	Emotional lability, Polyphagia, Attention deficit hyperactivity disorder, Bilateral tonic-clonic ...	OMIM:615538
Narp Syndrome	Seizure, Irritability, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Ataxia	ORPHA:644
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Phosphoserine Aminotransferase Deficiency	Hypertonia, Myoclonus, Seizure	OMIM:610992
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure with generalize...	OMIM:619092
Developmental And Epileptic Encephalopathy 1	Infantile spasms, Focal-onset seizure, Tonic seizure, Abnormal pyramidal sign, Dysphagia, Hyperto...	OMIM:308350
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Bilateral tonic-clonic seizure, Spasticity, Seizure, Ataxia	OMIM:620317
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spasticity, Myoclonic seizure, Spastic tetraplegia, Seizure, Generalized non-motor (absence) seiz...	OMIM:619616
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism, Bilateral tonic-c...	OMIM:204200
Mitochondrial Complex I Deficiency, Nuclear Type 15	Spastic tetraplegia, Bilateral tonic-clonic seizure, Irritability	OMIM:618237
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Seizure, Myoclonus, Disinhibition, Babinski sign, Apraxia	OMIM:618193
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Self-injurious behavior, Convulsive status epilepticus, Chorea, Stereotypical hand wringing, Foca...	OMIM:618760
Congenital Disorder Of Glycosylation, Type In	Spasticity, Myoclonus, Seizure, Ataxia	OMIM:612015
Hemimegalencephaly	Seizure, Epileptic spasm, Myoclonus, Hemiparesis, Focal tonic seizure, Atonic seizure, Focal moto...	ORPHA:99802
Dystonia 22, Juvenile-Onset	Dysdiadochokinesis, Dysmetria, Lower limb spasticity, Bilateral tonic-clonic seizure, Torticollis...	OMIM:620453
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619000
Unilateral Focal Polymicrogyria	Seizure, Bilateral tonic-clonic seizure with focal onset, Spastic hemiparesis, Hemiparesis, Aggre...	ORPHA:268947
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ...	OMIM:601764
Gaucher Disease, Type Iii	Spastic paraparesis, Depression, Myoclonus, Ataxia, Generalized myoclonic seizure	OMIM:231000
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:620461
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Myoclonic seizure, Hyperglycemia, Bilateral tonic-clonic seizure, Bilat...	OMIM:618856
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Cirrhosis, Weight loss, Pancreatitis, Acholic stools, ...	ORPHA:65682
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati...	ORPHA:94093
Kohlschutter-Tonz Syndrome	Spasticity, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure	OMIM:226750
Early-Onset Autosomal Dominant Alzheimer Disease	Seizure, Myoclonus, Disinhibition, Parkinsonism, Oculomotor apraxia, Apraxia, Hypertonia, Ataxia,...	ORPHA:1020
Inherited Creutzfeldt-Jakob Disease	Progressive cerebellar ataxia, Depression, Seizure, Progressive extrapyramidal muscular rigidity,...	ORPHA:282166
Myoclonus, Intractable, Neonatal	Chorea, Impaired oral bolus formation, Myoclonus, Athetosis, Dysphagia, Clonic seizure	OMIM:617235
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Obesity, Cholecystitis, Sclerosing c...	ORPHA:69663
Spinocerebellar Ataxia, Autosomal Recessive 32	Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticollis, Bradykinesia, Dysphagia	OMIM:619862
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Cyanosis, Hypoglycemia	OMIM:240200
Spastic Paraplegia 82, Autosomal Recessive	Babinski sign, Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Spasti...	OMIM:618770
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral ...	OMIM:619338
Autosomal Recessive Spastic Paraplegia Type 48	Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity, Ataxia, Spastic gait	ORPHA:306511
Peho-Like Syndrome	Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:617507
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:139485
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spasticity, Pseudobulbar paralysis, Emotional lability, Hemiparesis, Irritability, Rigidity, Spas...	ORPHA:199354
Familial Infantile Myoclonic Epilepsy	Ataxia, Blepharospasm, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bilateral tonic-...	ORPHA:352582
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Bilateral tonic-cl...	OMIM:619854
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Tetraparesis, Myoclonus, Cogwheel rigidity, Gait ataxia, Rigidity, Babinski sign, Dys...	ORPHA:225154
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Paroxysmal dyskinesia,...	OMIM:606703
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased circulating renin level, Hyponatremia, Irritability, Reduced blood urea nitrogen, Decre...	OMIM:300539
Mitochondrial Complex I Deficiency, Nuclear Type 31	Dysmetria, Myoclonus, Seizure	OMIM:618251
Pitt-Hopkins-Like Syndrome 1	Spasticity, Status epilepticus, Generalized-onset seizure, Bilateral tonic-clonic seizure with fo...	OMIM:610042
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus	OMIM:608600
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Myoclonus, Seizure, Slurred speech	ORPHA:3327
Nephrogenic Diabetes Insipidus	Polydipsia, Hypernatremia, Anorexia	ORPHA:223
Lafora Disease	Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Depression, ...	ORPHA:501
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hypoglycemia	OMIM:620137
Hyperekplexia 4	Hypertonia, Infantile spasms, Myoclonus, Seizure	OMIM:618011
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Involuntary movements, Depression, Focal hyperkinetic seizure, Attention deficit hyperactivity di...	ORPHA:98784
Spinocerebellar Ataxia 50	Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia	OMIM:620158
Parkinsonism-Dystonia 3, Childhood-Onset	Depression, Chorea, Action tremor, Tremor, Reduced social reciprocity, Hyperkinetic movements, Ag...	OMIM:619738
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Pontocerebellar Hypoplasia, Type 1E	Myoclonus	OMIM:619303
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
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
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Developmental And Epileptic Encephalopathy 31B	Involuntary movements, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Appendicular spas...	OMIM:620352
Malignant Migrating Focal Seizures Of Infancy	Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Focal hemicl...	ORPHA:293181
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
Brain Small Vessel Disease 2	Hemiplegia, Spastic tetraplegia, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Seizure, Tremor, Self-mutilation, Hyperkinetic movements, Bilateral tonic-clonic seiz...	ORPHA:457240
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Spasticity, Focal impaired awareness seizure, Seizure, Chorea, Bilateral tonic-clonic seizure, St...	OMIM:613970
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism...	OMIM:606693
Pontocerebellar Hypoplasia, Type 2E	Spasticity, Myoclonic seizure, Infantile spasms, Myoclonus, Irritability, Opisthotonus, Tonic sei...	OMIM:615851
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Myoclonic seizure, Epileptic spasm, Gait ataxia, Emotional lability, Recurrent hand flapp...	OMIM:619580
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Seizure, Splenomegaly, Pancreatitis, Hepatomegaly	ORPHA:79312
Alexander Disease	Spasticity, Seizure, Dysmetria, Babinski sign, Ataxia, Palatal tremor	OMIM:203450
Familial Dyskinesia And Facial Myokymia	Chorea, Myoclonus, Resting tremor, Limb hypertonia	ORPHA:324588
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Head tremor, Limb ataxia, Dys...	ORPHA:276198
Autosomal Recessive Frontotemporal Pachygyria	Bilateral tonic-clonic seizure, Seizure	ORPHA:329329
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Ataxia	OMIM:616949
Microcephaly, Amish Type	Myoclonus, Limb hypertonia, Irritability	OMIM:607196
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Depression, Seizure, Emotional lability, Clumsiness, Parkinsonism, Motor...	ORPHA:79264
Nipah Virus Disease	Tremor, Myoclonus, Seizure, Anorexia	ORPHA:99825
Mitochondrial Complex I Deficiency, Nuclear Type 13	Spasticity, Focal motor seizure, Bilateral tonic-clonic seizure, Irritability	OMIM:618235
Developmental And Epileptic Encephalopathy 66	Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,...	OMIM:618067
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Infantile spasms, Tonic seizure, Limb hypertonia, Bilateral tonic-clonic se...	OMIM:620028
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Paroxysmal dyskines...	ORPHA:98810
Congenital Disorder Of Glycosylation, Type Iiy	Status epilepticus, Bilateral tonic-clonic seizure	OMIM:620200
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Spastic tetraplegia, Generalized myoclonic seizure, Epileptic spasm, Tremor, ...	OMIM:612164
Severe Neonatal-Onset Encephalopathy With Microcephaly	Bilateral tonic-clonic seizure, Spasticity, Involuntary movements, Seizure	ORPHA:209370
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Weakness due ...	ORPHA:97355
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis	OMIM:618858
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Tremor, Ataxia	OMIM:616494
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to...	OMIM:619881
Dystonia 28, Childhood-Onset	Spasticity, Retrocollis, Myoclonus, Tremor, Torticollis	OMIM:617284
Alzheimer Disease 3	Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Apraxia, Optic a...	OMIM:607822
Developmental And Epileptic Encephalopathy 90	Focal-onset seizure, Ankle clonus, Babinski sign, Limb hypertonia, Bilateral tonic-clonic seizure...	OMIM:301058
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Torticollis, Vocal tremor	ORPHA:420485
Thyrocerebroretinal Syndrome	Myoclonus, Slurred speech, Seizure, Ataxia	OMIM:274240
Intellectual Developmental Disorder, Autosomal Dominant 56	Spasticity, Seizure, Myoclonus, Reduced social reciprocity, Clumsiness, Attention deficit hyperac...	OMIM:617854
Glycosylphosphatidylinositol Biosynthesis Defect 17	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Overfriendliness, Aggress...	OMIM:618010
Systemic Primary Carnitine Deficiency	Clumsiness, Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Developmental And Epileptic Encephalopathy 93	Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm...	OMIM:618012
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:607876
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Myoclonus, Seizure, Ataxia	OMIM:620094
Intellectual Developmental Disorder, X-Linked 30	Seizure, Generalized non-motor (absence) seizure, Clumsiness, Aggressive behavior, Hyperactivity,...	OMIM:300558
Aminoacylase 1 Deficiency	Bilateral tonic-clonic seizure, Hyperactivity, Seizure	OMIM:609924
Chylous Ascites	Pancreatitis	ORPHA:1160
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Myoclonus, Seizure, Abnormality of extrapyramidal motor function	OMIM:604218
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Aggressive behavior, Reduced social reciprocity, Bilateral tonic-clonic seizure	OMIM:616083
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Aggressive behavior, Hypertonia, ...	OMIM:618356
Developmental And Epileptic Encephalopathy 79	Migrating focal seizure, Spasticity, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure w...	OMIM:618559
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Hepatomegaly, Pancreatitis, Hepatic steatosis	OMIM:618805
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Infantile spasms, Bilateral tonic-clonic seizure	OMIM:618470
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila...	OMIM:615637
Alexander Disease Type I	Spasticity, Seizure, Abnormal pyramidal sign, Ataxia, Dysphagia, Palatal tremor	ORPHA:363717
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Developmental And Epileptic Encephalopathy 47	Limb ataxia, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status e...	OMIM:617166
Abeta Amyloidosis, Iowa Type	Myoclonus, Dysphagia	ORPHA:324708
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc...	OMIM:600803
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Seizure, Tetraparesis, Myoclonus, Gait ataxia, Tremor, Abnor...	ORPHA:363400
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Seizure, Abnormality of coordination, Myoclonus, Tremor, Rigid...	ORPHA:442835
Atypical Juvenile Parkinsonism	Involuntary movements, Resting tremor, Seizure, Myoclonus, Gait ataxia, Rigidity, Abnormal pyrami...	ORPHA:391411
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Developmental And Epileptic Encephalopathy 68	Spasticity, Myoclonus, Clonus, Exaggerated startle response, Status epilepticus	OMIM:618201
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Generalized tonic seizure, ...	ORPHA:411986
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ataxia	OMIM:618225
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Tongue fasciculations, Seizure, Generalized non-motor (absence) seizure, Dysmetria, Babinski sign...	OMIM:618170
Oxoglutarate Dehydrogenase Deficiency	Dysmetria, Gait ataxia, Bilateral tonic-clonic seizure, Rigidity	OMIM:203740
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Bilateral tonic-clonic seizure, Irritability	ORPHA:457205
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Spastic paraplegia, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Spastic gait	OMIM:615031
Propionic Acidemia	Eczematoid dermatitis, Hypoglycemia, Failure to thrive, Seizure, Pancreatitis, Hepatomegaly	OMIM:606054
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Spasticity, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hyp...	OMIM:616281
Maple Syrup Urine Disease, Type Ia	Hypoglycemia, Pancreatitis, Seizure	OMIM:248600
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Chorea,...	ORPHA:53351
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Seizure	ORPHA:250972
Sulfite Oxidase Deficiency, Isolated	Ataxia, Sulfocysteinuria, Hemiplegia, Hypertonia, Bilateral tonic-clonic seizure, Choreoathetosis...	OMIM:272300
Spinocerebellar Ataxia 2	Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri...	OMIM:183090
D-Glyceric Aciduria	Aminoaciduria, Spasticity, Spastic tetraplegia, Seizure, Focal clonic seizure, Myoclonus, Appendi...	OMIM:220120
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Hyperphenylalaninemia, Bh4-Deficient, B	Seizure, Tremor, Rigidity, Hyperkinetic movements, Irritability, Limb hypertonia, Dysphagia, Chor...	OMIM:233910
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Chorea, Progressive spastic quad...	ORPHA:309246
Autosomal Spastic Paraplegia Type 58	Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B...	ORPHA:397946
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age	OMIM:606176
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan...	OMIM:167800
Schindler Disease, Type I	Spasticity, Myoclonus, Seizure	OMIM:609241
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Seizure, Hepatomegaly, Pancreatitis, Tubulointerstitial nephritis	OMIM:251000
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Seizure, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Bilateral tonic-clonic s...	ORPHA:529665
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Seizure, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Head ...	OMIM:618877
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Generalized myoclonic seizure, Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms...	OMIM:614498
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf...	ORPHA:552
Tropical Calcific Pancreatitis	Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,...	OMIM:608189
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia...	OMIM:616329
Type 1 Diabetes Mellitus	Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ...	OMIM:222100
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Action tremor, Dysmetria, Babinski sign, Apraxia, Bilateral ton...	ORPHA:93952
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Focal impaired awareness seizure, Seizure, Head tremor, Infantile spasms, Tonic seizure, Bilatera...	OMIM:619428
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Adenylosuccinase Deficiency	Spasticity, Seizure, Hemiplegia, Inappropriate laughter, Myoclonus, Gait ataxia, Self-mutilation,...	OMIM:103050
Riboflavin Transporter Deficiency	Seizure, Myoclonus, Tremor, Aggressive behavior, Ataxia, Dysphagia	ORPHA:97229
Cholera	Hypoglycemia, Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Lethargy, Abnormal blood ion...	ORPHA:173
Hereditary Hyperekplexia	Spasticity, Seizure, Fasciculations, Myoclonus, Rigidity, Hypertonia, Ataxia	ORPHA:3197
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Spastic tetraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 ...	OMIM:619847
Developmental And Epileptic Encephalopathy 28	Ataxia, Spasticity, Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epile...	OMIM:616211
Ataxia-Telangiectasia-Like Disorder	Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Frequent...	ORPHA:251347
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Confusion, Depression	ORPHA:83601
Infantile Cerebellar-Retinal Degeneration	Athetosis, Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia	OMIM:614559
Developmental And Epileptic Encephalopathy 8	Tonic seizure, Hypertonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Exag...	OMIM:300607
Hyperekplexia 3	Hypertonia, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response	OMIM:614618
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Valinemia	Hyperkinetic movements, Valinuria	OMIM:277100
Stiff-Person Syndrome	Depression, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls	OMIM:184850
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Combined Oxidative Phosphorylation Deficiency 51	Myoclonus, Rigidity	OMIM:619057
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Depression, Seizure, Myoclonus, Tremor,...	ORPHA:199351
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia	OMIM:615508
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Intellectual Developmental Disorder, Autosomal Dominant 74	Hypertonia, Typical absence seizure, Bilateral tonic-clonic seizure, Motor tics	OMIM:620688
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Depression, Pill-rolling tremor, Resting tremor, Hand tre...	OMIM:612953
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action...	ORPHA:101
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Tetraparesis, Infantile spasms, Myoclonus, Focal-onset seizure	OMIM:618972
Hyperekplexia 1	Seizure, Myoclonus, Nocturnal seizures, Hypertonia, Exaggerated startle response, Frequent falls	OMIM:149400
D-Glyceric Aciduria	Hyperglycinuria, Spasticity, Seizure, Chorea, Myoclonus	ORPHA:941
Spinocerebellar Ataxia 13	Spasticity, Limb ataxia, Myoclonus, Limb dysmetria, Gait ataxia, Abnormal pyramidal sign, Progres...	OMIM:605259
Developmental And Epileptic Encephalopathy 61	Focal clonic seizure, Spasticity, Bilateral tonic-clonic seizure with focal onset, Seizure	OMIM:617933
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Seizure, Myoclonus, Babinski sign, Ataxia, Truncal ataxia	OMIM:252011
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Seizure, Ketotic hypoglycemia	ORPHA:2089
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Babinski sign, Clu...	OMIM:617282
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Failure to thrive, Seizure, Aspiration pneumonia	ORPHA:431361
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Involuntary movements, Myoclonic seizure, Seizure, Bruxism, Bilateral tonic-clonic seizure	OMIM:615716
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Myoclonus, Emotional lability, Irritability, Babinski sign, Tongue thrusting, Limb...	OMIM:608643
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Sandhoff Disease, Infantile Form	Spasticity, Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated st...	ORPHA:309155
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Seizure	ORPHA:27
Fatty Acid Hydroxylase-Associated Neurodegeneration	Depression, Progressive spastic paraplegia, Progressive spastic paraparesis, Progressive spastic ...	ORPHA:329308
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Hyperkalemic Periodic Paralysis	Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Gait disturbance, ...	ORPHA:682
Dentici-Novelli Neurodevelopmental Syndrome	Myoclonic seizure, Epileptic spasm, Hypertonia, Bilateral tonic-clonic seizure, Motor stereotypy	OMIM:619877
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Focal myoclonic seizure, Seizure, Progressive spastic paraplegia, Lower limb spastici...	ORPHA:464282
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Bilateral tonic-clonic seizure, Gait ataxia, Seizure	ORPHA:488635
Parkinson Disease 1, Autosomal Dominant	Depression, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Bradykinesia, Dysphagia	OMIM:168601
Serotonin Syndrome	Seizure, Myoclonus, Tremor, Rigidity, Irritability, Clonus, Hypertonia, Restlessness, Agitation	ORPHA:43116
Mitochondrial Complex I Deficiency, Nuclear Type 18	Myoclonic seizure, Myoclonus, Hypertonia	OMIM:618240
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus	ORPHA:676
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus, Seizure	OMIM:520000
Obesity Due To Sim1 Deficiency	Memory impairment, Hyperinsulinemia, Glucose intolerance, Polyphagia, Attention deficit hyperacti...	ORPHA:369873
Alexander Disease Type Ii	Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Ataxia, Dysphagia, Palatal tremor	ORPHA:363722
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Myoclonus, Dysmetria, Abnormal pyramidal sign, Dysphagia	OMIM:619780
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Cirrhos...	ORPHA:79083
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra...	ORPHA:204
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Spasticity, Seizure, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapyramidal motor funct...	ORPHA:79279
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Eyelid myoc...	OMIM:618060
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia	ORPHA:199296
Familial Chylomicronemia Syndrome	Acute pancreatitis, Failure to thrive, Hepatosplenomegaly, Hepatic steatosis, Decreased body weig...	ORPHA:444490
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:614736
Gm1-Gangliosidosis, Type Iii	Myoclonus, Slurred speech, Seizure, Ataxia	OMIM:230650
Cach Syndrome	Optic neuritis, Hepatosplenomegaly, Pancreatitis, Seizure	ORPHA:135
Whipple Disease	Insulin resistance, Depression, Polydipsia, Anorexia, Hyponatremia, Ataxia	ORPHA:3452
Epilepsy, Progressive Myoclonic, 10	Spasticity, Spastic tetraplegia, Seizure, Myoclonus, Spastic ataxia, Ataxia, Generalized myocloni...	OMIM:616640
Spinocerebellar Ataxia Type 13	Seizure, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Dysphagia, Torticollis, Bradykinesia, T...	ORPHA:98768
Alfadhel Syndrome	Bilateral tonic-clonic seizure, Spastic paraplegia, Aggressive behavior, Seizure	OMIM:620655
Myoclonic-Astatic Epilepsy	Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset se...	ORPHA:1942
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Weight loss, Oligoa...	ORPHA:31205
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Seizure, Type II diabetes mellitus, Hypothyroidism, Iridocyclitis, Panc...	ORPHA:412057
Hyperlipoproteinemia, Type Id	Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Lissencephaly 9 With Complex Brainstem Malformation	Spasticity, Myoclonic seizure, Involuntary movements, Seizure, Infantile spasms, Bilateral tonic-...	OMIM:618325
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Myoclonus, Seizure, Rigidity	OMIM:300673
Pyruvate Dehydrogenase E1-Alpha Deficiency	Seizure, Episodic ataxia, Myoclonus, Tremor, Choreoathetosis	OMIM:312170
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Canavan Disease	Epileptic spasm, Opisthotonus, Abnormal pyramidal sign, Elevated urine N-acetylaspartic acid leve...	OMIM:271900
Myoclonic Epilepsy Of Lafora 1	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit...	OMIM:254780
Developmental And Epileptic Encephalopathy 49	Spasticity, Myoclonic seizure, Spastic tetraplegia, Facial-lingual fasciculations, Myoclonus, Ton...	OMIM:617281
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Spasticity, Seizure, Infantile spasms, Irritability, Bilateral tonic-clonic seizure, Hypertonia, ...	ORPHA:544503
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
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hypertr...	OMIM:603553
Necrotizing Enterocolitis	Hyperglycemia, Abnormal glucose homeostasis, Cyanosis, Hyponatremia, Lethargy	ORPHA:391673
Developmental And Epileptic Encephalopathy 101	Opisthotonus, Myoclonus, Seizure	OMIM:619814
Tay-Sachs Disease	Depression, Typical absence seizure, Seizure, Frequent falls, Incoordination, Fasciculations, Myo...	ORPHA:845
Intellectual Developmental Disorder, X-Linked 98	Ataxia, Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body rocking, In...	OMIM:300912
Dystonia 34, Myoclonic	Head tremor, Myoclonus, Hand tremor, Torticollis	OMIM:619724
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Seizure, Cerebral palsy, Low frustration tolerance, Focal-onset seizure...	ORPHA:163681
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Insulin-resistant diabetes mellitus	ORPHA:435651
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Addictive alcohol use, Hyponatremia	ORPHA:1930
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age	OMIM:618857
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements, Infantile spasms, Dysphagia	OMIM:618374
Neuroferritinopathy	Blepharospasm, Involuntary movements, Resting tremor, Chorea, Emotional lability, Babinski sign, ...	ORPHA:157846
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Seizure, Epileptic spasm, Myoclonus, Hypertonia, Spastic tetraparesis	ORPHA:284417
Baker-Gordon Syndrome	Self-injurious behavior, Involuntary movements, Hyperkinetic movements, Motor stereotypy, Ataxia,...	OMIM:618218
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Infantile spasms, Irritability, Hair-pulling, Motor stereotypy, Lower limb spasticity, Clonus, Hy...	ORPHA:447997
Multiple Mitochondrial Dysfunctions Syndrome 1	Hyperglycinuria, Facial paralysis, Alpha-aminoadipic aciduria, Myoclonus, Abnormality of extrapyr...	OMIM:605711
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Diabetes mellitus	OMIM:613845
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Cachexia, Weight loss, Prostatiti...	ORPHA:2552
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Seizure, Inappropriate laughter, Abnormal eating behavior, Myoclonus, Recurrent hand flapping, Tr...	ORPHA:98794
Early-Onset Lafora Body Disease	Spastic tetraparesis, Myoclonus, Seizure, Ataxia	ORPHA:324290
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Hepatic steatosis, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus	ORPHA:2348
Angelman Syndrome	Ataxia, Self-injurious behavior, Seizure, Inappropriate laughter, Infantile spasms, Myoclonus, Re...	ORPHA:72
Houge-Janssens Syndrome 3	Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ...	OMIM:618354
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis	ORPHA:289916
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Pancreatitis, Failure to thrive, Seizure	OMIM:236200
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Hypertonia, Ataxia, Intention tremor	OMIM:616505
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Lethargy, Anorexia, Hypercal...	ORPHA:199299
Autosomal Recessive Spastic Paraplegia Type 77	Neuromuscular dysphagia, Seizure, Progressive spastic paraplegia, Myoclonus, Babinski sign, Sciss...	ORPHA:466722
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se...	OMIM:615476
Systemic Capillary Leak Syndrome	Myocarditis, Weight loss, Pancreatitis, Pericarditis	ORPHA:188
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Involuntary movements, Generalized myoclonic seizure, Seizure, Incoordination, Infantile spasms, ...	ORPHA:480864
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Bilateral toni...	OMIM:602481
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pancreatitis, Diabetic ketoacidosis	ORPHA:70578
Snakebite Envenomation	Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis	ORPHA:449285
X-Linked Intellectual Disability Due To Gria3 Mutations	Spasticity, Seizure, Myoclonus, Self-mutilation, Babinski sign, Aggressive behavior, Bilateral to...	ORPHA:364028
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Seizure, Bilateral tonic-clonic seizure with generalized onset, Tongue thrusting, Bilateral tonic...	ORPHA:98795
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Seizure, Chorea, Infantile spasms, Myoclonus, Gait ataxia, Irritability, Aggressive behavior, Ata...	OMIM:618321
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Hyperbilirubin...	ORPHA:1667
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia	OMIM:613090
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Gerstmann-Straussler-Scheinker Syndrome	Gait ataxia, Limb myoclonus, Abnormality of extrapyramidal motor function	ORPHA:356
Bartter Syndrome Type 4	Hypomagnesemia, Emotional lability, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati...	ORPHA:89938
Molybdenum Cofactor Deficiency, Type C	Increased urinary taurine, Generalized-onset seizure, Limb hypertonia, Hypertonia, Bilateral toni...	OMIM:615501
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Seizure, Epileptic spasm, Myoclonus, Appendicular spasticity, Dysphagia	OMIM:617669
Combined Oxidative Phosphorylation Deficiency 27	Tetraparesis, Chorea, Myoclonus, Opisthotonus, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:616672
Pyridoxal Phosphate-Responsive Seizures	Hypertonia, Myoclonus, Status epilepticus, Seizure	ORPHA:79096
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Truncal ataxia, Chorea, Bilateral tonic-clonic seizure	ORPHA:369840
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Spasticity, Spastic tetraplegia, Generalized non-motor (absence) seizure, Epileptic spasm, Irrita...	ORPHA:79351
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Epileptic spasm, Myoclonus	OMIM:619060
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Failure to thrive, Seizure, Abnormality of thyroid physiology,...	ORPHA:1830
Alternating Hemiplegia Of Childhood	Seizure, Tetraparesis, Episodic hemiplegia, Oral-pharyngeal dysphagia, Chorea, Anorexia, Emotiona...	ORPHA:2131
Infantile Krabbe Disease	Spasticity, Seizure, Myoclonus, Irritability, Ankle clonus, Opisthotonus, Lower limb spasticity, ...	ORPHA:206436
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic paraplegia, Seizure, Myoclonus, Babinski sign, Abnormal pyramidal sign, Ataxia, Spastic g...	OMIM:620538
Neurodevelopmental Disorder With Spasticity And Poor Growth	Spasticity, Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Irritability, Opisthotonus, ...	OMIM:618076
Familial Glucocorticoid Deficiency	Hyponatremia, Ketotic hypoglycemia, Anorexia, Hypoglycemic seizures, Hyperkalemia	ORPHA:361
Subependymal Nodular Heterotopia	Focal aware seizure, Limb myoclonus, Seizure, Focal-onset seizure	ORPHA:101030
Developmental And Epileptic Encephalopathy 2	Seizure, Generalized-onset seizure, Infantile spasms, Myoclonus, Multifocal seizures, Motor stere...	OMIM:300672
Parkinsonian-Pyramidal Syndrome	Spasticity, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Bradykines...	ORPHA:171695
D-2-Hydroxyglutaric Aciduria 1	Myoclonic seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure	OMIM:600721
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Juvenile Sialidosis Type 2	Spasticity, Seizure, Myoclonus, Dysmetria, Lower limb spasticity, Ataxia, Dysphagia, Generalized ...	ORPHA:93399
Intellectual Developmental Disorder, Autosomal Dominant 42	Focal hemiclonic seizure, Dysphagia, Generalized non-motor (absence) seizure, Cerebral palsy, Inf...	OMIM:616973
Molybdenum Cofactor Deficiency, Type B	Increased urinary taurine, Seizure, Irritability, Opisthotonus, Bilateral tonic-clonic seizure, M...	OMIM:252160
Mepan Syndrome	Spasticity, Chorea, Myoclonus, Ataxia, Dysphagia	ORPHA:508093
Sialidosis Type 1	Aminoaciduria, Seizure, Myoclonus, Tremor, Ataxia, Slurred speech	ORPHA:812
Congenital Syphilis	Pneumonia, Keratitis, Hypoglycemia, Seizure, Hepatosplenomegaly, Synovitis, Prolonged neonatal ja...	ORPHA:499009
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Depression, Seizure, Tremor, Hyperkinetic movements	OMIM:300957
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level, Truncal obesity	OMIM:610475
Citrullinemia Type Ii	Hepatic fibrosis, Decreased body mass index, Seizure, Hepatic steatosis, Pancreatitis, Hepatomega...	ORPHA:247585
Hyperekplexia 2	Myoclonus, Hypertonia, Exaggerated startle response	OMIM:614619
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Focal myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Myoclonus,...	OMIM:619229
Autoimmune Hypoparathyroidism	Depression, Hypocalcemic seizures, Myoclonic spasms, Irritability	ORPHA:36913
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Depression, Seizure, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Clonus, Ataxia, Nonpr...	OMIM:301310
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Polydipsia, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:602522
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis	OMIM:145001
Combined Oxidative Phosphorylation Deficiency 54	Seizure, Generalized-onset seizure, Hyperglycemia, Obesity, Retrobulbar optic neuritis	OMIM:619737
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Familial Hypoaldosteronism	Hyponatremia, Lethargy, Hyperkalemia, Increased circulating renin level	ORPHA:427
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Myoclonus, Seizure	OMIM:616158
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Fasciculations, Tremor, Polyminimyoclonus, Dysphagia	OMIM:619574
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Acute Adrenal Insufficiency	Hypoglycemia, Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hyperkalemia, Hypercalcemia, I...	ORPHA:95409
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Spasticity, Focal myoclonic seizure, Seizure, Irritability, Aggressive behavior, Limb hypertonia,...	ORPHA:481152
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art...	ORPHA:727
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Gait ataxia, Depression, Myoclonus, Seizure	ORPHA:70595
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Seizure, Epileptic spasm, Myoclonus, Vocal cord paralysis, Dysphagia	ORPHA:500144
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Spastic paraplegia, Polydipsia, Focal myoclonic seizure, Seizure, Cerebral palsy, Bilateral tonic...	ORPHA:369929
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Spasticity, Seizure, Generalized-onset seizure, Infantile spasms, Irritability, Hy...	OMIM:612073
Dk1-Cdg	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure	ORPHA:91131
Seckel Syndrome 10	Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri...	OMIM:617253
Amish Lethal Microcephaly	Limb hypertonia, Bilateral tonic-clonic seizure, Irritability	ORPHA:99742
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Bilateral tonic-clonic seizure, Hemiparesis	OMIM:540000
Early Infantile Epileptic Encephalopathy	Self-injurious behavior, Spasticity, Seizure, Generalized non-motor (absence) seizure, Febrile se...	ORPHA:1934
Renal Hypoplasia, Bilateral	Hyponatremia, Lethargy, Hyperkalemia, Glycosuria	ORPHA:97362
Dysbetalipoproteinemia	Acute pancreatitis, Obesity, Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Diabetes mell...	ORPHA:412
Peripheral Primitive Neuroectodermal Tumor	Seizure, Weight loss, Pancreatitis, Jaundice, Neoplasm of the pancreas	ORPHA:370348
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia, Anorexia	OMIM:619381
Legionnaires Disease	Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit...	ORPHA:549
Pontocerebellar Hypoplasia, Type 7	Tongue fasciculations, Spasticity, Spastic paraplegia, Seizure, Myoclonus, Opisthotonus, Oculomot...	OMIM:614969
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Failure to thrive, Seizure, Hepatosplenomegaly, Portal hypertension, Hepatic st...	OMIM:619487
Infant Botulism	Hyponatremia, Dysphagia, Anorexia	ORPHA:178478
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia	OMIM:614299
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617468
Unilateral Polymicrogyria	Spastic tetraplegia, Involuntary movements, Seizure, Pseudobulbar paralysis, Infantile spasms, My...	ORPHA:268943
3-Methylglutaconic Aciduria Type 7	Spasticity, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnor...	ORPHA:445038
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se...	OMIM:619835
New-Onset Refractory Status Epilepticus	Focal aware motor seizure, Focal autonomic seizure, Myoclonic seizure, Focal impaired awareness s...	ORPHA:363558
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomegaly, Splenomegaly, Croh...	OMIM:618935
Alg8-Cdg	Hyponatremia, Ataxia	ORPHA:79325
Nmda Receptor Encephalitis	Involuntary movements, Depression, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Focal-o...	ORPHA:217253
Acute Intermittent Porphyria	Mental deterioration, Memory impairment, Depression, Pseudobulbar paralysis, Confusion, Hyponatre...	ORPHA:79276
Niemann-Pick Disease Type C	Speech apraxia, Abnormal pyramidal sign, Ataxia, Dysphagia, Abnormal social behavior, Depression,...	ORPHA:646
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hyperkinetic movements, Homocystinuria, Hypertonia, Seizure	OMIM:236270
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Spasticity, Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awar...	OMIM:619983
3-Hydroxy-3-Methylglutaric Aciduria	Seizure, Recurrent hypoglycemia, Myoclonus, Lipid accumulation in hepatocytes, Weight loss, Nonke...	ORPHA:20
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Ritscher-Schinzel Syndrome 4	Chorea, Aggressive behavior, Dysphagia, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Motor ...	OMIM:619435
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m...	OMIM:619777
Primary Sclerosing Cholangitis	Hepatic fibrosis, Type I diabetes mellitus, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenom...	ORPHA:171
X-Linked Cerebral Adrenoleukodystrophy	Limb myoclonus, Seizure, Dysmetria, Hemiparesis, Ankle clonus, Hoffmann sign, Apraxia, Lower limb...	ORPHA:139396
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Head-banging, Bilateral tonic-clonic seizure	OMIM:619356
Coenzyme Q10 Deficiency, Primary, 1	Seizure, Myoclonus, Tremor, Right hemiplegia, Ataxia, Dysphagia, Status epilepticus	OMIM:607426
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Spasticity, Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Babinski si...	OMIM:615802
Neuraminidase Deficiency	Dysmetria, Myoclonus, Seizure, Slurred speech	OMIM:256550
Bilateral Polymicrogyria	Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spasms, Spastic hemiparesis...	ORPHA:268940
Peho Syndrome	Myoclonus, Seizure	OMIM:260565
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Cir...	ORPHA:79086
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Seizure, Bruxism, Irritability, Hyperkinetic movements, Aggressive behavior, Lower limb s...	OMIM:617799
Oromandibular Dystonia	Blepharospasm, Depression, Bruxism, Hyperkinetic movements, Torticollis, Dysphagia	ORPHA:93958
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79273
Addison Disease	Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Salt craving, Anorexia, Hype...	ORPHA:85138
Adult-Onset Cervical Dystonia, Dyt23 Type	Head tremor, Myoclonus, Limb tremor, Torticollis	ORPHA:420492
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria, Spastic paraparesis, Seizure, Generalized non-motor (absence) seizure, Focal-onse...	ORPHA:395
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Seizure, Epileptic spasm, Speech apraxia, Myoclonus, Bilateral tonic-clonic seizure with generali...	ORPHA:314655
Glycogen Storage Disease Ia	Hypoglycemia, Gout, Pancreatitis, Fasting hypoglycemia, Hepatomegaly, Hepatocellular carcinoma	OMIM:232200
Cog8-Cdg	Myoclonus, Seizure, Ataxia	ORPHA:95428
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia	OMIM:620157
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Failure to thrive, Hypoglycemia, Gout, Hepati...	ORPHA:79259
Juvenile Nephropathic Cystinosis	Hypouricemia, Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic...	ORPHA:411634
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Motor stereotypy, Bilateral tonic-clonic seizure	OMIM:616351
Opsoclonus-Myoclonus Syndrome	Limb myoclonus, Myoclonus, Rigidity, Irritability, Ataxia	ORPHA:1183
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-motor (absence) seizure,...	OMIM:613839
Hyperglycinemia, Lactic Acidosis, And Seizures	Myoclonus, Spastic tetraplegia, Seizure	OMIM:614462
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Myoclonic spasms	ORPHA:94090
Glycogen Storage Disease Ib	Inflammation of the large intestine, Hypoglycemia, Gout, Splenomegaly, Pancreatitis, Pancreatic f...	OMIM:232220
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Seizure, Hepatic periportal necrosis, Hepatomegaly, Acute pancreatitis	ORPHA:26791
Fatal Familial Insomnia	Myoclonus, Dysphagia, Ataxia	OMIM:600072
Microcephaly-Capillary Malformation Syndrome	Spastic tetraparesis, Infantile spasms, Myoclonus, Seizure	OMIM:614261
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Depression, Polydipsia, Hyperglycemia, Hyperlipidemia, Emotional labilit...	ORPHA:293987
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Lissencephaly Due To Tuba1A Mutation	Spasticity, Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure	ORPHA:171680
Pseudohypoparathyroidism Type 1B	Depression, Hypocalcemic seizures, Myoclonic spasms, Irritability	ORPHA:94089
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Hypertonia, Myoclonus, Seizure	ORPHA:3078
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polydipsia, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypo...	OMIM:241200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Inability to walk, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia	OMIM:617913
Glucocorticoid Deficiency 2	Myoclonic seizure, Focal motor seizure, Myoclonus, Spastic tetraparesis	OMIM:607398
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep...	OMIM:219700
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Generalized-onset seizure, Postural tremor, Gait ataxia, Myoclonus, Action tremor, Dysphagia, Int...	OMIM:254900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Bilateral tonic-clonic seizure	OMIM:618120
Melas	Type I diabetes mellitus, Failure to thrive, Seizure, Myoclonus, Type II diabetes mellitus, Recur...	ORPHA:550
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Spasticity, Seizure, Generalized non-motor (absence) seizure, Infantile ...	ORPHA:457351
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Seizure, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonus, Ataxia, Choreoathet...	OMIM:616271
Behçet Disease	Seizure, Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Increased inflamma...	ORPHA:117
Mirage Syndrome	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:617053
Hsd10 Disease, Infantile Type	Poor coordination, Seizure, Hyperkinetic movements, Dysphagia, Spastic tetraparesis, Restlessness...	ORPHA:391428
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Myoclonic seizure, Cerebral palsy, Appendicular spasticity, Limb hypertonia, Bilateral tonic-clon...	OMIM:620070
Dystonia-Aphonia Syndrome	Myoclonus, Dysphagia, Seizure	ORPHA:412217
Choreoacanthocytosis	Resting tremor, Emotional lability, Hair-pulling, Parkinsonism, Bradykinesia, Dysphagia, Socially...	ORPHA:2388
Donohue Syndrome	Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyperinsulinemia, Pancr...	OMIM:246200
Japanese Encephalitis	Pill-rolling tremor, Anorexia, Myoclonus, Cogwheel rigidity, Tremor, Abnormality of extrapyramida...	ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Myoclonic seizure, Myoclonus, Seizure	OMIM:614946
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus	ORPHA:168593
Shigellosis	Hyponatremia, Abnormal blood ion concentration, Hypoglycemia, Anorexia	ORPHA:810
Familial Dysautonomia	Hyponatremia, Gait disturbance, Acrocyanosis, Ataxia	ORPHA:1764
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Hypokalemia, Impaired gl...	OMIM:219090
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Limb hypertonia, Focal impaired awareness seizure, Seizure	ORPHA:488613
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Combined Oxidative Phosphorylation Deficiency 3	Hyperammonemia, Elevated circulating creatine kinase concentration, Hyponatremia, Cognitive impai...	OMIM:610505
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure	OMIM:619278
Pyruvate Dehydrogenase E1-Alpha Deficiency	Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Ataxia	ORPHA:79243
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Focal clonic seizure, Intention tremor, Bilateral tonic-clonic seizure	OMIM:618381
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis	OMIM:145980
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Congenital Insensitivity To Pain With Severe Intellectual Disability	Self-mutilation, Bilateral tonic-clonic seizure	ORPHA:453510
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased body weight, Hyperglycemia, Increased circulating cortisol level, Abdominal obesity	OMIM:615954
Intellectual Developmental Disorder, Autosomal Dominant 53	Involuntary movements, Generalized non-motor (absence) seizure, Febrile seizure (within the age r...	OMIM:617798
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
Brain-Lung-Thyroid Syndrome	Involuntary movements, Incoordination, Chorea, Abnormal eating behavior, Myoclonus, Intention tre...	ORPHA:209905
Zygomycosis	Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa...	ORPHA:73263
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	OMIM:151660
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Depression, Seizure, Myoclonus, Emotional lability, Dysmetria, Gait ataxia, Babinski sign, Progre...	OMIM:607459
Acute Lung Injury	Pneumonia, Acute pancreatitis	ORPHA:178320
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Polydipsia, Glycosuria, Hypomagnesemia, Hypophosph...	OMIM:219800
Galloway-Mowat Syndrome 10	Myoclonus	OMIM:619609
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram...	OMIM:613135
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Spastic tetraplegia, Seizure, Myoclonus, Clonus, Status epilepticus	OMIM:619055
Pituitary Apoplexy	Hyponatremia, Confusion, Hypoglycemia	ORPHA:95613
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia	ORPHA:247353
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Spasticity, Myoclonic seizure, Cerebral palsy, Bilateral tonic-clonic seizure, Athetosis, Spastic...	OMIM:615474
Sandhoff Disease	Ataxia, Spasticity, Myoclonic seizure, Fasciculations, Bilateral tonic-clonic seizure, Exaggerate...	OMIM:268800
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Primary hyperparathyroidism	OMIM:145981
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Hepatic steatosis, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus	ORPHA:280365
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis, Seizure	OMIM:613159
Pelger-Huet Anomaly	Bilateral tonic-clonic seizure, Seizure, Lower limb hypertonia	OMIM:169400
Optic Atrophy 11	Seizure, Stereotypical body rocking, Dysmetria, Hyperkinetic movements, Attention deficit hyperac...	OMIM:617302
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Tongue fasciculations, Seizure, Cataplexy, Epileptic spasm, Generalized tonic seizure, Lower limb...	OMIM:617193
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypertonia, Bilateral tonic-clonic seizure	ORPHA:79350
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Myoclonus, Gait ataxia, Appendicular spasticity, Bilateral tonic-cl...	OMIM:620451
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia, Hypoglycemia	ORPHA:90790
Coccidioidomycosis	Pneumonia, Folliculitis, Seizure, Abnormality of the spleen, Morbilliform rash, Osteomyelitis, Ab...	ORPHA:228123
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Elevated circulating creatinine concentration, Irritability, Hypokalemia, Hyponatremia, Unconjuga...	ORPHA:90038
Granulomatosis With Polyangiitis	Seizure, Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Weight loss, Panc...	ORPHA:900
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 ye...	ORPHA:42
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Portal fibrosis, Failure to thrive, Seizure, Eczematoid der...	ORPHA:3260
Familial Mediterranean Fever	Erysipelas, Seizure, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Arthritis, Ost...	ORPHA:342
Combined Oxidative Phosphorylation Deficiency 57	Myoclonus, Seizure	OMIM:620167
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Spasticity, Alpha-aminoadipic aciduria, Seizure, Gait ataxia, Hyperkinetic movements, Babinski si...	OMIM:620089
Developmental And Epileptic Encephalopathy 111	Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu...	OMIM:620504
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Glycosuria, Pancreatic hypoplasi...	ORPHA:99885
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Seizure, Parotitis, Pancreatitis, Sinusitis	ORPHA:449427
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Inability to walk, Hypertriglyceridemia, Hyponatrem...	ORPHA:167
Caroli Syndrome	Intrahepatic cholestasis, Hypersplenism, Portal hypertension, Congenital hepatic fibrosis, Abnorm...	ORPHA:480520
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Myoclonus, Ataxia	OMIM:560000
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Abn...	ORPHA:449395
Pancreatic And Cerebellar Agenesis	Failure to thrive, Hypoglycemia, Seizure, Pancreatic hypoplasia, Hyperglycemia, Diabetes mellitus...	OMIM:609069
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Seizure, Focal-onset seizure, Splenic cyst, Decreased body weight,...	OMIM:620371
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Seizure, Recurrent otitis media, Exocrine pancreatic insufficiency, Splenomegaly,...	OMIM:618268
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Myoclonus, Seizure	OMIM:614922
Mirizzi Syndrome	Cholelithiasis, Pancreatitis, Abnormal ductus choledochus morphology, Gallbladder perforation, Ja...	ORPHA:521219
3P25.3 Microdeletion Syndrome	Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni...	ORPHA:435638
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Hyperkinetic movements, Truncal ataxia, Chorea, Seizure	ORPHA:369847
Panhypophysitis	Hyponatremia, Polydipsia	ORPHA:95513
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Ankle clonus, Babinski sign,...	OMIM:615398
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Hepatitis, C...	ORPHA:562
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Poor coordination, Myoclonic spasms	ORPHA:478029
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Hyponatremia, Hypocapnia, Neonatal hypoglycemia, Hypochloremia	ORPHA:90794
9P13 Microdeletion Syndrome	Bruxism, Attention deficit hyperactivity disorder, Myoclonus, Hand tremor	ORPHA:324313
Alg12-Cdg	Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Recurrent hypoglycemia	ORPHA:79324
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Babinski sign, Clonus, Limb hypertonia, Bilateral tonic-clonic seizure, Spastic tetraparesis	ORPHA:423479
Jaberi-Elahi Syndrome	Gait ataxia, Dysmetria, Appendicular spasticity, Tremor, Bilateral tonic-clonic seizure, Choreoat...	OMIM:617988
Neuroblastoma	Ataxia, Myoclonus, Irritability	ORPHA:635
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Myoclonus, Seizure, Ataxia	OMIM:619167
Congenital Sialidosis Type 2	Spasticity, Seizure, Myoclonus, Dysmetria, Ataxia	ORPHA:93400
Orofaciodigital Syndrome Type 3	Focal seizure with eyelid myoclonia, Spasticity, Oculomotor apraxia, Myoclonus	ORPHA:2752
Adrenal Hypoplasia, Congenital	Hyponatremia	OMIM:300200
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized aminoaciduria, Generalized non-motor (absence) seizure, Chorea, Infantile spasms, Myo...	ORPHA:404454
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia, Cyanosis, Ataxia	OMIM:618426
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79473
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
Paternal Uniparental Disomy Of Chromosome 1	Polyphagia, Myoclonus, Seizure	ORPHA:251004
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ...	OMIM:615710
Developmental And Epileptic Encephalopathy 95	Seizure, Inappropriate laughter, Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Mul...	OMIM:618143
Glass Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Frequent temper tantrums,...	OMIM:612313
Warburg Micro Syndrome 3	Myoclonic seizure, Ankle clonus, Lower limb spasticity, Bilateral tonic-clonic seizure, Spastic t...	OMIM:614222
Congenital Disorder Of Deglycosylation 1	Involuntary movements, Myoclonic seizure, Restlessness, Seizure, Oral-pharyngeal dysphagia, Chore...	OMIM:615273
Bardet-Biedl Syndrome 9	Hyperglycemia, Obesity, Truncal obesity	OMIM:615986
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Hyperkinetic movements, Self-injurious behavior, Myoclonic seizure	OMIM:620469
Glycerol Kinase Deficiency	Hypoglycemia, Seizure, Adrenal insufficiency, Chronic pancreatitis, Small for gestational age	OMIM:307030
Molybdenum Cofactor Deficiency, Type A	Increased urinary taurine, Seizure, Opisthotonus, Elevated urinary S-sulfocysteine level, Myoclon...	OMIM:252150
Ethylene Glycol Poisoning	Seizure, Myoclonus, Euphoria, Addictive alcohol use, Ataxia, Slurred speech	ORPHA:31826
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia...	ORPHA:168558
Hyperphosphatasia-Intellectual Disability Syndrome	Seizure, Myoclonus, Oculomotor apraxia, Bilateral tonic-clonic seizure, Ataxia	ORPHA:247262
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ...	OMIM:614207
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia...	ORPHA:289548
Rabin-Pappas Syndrome	Hyponatremia	OMIM:620155
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Abnormal hepatic glycogen storage, Inc...	ORPHA:2088
Ebola Hemorrhagic Fever	Maculopapular exanthema, Acute pancreatitis, Hepatitis	ORPHA:319218
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Diminishment of social interactions, Spasticity, Myoclonic seizure, Head-banging, Seizure, Genera...	OMIM:620455
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus	ORPHA:565612
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Seizure, Pancreatitis, Myocarditis, Septic arthritis, Diabetes mellitus, Acute colitis	ORPHA:544482
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral tonic-clonic seizur...	OMIM:620224
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Portal hypertension, Splenomegaly, Cirrhosis, Weight loss, Hypothyroidism, Arthrit...	ORPHA:465508
Biotinidase Deficiency	Spastic paraparesis, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Focal mot...	ORPHA:79241
Holoprosencephaly	Hyponatremia, Diabetes mellitus, Cognitive impairment, Hypoglycemia	ORPHA:2162
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Recurrent hypoglycemia	ORPHA:293978
Sheehan Syndrome	Hyponatremia, Hypoglycemia	ORPHA:91355
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Seizure, Postural tremor, Myoclonus, Babinski sign, Ataxia, Truncal ataxia, Status ep...	OMIM:301072
Lysinuric Protein Intolerance	Failure to thrive, Splenomegaly, Pancreatitis, Truncal obesity, Hepatomegaly	OMIM:222700
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Depression, Hyponatremia, Hypokalemia, Attention deficit hyperactivity d...	ORPHA:534
Autosomal Dominant Hypocalcemia	Depression, Cortical myoclonus, Emotional lability	ORPHA:428
Stevens-Johnson Syndrome	Conjunctivitis, Weight loss, Pancreatitis	ORPHA:36426
Marburg Hemorrhagic Fever	Uveitis, Hypoglycemia, Seizure, Skin rash, Orchitis, Jaundice, Pancreatitis, Arthritis, Atypical ...	ORPHA:99826
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia, Seizure	OMIM:175700
Cerebrotendinous Xanthomatosis	Spasticity, Depression, Spastic paraparesis, Resting tremor, Seizure, Abnormality of extrapyramid...	ORPHA:909
Toxic Epidermal Necrolysis	Conjunctivitis, Weight loss, Pancreatitis	ORPHA:537
Glycogen Storage Disease Ic	Inflammation of the large intestine, Hypoglycemia, Gout, Chronic pancreatitis, Hepatoblastoma, He...	OMIM:232240
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Mitochondrial Dna-Associated Leigh Syndrome	Spasticity, Seizure, Chorea, Infantile spasms, Gait ataxia, Bilateral tonic-clonic seizure, Ataxi...	ORPHA:255210
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Primary hyperparathyroidism	OMIM:600740
Bardet-Biedl Syndrome 20	Obesity, Pancreatitis	OMIM:619471
Scorpion Envenomation	Glycosuria, Seizure, Hemifacial spasm, Hyperglycemia, Myoclonus, Hyperhidrosis, Myocarditis, Acut...	ORPHA:466677
Kinsship Syndrome	Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-clonic seizure, Spas...	OMIM:619297
Mitochondrial Trifunctional Protein Deficiency 2	Bilateral tonic-clonic seizure, Seizure	OMIM:620300
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypercholesterolemia, Cognitive impairment, Hypertriglyceridemia, Psychomotor deter...	ORPHA:275761
Leukodystrophy, Hypomyelinating, 10	Hyperkinetic movements, Babinski sign, Spasticity, Seizure	OMIM:616420
W Syndrome	Spasticity, Bilateral tonic-clonic seizure	ORPHA:2804
Kufor-Rakeb Syndrome	Blepharospasm, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Hyperto...	ORPHA:306674
Cocaine Intoxication	Involuntary movements, Seizure, Focal-onset seizure, Tremor, Bilateral tonic-clonic seizure, Atyp...	ORPHA:90068
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Seizure, Hyperkinetic movements, Photosensitive tonic-clonic seizure, Ataxia, Truncal ataxia, Dys...	OMIM:300243
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity	OMIM:615812
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:600092
Adenohypophysitis	Hyponatremia	ORPHA:95512
Bone Marrow Failure Syndrome 5	Bilateral tonic-clonic seizure	OMIM:618165
Beta-Ketothiolase Deficiency	Hypoglycemia, Seizure, Hyperglycemia, Weight loss, Hepatomegaly	ORPHA:134
Immunodeficiency 23	Cortical myoclonus, Myoclonus, Ataxia	OMIM:615816
Farber Disease	Spasticity, Seizure, Infantile spasms, Myoclonus, Paraparesis	ORPHA:333
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Dysdiadochokinesis, Seizure, Myoclonus, Intention tremor, Tremor, ...	OMIM:208900
Neuroblastoma, Susceptibility To, 1	Myoclonus, Ataxia	OMIM:256700
Pauci-Immune Glomerulonephritis	Arteritis, Scleritis, Pancreatitis, Glomerulonephritis, Tubulointerstitial nephritis, Crescentic ...	ORPHA:93126
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatomegaly, D...	OMIM:608594
Neutral Lipid Storage Disease With Myopathy	Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus	OMIM:610717
Weaver Syndrome	Spasticity, Seizure, Generalized non-motor (absence) seizure, Polyphagia, Bilateral tonic-clonic ...	OMIM:277590
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Myoclonus, Seizure	OMIM:246450
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Chromosome Xp11.3 Deletion Syndrome	Bilateral tonic-clonic seizure	OMIM:300578
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Weight loss, Pancreatitis, Primary hyperparathyroidism	ORPHA:143
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi...	ORPHA:466943
Pediatric-Onset Graves Disease	Polydipsia, Emotional lability, Tremor, Irritability, Hyperkinetic movements, Polyphagia, Hyperac...	ORPHA:525731
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Focal myoclonic seizure, Tetraparesis, Myoclonus, Paralysis, Hypert...	OMIM:203700
Lysinuric Protein Intolerance	Failure to thrive, Hepatic amyloidosis, Decreased response to growth hormone stimulation test, He...	ORPHA:470
Episodic Ataxia Type 7	Hyperkinetic movements, Episodic ataxia	ORPHA:209970
De Sanctis-Cacchione Syndrome	Spasticity, Babinski sign, Scissor gait, Bilateral tonic-clonic seizure, Ataxia, Hypertonia, Chor...	OMIM:278800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Myoclonus, Tetraplegia, Seizure, Irritability	OMIM:618278
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Bilateral tonic-clonic seizure	OMIM:201475
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hyperbilirubinemia, Short attention span, Hypocalce...	OMIM:619991
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatome...	OMIM:269700
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Seizure, Myoclonus, Torticollis, Ataxia, Spastic tetraplegia	OMIM:609136
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Spastic tetraplegia, Myoclonic seizure, Generalized-onset seizure, Epileptic spasm, Bilateral ton...	OMIM:620024
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Seizure, Myoclonus, Hyperkinetic movements, Aggressive behavior, Hypertonia, Choreoathetosis	ORPHA:17
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Sialuria	Hyperkinetic movements, Attention deficit hyperactivity disorder, Seizure	ORPHA:3166
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hyperglycemia, Hypothyroidism, Seizure	ORPHA:90065
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years)	ORPHA:3044
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Recurrent p...	OMIM:606721
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Smal...	OMIM:269880
Igg4-Related Ophthalmic Disease	Keratitis, Orchitis, Prostatitis, Pancreatitis, Sinusitis, Cholangitis, Thyroiditis, Retroperiton...	ORPHA:449563
1Q44 Microdeletion Syndrome	Bilateral tonic-clonic seizure	ORPHA:238769
Hermansky-Pudlak Syndrome 10	Focal myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617050
Pseudohypoparathyroidism Type 1C	Depression, Irritability, Polyphagia, Myoclonic spasms, Hypocalcemic seizures	ORPHA:79444
Joubert Syndrome 1	Hemifacial spasm, Self-mutilation, Aggressive behavior, Oculomotor apraxia, Hyperactivity, Ataxia	OMIM:213300
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Self-injurious behavior, Typical absence seizure, Aggressive behavior, Attention deficit hyperact...	ORPHA:466950
Listeriosis	Seizure, Myoclonus, Tremor, Hemiparesis, Irritability, Ataxia	ORPHA:533
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral t...	OMIM:614231
Dend Syndrome	Hyperglycemia, Seizure	ORPHA:79134
Pgm3-Cdg	Cortical myoclonus, Myoclonus, Seizure, Ataxia	ORPHA:443811
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, Hypothyroidism, Pancreatiti...	ORPHA:733
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Myoclonic seizure, Fixated interests, Generalized non-motor (absence) se...	OMIM:620330
Poliomyelitis	Fasciculations, Irritability, Hyperkinetic movements, Paralysis, Paraparesis, Anorexia, Dysphagia...	ORPHA:2912
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Aggressive behavior, Dysphagia, Bilateral tonic-clonic seizure with focal onset, Seizure	ORPHA:488627
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Polydipsia, Cognitive impairment, Increased serum bile acid concentration	ORPHA:731
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Self-injurious behavior, Myoclonic seizure, Frequent temper tantrums, Tonic seizure, Hyperactivit...	OMIM:619512
Pseudohypoparathyroidism Type 1A	Involuntary movements, Depression, Irritability, Polyphagia, Myoclonic spasms, Hypocalcemic seizu...	ORPHA:79443
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Leigh Syndrome	Generalized aminoaciduria, Spasticity, Involuntary movements, Seizure, Chorea, Infantile spasms, ...	ORPHA:506
Tick-Borne Encephalitis	Tongue fasciculations, Depression, Generalized-onset seizure, Incoordination, Speech apraxia, Tre...	ORPHA:297
Familial Hypocalciuric Hypercalcemia	Hypocalcemic seizures, Pancreatitis	ORPHA:405
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Spasticity, Motor stereotypy, Seizure	OMIM:301040
Neutral Lipid Storage Myopathy	Chronic pancreatitis, Hepatic steatosis, Cholecystitis, Hepatomegaly, Diabetes mellitus	ORPHA:98908
Neuromuscular Oculoauditory Syndrome	Infantile spasms, Bilateral tonic-clonic seizure	OMIM:618733
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Myoclonic spasms, Bilateral tonic-clonic seizure	ORPHA:73224
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Insulin-resistant diabetes mellitus, Decreased response to growth...	OMIM:203800
Developmental And Epileptic Encephalopathy 89	Spasticity, Myoclonic seizure, Tetraparesis, Epileptic spasm, Hyperkinetic movements, Bilateral t...	OMIM:619124
Crimean-Congo Hemorrhagic Fever	Conjunctivitis, Parotitis, Morbilliform rash, Adrenal insufficiency, Cholecystitis, Splenomegaly,...	ORPHA:99827
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Bilateral tonic-clonic seizure	ORPHA:436159
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Pancreatitis, Primary hyperparathyroidism	ORPHA:99880
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Paraplegia, Paraparesis, Bilateral tonic-clonic seizure, Hemiparesis	ORPHA:79124
Lujo Hemorrhagic Fever	Bilateral tonic-clonic seizure, Dysphagia, Resting tremor, Seizure	ORPHA:319213
Lathosterolosis	Myoclonus, Seizure	ORPHA:46059
Visceral Myopathy 1	Pancreatitis	OMIM:155310
Mosaic Variegated Aneuploidy Syndrome 1	Bilateral tonic-clonic seizure, Tetraplegia, Generalized myoclonic seizure, Seizure	OMIM:257300
Pseudoleprechaunism Syndrome, Patterson Type	Bilateral tonic-clonic seizure, Atonic seizure	ORPHA:2976
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:681
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia	OMIM:618252
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Failure to thrive, Hypoglycemia, Seizure, Recurrent hypoglycemia, Hyperglyce...	OMIM:124000
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hand tremor, Seizure, Gait ataxia, Dysmetria, Motor stereotypy, Attention deficit hyperactivity d...	OMIM:614756
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Generalized-onset seizure, Truncal ataxia, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:620066
X Small Rings	Bilateral tonic-clonic seizure, Seizure	ORPHA:96201
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:608612
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Seizure, Speech apraxia, Chorea, Tremor, Hyperkinetic movements, Ataxia, Truncal ataxia, Athetosis	OMIM:615356
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Focal motor seizure, Myoclonus, Generalized myoclonic seizure	ORPHA:3063
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hypertonia, Spastic tetraparesis, Mult...	OMIM:301044
Yellow Fever	Pancreatic hyperplasia, Seizure, Skin rash, Jaundice, Acute pancreatitis, Status epilepticus	ORPHA:99829
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ataxia, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ...	ORPHA:268261
Cole Disease	Hyperglycemia	OMIM:615522
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
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension	ORPHA:440713
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General...	ORPHA:369837
Hallermann-Streiff Syndrome	Choreoathetosis, Bilateral tonic-clonic seizure, Hyperactivity	OMIM:234100
Combined Oxidative Phosphorylation Deficiency 15	Seizure, Incoordination, Tremor, Abnormal pyramidal sign, Ataxia, Bilateral tonic-clonic seizure ...	OMIM:614947
Meningioma	Seizure, Hemifacial spasm, Abnormal central motor function, Emotional lability, Hemiparesis, Atax...	ORPHA:2495
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Failure to thrive, Fasting hypo...	OMIM:227810
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Spasticity, Seizure, Fasciculations, Myoclonus, Hypertonia	ORPHA:284339
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Babinski sign, Bilateral tonic-clonic seizure, Ataxia	OMIM:252010
Gaucher Disease	Depression, Hemiplegia/hemiparesis, Tremor, Abnormality of extrapyramidal motor function, Oculomo...	ORPHA:355
Oliver Syndrome	Bilateral tonic-clonic seizure	ORPHA:2920
Heart Defects, Congenital, And Other Congenital Anomalies	Glycosuria, Failure to thrive, Seizure, Pancreatic hypoplasia, Hyperglycemia, Absent gallbladder,...	OMIM:600001
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Hyperthyroidism, Hyperhidrosis,...	ORPHA:79102
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Chorea, Self-mutilation, Hyperkinetic movements, Motor stereotypy, Repetitive comp...	ORPHA:522077
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Involuntary movements, Seizure, Bilateral tonic-clonic seizure on awakening, Epileptic spasm, Myo...	ORPHA:438213
D-Bifunctional Protein Deficiency	Bilateral tonic-clonic seizure, Seizure	OMIM:261515
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Myoclonic seizure, Violent behavior, Seizure, Gait ataxia, Bilateral tonic-clonic seizure	OMIM:280000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level	OMIM:201750
Ogden Syndrome	Generalized-onset seizure, Irritability, Dysphagia, Torticollis, Hypertonia, Bilateral tonic-clon...	OMIM:300855
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype...	ORPHA:769
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Gait ataxia, Reduced social reciprocity, Bilateral tonic-clonic seizure	ORPHA:457359
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure...	ORPHA:459070
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera...	ORPHA:508
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatomegaly, Impaired gluc...	OMIM:248370
Alström Syndrome	Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly, Type II diabetes me...	ORPHA:64
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc...	ORPHA:353281
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Spasticity, Seizure, Hyperkinetic movements, Abnormal pyramidal sign, Hy...	ORPHA:468631
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Tremor, Bilateral toni...	OMIM:612474
Acrofacial Dysostosis, Cincinnati Type	Seizure, Abnormality of coordination, Infantile spasms, Myoclonus, Lower limb spasticity, Vocal c...	OMIM:616462
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Myoclonus, Seizure	OMIM:253280
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Seizure, Hypoglycemia, Generalized-onset seizure, Hyperglycemia, Microvesicula...	OMIM:220111
Holoprosencephaly 14	Bilateral tonic-clonic seizure	OMIM:619895
Doors Syndrome	Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	ORPHA:79500
Atypical Werner Syndrome	Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Glycosuria, Hyp...	ORPHA:79474
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aspiration pneumonia, Decreased response to growth hormone stimulation test, Hyperglycemia, Obesi...	ORPHA:444077
Orofaciodigital Syndrome Type 2	Bilateral tonic-clonic seizure	ORPHA:2751
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc...	ORPHA:353277
Bardet-Biedl Syndrome	Insulin resistance, Hepatic fibrosis, Inflammation of the large intestine, Seizure, Obesity, Impa...	ORPHA:110
Sotos Syndrome	Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Tremor, Aggressi...	ORPHA:821
Kabuki Syndrome 1	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Seizure	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 Gad2

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 Gad2.

No publications found that use IMPC mice or data for Gad2.

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MGI Allele	Allele Type	Produced
Gad2^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Gad2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Gad2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, 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

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Gene: Gad2 MGI:95634

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Electrocardiogram (ECG)

X-ray

X-ray

Adult LacZ

Human diseases caused by Gad2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data