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Gene: Gria2 MGI:95809

Gene Summary

Name:

glutamate receptor, ionotropic, AMPA2 (alpha 2)

Synonyms:

Glur-2, GluR2, Glur2, GluR-B, GluA2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Gria2^em1(IMPC)H	HOM	Early adult	0.00
decreased grip strength	Gria2^em1(IMPC)H	HET	Early adult	3.22×10^-06
increased circulating alanine transaminase level	Gria2^em1(IMPC)H	HET	Early adult	6.89×10^-09
prolonged QRS complex duration	Gria2^em1(IMPC)H	HET	Early adult	1.50×10^-07

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Gria2 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 Gria2 (1 diseases)
Human diseases predicted to be associated with Gria2 (832 diseases)

The table below shows human diseases associated to Gria2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities		Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Chorea, Clo...	OMIM:618917

The table below shows human diseases predicted to be associated to Gria2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups	EEG abnormality	OMIM:130300
Photoparoxysmal Response 1	EEG with photoparoxysmal response	OMIM:132100
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon	EEG abnormality	OMIM:130200
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Parkinson...	OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc...	OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Increased neuronal autofluoresc...	OMIM:610003
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Lower limb spasticity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Inabil...	OMIM:619639
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Focal-ons...	OMIM:204300
Epilepsy, Nocturnal Frontal Lobe, 2	Depression, Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior	OMIM:603204
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, Status epilepticus, A...	OMIM:617171
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid...	OMIM:612736
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:615006
Developmental And Epileptic Encephalopathy 104	Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se...	OMIM:619970
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo...	ORPHA:726
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure	ORPHA:22
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s...	OMIM:617113
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign,...	OMIM:614322
Epilepsy, Progressive Myoclonic, 12	Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Difficulty walking, Att...	OMIM:619191
Landau-Kleffner Syndrome	Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, Bilate...	ORPHA:98818
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Cerebral atrophy, Seizure, Hypertonia, Intrauterine growth retardation	OMIM:614023
Dravet Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Agg...	ORPHA:86909
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Atrophy/Dege...	OMIM:617862
Stxbp1-Related Encephalopathy	Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil...	ORPHA:599373
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn...	OMIM:608636
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive...	OMIM:300088
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Speech apraxia, Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure wit...	OMIM:245570
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse...	OMIM:611726
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inabili...	OMIM:618090
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure...	OMIM:616981
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,...	OMIM:616230
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inabili...	OMIM:616346
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se...	ORPHA:382
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Sp...	OMIM:615157
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Myoclonic Epilepsy, Familial Infantile	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G...	OMIM:605021
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior	OMIM:617709
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor	OMIM:617863
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:613158
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ...	ORPHA:101039
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre...	OMIM:300423
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chorea, Babinsk...	OMIM:618093
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Developmental And Epileptic Encephalopathy 34	Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Inability to walk, Foc...	OMIM:616645
Developmental And Epileptic Encephalopathy 24	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Developmental And Epileptic Encephalopathy 59	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-...	OMIM:617904
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-...	ORPHA:36387
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a...	OMIM:620145
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Chorea, Clo...	OMIM:618917
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Continuous Spikes And Waves During Sleep	Speech apraxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Fo...	ORPHA:725
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse...	ORPHA:208441
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Bilateral tonic-clonic seizure, Episodic hemiplegia, Episodic quadriplegia	OMIM:104290
Developmental And Epileptic Encephalopathy 98	Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons...	OMIM:619605
Spastic Paraparesis-Deafness Syndrome	Short stature, Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic...	ORPHA:2815
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M...	ORPHA:2382
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ...	OMIM:606693
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Dysplastic corpus callosum, Unsteady g...	OMIM:620317
Hartnup Disorder	Hyperactivity, Short stature, Seizure, Hypertonia, Attention deficit hyperactivity disorder, Epis...	OMIM:234500
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Aggressive behavior, Typical abs...	OMIM:616409
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Babinski sign, Poor fine motor coordination, Difficulty walking, Sp...	ORPHA:320370
Epilepsy, Progressive Myoclonic, 6	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:614018
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene...	OMIM:618141
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz...	ORPHA:100988
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh...	ORPHA:275864
Isolated Focal Cortical Dysplasia	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa...	ORPHA:65683
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S...	OMIM:617350
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tremor, Inability t...	ORPHA:330050
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Paraparesis, Oro...	OMIM:617854
Hypothyroidism, Congenital, Nongoitrous, 7	Growth delay, Lethargy, Short stature	OMIM:618573
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo...	OMIM:618924
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se...	OMIM:617389
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu...	OMIM:301020
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye...	OMIM:618357
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity	OMIM:613722
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Glo...	OMIM:609056
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei...	OMIM:616139
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure	OMIM:617080
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ...	OMIM:606685
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non...	OMIM:607682
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements	OMIM:618425
Lissencephaly 10	Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se...	OMIM:618873
Yoon-Bellen Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I...	OMIM:619701
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal...	OMIM:607483
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Axonal degeneration, Babinski sign, Dysm...	OMIM:302800
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cerebral atrop...	OMIM:618497
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv...	ORPHA:485350
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Hemi...	ORPHA:101071
Developmental And Epileptic Encephalopathy 91	Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Foc...	OMIM:617711
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Developmental And Epileptic Encephalopathy 42	Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par...	ORPHA:53583
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Congenital Disorder Of Glycosylation, Type Iaa	Appendicular spasticity, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epileptic...	OMIM:617082
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, G...	OMIM:271980
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, Short statu...	ORPHA:208447
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo...	OMIM:617810
Foxg1 Syndrome	Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset s...	ORPHA:561854
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Short stature, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Generalize...	OMIM:617836
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking	OMIM:613608
Polymicrogyria, Bilateral Temporooccipital	Focal impaired awareness seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal o...	OMIM:612691
Lissencephaly 3	Ataxia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Seizure, Agenesis of corpus callosum...	OMIM:611603
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor...	OMIM:617493
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo...	ORPHA:254343
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Rasmussen Subacute Encephalitis	Subcortical cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure with generalized onse...	ORPHA:1929
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Lethargy, Failure to thrive, Agenesis of corpus callosum	OMIM:274270
Episodic Ataxia, Type 5	Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Short stature, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus	OMIM:619065
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, D...	OMIM:614487
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy,...	ORPHA:263516
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive	ORPHA:79283
Rolandic Epilepsy	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo...	ORPHA:1945
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Bilateral tonic-clonic seizure, Short stature, Spastic paraplegia, Dysmetria, Gait ataxia, Cerebr...	OMIM:615031
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive...	OMIM:604317
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Tetraplegia/tetraparesis, Moderately short stature, Babinski sign, Progressive spastic paraparesi...	ORPHA:506353
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Dystonia 31	Abnormal posturing, Difficulty walking, Depression	OMIM:619565
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener...	OMIM:619157
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi...	OMIM:248900
Kohlschutter-Tonz Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,...	OMIM:226750
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Seizure, Neurodegen...	OMIM:300100
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Pontocerebellar Hypoplasia, Type 14	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Myocl...	OMIM:619301
Autosomal Dominant Spastic Paraplegia Type 73	Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Progressive spastic para...	ORPHA:444099
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se...	OMIM:617105
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi...	OMIM:617976
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert...	OMIM:613672
Pontocerebellar Hypoplasia, Type 15	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co...	OMIM:619302
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor	OMIM:601068
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Generalized no...	ORPHA:98811
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Spastic ataxia, Somatic sensory dysfunction, Diffuse cerebral atrophy, Bilateral tonic-clonic sei...	ORPHA:199354
Lissencephaly, X-Linked, 1	Ataxia, Postnatal growth retardation, Seizure, Spasticity, Agenesis of corpus callosum	OMIM:300067
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Hand tremor...	OMIM:608105
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:617643
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Irritability, Neonatal d...	OMIM:618237
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Increased extrane...	OMIM:204200
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Severe Canavan Disease	Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Seiz...	ORPHA:314911
Unilateral Focal Polymicrogyria	Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Aggressive behavior, Spa...	ORPHA:268947
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:254800
Developmental And Epileptic Encephalopathy 40	Intrauterine growth retardation, Small for gestational age, Lethargy	OMIM:617065
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:266100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s...	OMIM:619606
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Tetraparesis	ORPHA:140989
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait a...	ORPHA:488635
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetria, Spasti...	ORPHA:313772
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive	ORPHA:622
Hsd10 Disease	Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Seizure, Frontotemporal ...	ORPHA:391417
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr...	OMIM:618012
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Short stature, Ataxia, Absent pubertal growth spurt, Bilate...	ORPHA:464282
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se...	OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Irritability, H...	OMIM:617290
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Paraparesis, Steppage gait, Distal sensory impairment	OMIM:302802
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tet...	OMIM:615924
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Hyperactivity, Atax...	ORPHA:168491
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t...	ORPHA:93952
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
X-Linked Adrenoleukodystrophy	Hyperactivity, Somatic sensory dysfunction, Incoordination, Aggressive behavior, Paralysis, Parap...	ORPHA:43
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive...	OMIM:619827
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence...	ORPHA:79137
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Intellectual Developmental Disorder, Autosomal Dominant 5	Torticollis, Bilateral tonic-clonic seizure, Seizure, Brain atrophy, Myoclonic absence seizure	OMIM:612621
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Diffuse cerebral atrophy, Short stature, Bilateral tonic-clonic seizure, Focal-o...	ORPHA:289266
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata...	ORPHA:140927
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Nocturnal seizures,...	OMIM:619725
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Depression, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodeg...	OMIM:615643
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Polymicrogyria, Bilateral Perisylvian, X-Linked	Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Familial Focal Epilepsy With Variable Foci	Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Pa...	ORPHA:98820
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior	OMIM:309530
Late-Infantile/Juvenile Krabbe Disease	Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati...	ORPHA:206443
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls	OMIM:203740
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Brady...	ORPHA:248111
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Global bra...	OMIM:618470
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Foc...	OMIM:617166
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Impaired distal proprioception	ORPHA:231445
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, G...	OMIM:618170
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Sarcosinemia	Emotional lability, Ataxia, Tetraparesis, Bilateral tonic-clonic seizure	ORPHA:3129
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Spastic Paraparesis And Deafness	Tremor, Short stature, Spastic paraparesis	OMIM:312910
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Methylmalonic Acidemia With Homocystinuria	Lethargy, Failure to thrive	ORPHA:26
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Severe Neonatal-Onset Encephalopathy With Microcephaly	Bilateral tonic-clonic seizure, Involuntary movements, Cerebral atrophy, Growth delay, Seizure, S...	ORPHA:209370
Developmental And Epileptic Encephalopathy 103	Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat...	OMIM:619913
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:300376
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalize...	OMIM:619028
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Weight loss	ORPHA:30925
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Chorea, Focal-onset seizure, Self-injurious behavior, Convulsive status epilep...	OMIM:618760
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:309930
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Lethargy, Agenesis of corpus callosum, Neonatal death	OMIM:610498
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Atrophy of the spinal co...	ORPHA:329308
Aminoacylase 1 Deficiency	Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cer...	OMIM:609924
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr...	OMIM:181350
Cln3 Disease	Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Agg...	ORPHA:228346
Congenital Disorder Of Glycosylation, Type Iiy	Bilateral tonic-clonic seizure, Status epilepticus, Atrophy/Degeneration affecting the brainstem,...	OMIM:620200
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni...	ORPHA:352582
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Spastic Paraplegia 82, Autosomal Recessive	Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Babinski sign, Cerebr...	OMIM:618770
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ...	ORPHA:309246
Brain Small Vessel Disease 2	Bilateral tonic-clonic seizure, Focal-onset seizure, Spastic tetraplegia, Growth delay, Hemiplegia	OMIM:614483
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Cereb...	OMIM:614559
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Parkinsonism, Inability to walk, Atrophy of the spinal cord, Paraparesis, Seizure, Latera...	ORPHA:2822
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity...	OMIM:619911
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Clonic seizure, Gait ataxia, Choreoathetosis, Myoclonic seizure, Opisthotonus, Abnormal repetitiv...	OMIM:619580
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Choreoathetosis, Seizure, Tetraparesis	ORPHA:27
Centralopathic Epilepsy	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures	OMIM:117100
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo...	OMIM:620028
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with genera...	ORPHA:2590
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Gener...	OMIM:619616
Muscle Filaminopathy	Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right bundle branch b...	ORPHA:171445
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs...	OMIM:617600
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio...	OMIM:115195
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ...	OMIM:620292
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph...	OMIM:614877
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Cerebral atrophy, Bradyk...	ORPHA:329284
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Elevate...	ORPHA:206559
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat...	ORPHA:529665
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines	OMIM:301076
Febrile Seizures, Familial, 11	Hippocampal atrophy, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton...	OMIM:614418
Short Chain Acyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Failure to thrive, Lethargy	ORPHA:26792
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Speech apraxia, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:163721
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Cln5 Disease	Generalized-onset seizure, Tremor, Dysmetria, Hyperactivity, Abnormal central motor function, Ata...	ORPHA:228360
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:300695
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Spastic Paraplegia 48, Autosomal Recessive	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip...	OMIM:613647
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Gaba-Transaminase Deficiency	Lethargy, Agenesis of corpus callosum	OMIM:613163
Developmental And Epileptic Encephalopathy 82	Short stature, Inability to walk, Spastic tetraplegia, Cerebral atrophy, Seizure, Spastic parapar...	OMIM:618721
Developmental And Epileptic Encephalopathy 79	Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My...	OMIM:618559
Cataracts, Spastic Paraparesis, And Speech Delay	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com...	OMIM:619338
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, ...	OMIM:300558
Developmental And Epileptic Encephalopathy 61	Bilateral tonic-clonic seizure with focal onset, Cerebral atrophy, Seizure, Focal clonic seizure,...	OMIM:617933
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Abnormal pyrami...	OMIM:616680
Glycine Encephalopathy 1	Lethargy, Agenesis of corpus callosum	OMIM:605899
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s...	OMIM:619428
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Hyperactivity, Broad-based gait, Short stature, Parkinsonism, Anorexia, Ag...	ORPHA:3077
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept...	OMIM:613970
Lafora Disease	Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali...	ORPHA:501
Polymicrogyria With Optic Nerve Hypoplasia	Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha...	ORPHA:250972
Developmental And Epileptic Encephalopathy 90	Bilateral tonic-clonic seizure, Focal-onset seizure, Babinski sign, Cerebral atrophy, Ankle clonu...	OMIM:301058
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Cerebr...	ORPHA:79264
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Autosomal Recessive Spastic Paraplegia Type 25	Paraparesis, Spastic paraplegia	ORPHA:101005
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Bilateral tonic-clonic seizure, Involuntary movements, Inability to walk, Myoclonic seizure, Grow...	OMIM:615716
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Growth delay, Seizure, Oculo...	OMIM:612716
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur...	ORPHA:363549
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Bilateral tonic-clonic seizure, Tremor, Depression, Seizure, Hyperkinetic movement...	ORPHA:457240
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Leukodystrophy, Hypomyelinating, 2	Ataxia, Rigidity, Head titubation, Babinski sign, Cerebral atrophy, Choreoathetosis, Seizure, Foc...	OMIM:608804
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraple...	OMIM:238970
Peho-Like Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:617507
Developmental And Epileptic Encephalopathy 23	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure...	OMIM:615859
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ...	OMIM:619854
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cerebral atrop...	OMIM:300894
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Sulfite Oxidase Deficiency, Isolated	Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Choreoathetosis, Hypertonia, Agitation,...	OMIM:272300
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Short stature, Babinski sign, Spastic paraplegia, Dysm...	OMIM:275900
Central Diabetes Insipidus	Lethargy, Failure to thrive, Weight loss, Depression	ORPHA:178029
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset...	OMIM:618067
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Ataxia, Generalized myoclonic seizure, Proportionate short stature, Spastic...	ORPHA:3208
Gaucher Disease, Type Iii	Ataxia, Short stature, Depression, Myoclonus, Spastic paraparesis, Generalized myoclonic seizure	OMIM:231000
Mitochondrial Complex I Deficiency, Nuclear Type 13	Bilateral tonic-clonic seizure, Focal motor seizure, Cerebral atrophy, Irritability, Spasticity	OMIM:618235
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica...	OMIM:113610
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Hyperlysinuria With Hyperammonemia	Growth delay, Lethargy	OMIM:238750
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Arachnoid Cyst	Inability to walk, Paraparesis, Slurred speech, Distal sensory impairment, Hemiparesis, Seizure, ...	ORPHA:2356
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma...	ORPHA:263297
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset...	OMIM:610042
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ...	OMIM:602481
N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive	OMIM:237310
Intellectual Developmental Disorder With Seizures And Language Delay	Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure	OMIM:619000
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc...	OMIM:255160
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Lethargy, Failure to thrive	OMIM:613561
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Bilateral tonic-clonic seizure, Cerebral atrophy, Irritability	ORPHA:457205
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Failure to thrive	ORPHA:28
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Depression, Prog...	ORPHA:254881
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Epileptic spasm, Clonus, Spastic tetraparesis, Inability to walk, Cerebral at...	ORPHA:544469
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa...	ORPHA:101077
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Increased cerebral lipofuscin, S...	OMIM:610539
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Central Neurocytoma	Lethargy, Abnormal lateral ventricle morphology, Depression	ORPHA:73256
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ...	OMIM:615538
Huntington Disease-Like 1	Chorea, Dysmetria, Gait ataxia, Bradykinesia, Depression, Gait disturbance, Abnormal posturing	ORPHA:157941
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Involuntary movements, Depression, At...	ORPHA:98784
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Spa...	OMIM:616281
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h...	ORPHA:64280
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Poliomyelitis	Anorexia, Paralysis, Inability to walk, Paraparesis, Irritability, Hyperkinetic movements, Agitat...	ORPHA:2912
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with...	ORPHA:163681
Systemic Primary Carnitine Deficiency	Bilateral tonic-clonic seizure with focal onset, Clumsiness	ORPHA:158
Seizures, Benign Familial Infantile, 1	Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic...	OMIM:601764
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Infantile spasms, Focal-onset seizure, Paraparesis, Oromotor apraxia, Spas...	ORPHA:98889
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Failure to thrive, Agenesis of corpus callosum	OMIM:250620
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	OMIM:615637
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Ataxia, Parkinsonism, Aggressive...	ORPHA:909
Argininemia	Cerebellar atrophy, Hyperactivity, Anorexia, Postnatal growth retardation, Seizure, Progressive s...	OMIM:207800
Diabetes Mellitus, Permanent Neonatal, 2	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure	OMIM:618856
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypertonia...	OMIM:619877
Alexander Disease Type Ii	Ataxia, Rigidity, Babinski sign, Spasticity, Dysphagia, Spastic paraparesis, Palatal tremor, Cerv...	ORPHA:363722
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Partial agenesis of ...	ORPHA:79243
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Lethargy, Agenesis of corpus callosum	OMIM:312170
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H...	ORPHA:447997
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Agg...	OMIM:300912
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Myoclonic-Astatic Epilepsy	Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si...	ORPHA:1942
Lissencephaly 9 With Complex Brainstem Malformation	Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Involuntary movements, Myoclonic...	OMIM:618325
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Failure to thrive, Short stature	ORPHA:2089
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Atrophy of th...	ORPHA:395
Dihydropyrimidinase Deficiency	Growth delay, Lethargy	OMIM:222748
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Tongue thrusting, Spastic tetraplegia, Opisthotonus, Growth delay...	OMIM:220120
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Mitochondrial Complex I Deficiency, Nuclear Type 5	Growth delay, Lethargy, Failure to thrive	OMIM:618226
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Weight loss	OMIM:143880
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Idiopathic Intracranial Hypertension	Lethargy, Obesity, Depression	ORPHA:238624
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Cerebral atrophy, Opisthotonus, Statu...	OMIM:616672
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Clonus, Incoordina...	ORPHA:480864
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus	OMIM:607876
Thyroid Dyshormonogenesis 1	Growth delay, Lethargy	OMIM:274400
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Failure to thrive	OMIM:618228
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Seizure, Irritabi...	ORPHA:481152
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Increased body weight	ORPHA:276608
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Irri...	ORPHA:544503
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigable weakness, Lethargy, Fatigable weakness of neck muscles, Cachexia	ORPHA:42
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Pontocerebellar Hypoplasia, Type 6	Lethargy, Failure to thrive	OMIM:611523
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Ritscher-Schinzel Syndrome 4	Ataxia, Short stature, Impulsivity, Aggressive behavior, Bilateral tonic-clonic seizure, Focal-on...	OMIM:619435
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Cerebellar atrophy, Spastic tetraparesis, Progressive spastic paraparesis, Growth...	ORPHA:496756
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Epileptic spasm, Diffuse cerebral atrophy, Ataxia, Bil...	OMIM:617193
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:79351
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Ce...	OMIM:610217
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im...	OMIM:300607
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy, Failure to thrive in infancy	OMIM:619064
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy, Failure to thrive	OMIM:236270
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria, Poor coordination, D...	OMIM:620242
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Failure to thrive, Short stature	OMIM:611590
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Impaired vibratory...	ORPHA:2388
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Farber Disease	Short stature, Infantile spasms, Paraparesis, Seizure, Myoclonus, Brain atrophy, Spasticity	ORPHA:333
Bilateral Polymicrogyria	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ...	ORPHA:268940
Glutaric Acidemia Type 3	Lethargy, Failure to thrive	ORPHA:35706
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasci...	OMIM:617281
Pelizaeus-Merzbacher Disease In Female Carriers	Lower limb spasticity, Generalized-onset seizure, Inability to walk, Babinski sign, Growth delay,...	ORPHA:280229
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Babinski ...	ORPHA:364028
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon...	ORPHA:309155
Lissencephaly Due To Tuba1A Mutation	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co...	ORPHA:171680
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Small for gestational age, Large for gestational age	ORPHA:324575
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Cyclic Vomiting Syndrome	Growth delay, Lethargy	OMIM:500007
Riboflavin Deficiency	Lethargy	OMIM:615026
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy	OMIM:246900
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s...	ORPHA:98795
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Short stature, Ataxia, Bilateral tonic-clonic seizure,...	OMIM:617799
Alternating Hemiplegia Of Childhood	Ataxia, Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior,...	ORPHA:2131
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Short stature	OMIM:618120
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Febrile seizure (...	OMIM:616973
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Short stature	ORPHA:49827
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious beh...	OMIM:616393
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen...	ORPHA:457351
D-2-Hydroxyglutaric Aciduria 1	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure, Late...	OMIM:600721
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Opisthotonus, Brain atr...	OMIM:271900
Houge-Janssens Syndrome 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:618354
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Corpus callosum atrophy, Abnormal pyramidal sign, Seizure, Spastic parap...	OMIM:260600
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Ataxia, Narcolepsy, Depression, Dementia, Memory impairment	OMIM:604121
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Hyperinsulinism Due To Ucp2 Deficiency	Lethargy, Large for gestational age	ORPHA:276556
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Appendicular spasticity, Cerebral palsy, Short stature, Bilateral tonic-clonic seizure, Spastic t...	OMIM:620070
Holocarboxylase Synthetase Deficiency	Growth delay, Lethargy, Weight loss	ORPHA:79242
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short stature, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor (absence) sei...	OMIM:615802
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Failure to thrive	ORPHA:2394
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal impaired awareness seizur...	OMIM:619983
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure, Inability to walk, Growth delay, Seizure, Focal impaired awarenes...	ORPHA:488613
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Lethargy, Failure to thrive	ORPHA:79312
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tetraplegia, Spasticity, Growth delay...	ORPHA:496641
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617468
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Athetosis, Seizure, Focal imp...	ORPHA:369929
Warburg Micro Syndrome 3	Lower limb spasticity, Bilateral tonic-clonic seizure, Postnatal growth retardation, Inability to...	OMIM:614222
Sporadic Infantile Bilateral Striatal Necrosis	Chorea, Gait ataxia, Bradykinesia, Titubation, Gait disturbance, Abnormal posturing	ORPHA:225147
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ...	OMIM:252160
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Hyperactivity, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Infa...	ORPHA:1934
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Hemiparesis, Bilateral tonic-clonic seizure	OMIM:540000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Lethargy, Large for gestational age	ORPHA:276575
Acute Transverse Myelitis	Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Dissociated sensory loss,...	ORPHA:139417
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Lethargy	ORPHA:289916
Hemochromatosis, Type 2A	Lethargy	OMIM:602390
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w...	OMIM:617988
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Large for gestational age	ORPHA:276580
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hemiparesis, Paraparesis, Bilateral tonic-clonic seizure, Paraplegia	ORPHA:79124
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block, Elevated circulating creatine kinase concentration	ORPHA:254361
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Intrauterine growth retardation, Failure to thrive, Lethargy	ORPHA:2169
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypertonia, Neonatal death, Generalize...	OMIM:615501
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest...	ORPHA:439
Dk1-Cdg	Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure	ORPHA:91131
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Citrullinemia Type I	Lethargy, Failure to thrive	ORPHA:247525
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Bilateral tonic-clonic seizure, Chorea, Difficulty walking, Truncal ataxia	ORPHA:369840
Hjv Or Hamp-Related Hemochromatosis	Lethargy	ORPHA:79230
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:616479
Mitochondrial Membrane Protein-Associated Neurodegeneration	Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gai...	ORPHA:289560
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Lethargy, Failure to thrive	OMIM:614857
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Postnatal growth retardation, Hypertonia, Bilateral tonic-clonic seizure	ORPHA:79350
Combined Oxidative Phosphorylation Deficiency 52	Lethargy	OMIM:619386
New-Onset Refractory Status Epilepticus	Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal...	ORPHA:363558
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Sjogren-Larsson Syndrome	Seizure, Spasticity, Short stature, Spastic paraparesis	OMIM:270200
Adult Krabbe Disease	Somatic sensory dysfunction, Broad-based gait, Ataxia, Progressive spastic paraparesis, Hoffmann ...	ORPHA:206448
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Dysphagia	OMIM:620358
Spinal Arteriovenous Metameric Syndrome	Paraparesis	ORPHA:53721
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive	OMIM:237300
De Sanctis-Cacchione Syndrome	Severe short stature, Ataxia, Bilateral tonic-clonic seizure, Axonal degeneration, Scissor gait, ...	OMIM:278800
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ...	OMIM:619777
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Inability to wal...	OMIM:618143
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Propionic Acidemia	Lethargy, Failure to thrive, Short stature	OMIM:606054
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Seizure, Positive ...	OMIM:105210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Generalized non-motor ...	OMIM:615398
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive	ORPHA:927
Pyruvate Dehydrogenase Deficiency	Growth delay, Intrauterine growth retardation, Lethargy	ORPHA:765
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Lethargy, Failure to thrive	OMIM:605711
Classic Galactosemia	Lethargy, Depression, Delayed puberty	ORPHA:79239
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Abnormal posturing, Tip-toe gait, Gait disturbance	ORPHA:216866
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Carnitine Deficiency, Systemic Primary	Lethargy, Failure to thrive	OMIM:212140
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclo...	ORPHA:478029
Coasy Protein-Associated Neurodegeneration	Difficulty walking, Parkinsonism, Compulsive behaviors, Spastic paraparesis	ORPHA:397725
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy	OMIM:233910
Developmental And Epileptic Encephalopathy 18	Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-...	OMIM:615476
Sandhoff Disease	Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Impaired temperature sensat...	OMIM:268800
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Impaired vibratory sensation, Babinski sign, Impaired proprioception, Sensory ataxia, Difficulty ...	OMIM:500013
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Short stature, Clonus, Bilateral tonic-clonic seizure, Spastic tetraparesis, Babinski sign, Intra...	ORPHA:423479
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short stature, Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence)...	OMIM:614207
Idiopathic Congenital Hypothyroidism	Lethargy	ORPHA:95717
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Congenital Insensitivity To Pain With Severe Intellectual Disability	Impaired tactile sensation, Pain insensitivity, Bilateral tonic-clonic seizure, Self-mutilation	ORPHA:453510
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,...	OMIM:619835
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Aggressive behavior	OMIM:616083
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Elev...	ORPHA:93672
Oculodentodigital Dysplasia	Ataxia, Paraparesis, Seizure, Tetraparesis, Spasticity	OMIM:164200
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C...	ORPHA:1880
Resistance To Thyrotropin-Releasing Hormone Syndrome	Growth delay, Lethargy, Overweight, Depression	ORPHA:99832
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Elevated circulating creatine kinase concentration, Left bundle branch block, Ventric...	OMIM:610131
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Failure to thrive	OMIM:615838
Igg4-Related Pachymeningitis	Seizure, Somatic sensory dysfunction, Paraparesis, Dysphagia	ORPHA:449427
Amish Lethal Microcephaly	Agenesis of corpus callosum, Irritability, Bilateral tonic-clonic seizure, Limb hypertonia	ORPHA:99742
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis...	OMIM:615474
Dystonia 1, Torsion, Autosomal Dominant	Inability to walk, Abnormal posturing, Depression	OMIM:128100
Isolated Atp Synthase Deficiency	Lethargy, Short stature	ORPHA:254913
Pelger-Huet Anomaly	Mild short stature, Lower limb hypertonia, Seizure, Bilateral tonic-clonic seizure	OMIM:169400
Autosomal Recessive Spastic Paraplegia Type 20	Impaired vibratory sensation, Speech apraxia, Short stature, Babinski sign, Slurred speech, Emoti...	ORPHA:101000
Renal Hypoplasia, Bilateral	Short stature, Small for gestational age, Growth delay, Lethargy, Failure to thrive	ORPHA:97362
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism	OMIM:616351
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Failure to thrive	OMIM:210200
Intellectual Developmental Disorder, Autosomal Dominant 53	Bilateral tonic-clonic seizure, Involuntary movements, Unsteady gait, Generalized non-motor (abse...	OMIM:617798
Paget Disease Of Bone 2, Early-Onset	Paraparesis, Tetraparesis	OMIM:602080
Coenzyme Q10 Deficiency, Primary, 3	Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus	OMIM:614652
Isovaleric Acidemia	Lethargy	OMIM:243500
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral tonic-clonic seizure, Head-banging	OMIM:619356
3P25.3 Microdeletion Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici...	ORPHA:435638
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy	OMIM:600649
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Restlessness, Hyperactivity, Incoordination, Ataxia, Short stature, Aggressive behavior, Agitatio...	ORPHA:369891
Japanese Encephalitis	Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Anorexia, Paralys...	ORPHA:79139
Methylmalonic Acidemia With Homocystinuria Type Cblf	Growth delay, Intrauterine growth retardation, Failure to thrive, Lethargy	ORPHA:79284
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Lethargy, Failure to thrive, Short stature	OMIM:201100
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Hypertonia...	OMIM:618426
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti...	ORPHA:466677
Combined Oxidative Phosphorylation Deficiency 11	Neonatal death, Lethargy, Stillbirth	OMIM:614922
Insulinoma	Lethargy, Increased body weight	ORPHA:97279
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Glass Syndrome	Restlessness, Hyperactivity, Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Agg...	OMIM:612313
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Failure to thrive, Small for gestational age	OMIM:609015
Melas	Abnormal central motor function, Short stature, Ataxia, Bilateral tonic-clonic seizure, Focal-ons...	ORPHA:550
Ogden Syndrome	Postnatal growth retardation, Lethargy	ORPHA:276432
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Unsteady gait, Dysmetria, Hand tremor, Seizure, Spastic paraparesis, Self-mutilation	ORPHA:3041
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Lethargy, Failure to thrive	OMIM:251000
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Lethargy, Failure to thrive, Rhizomelia	OMIM:607143
Biotinidase Deficiency	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Spastic p...	ORPHA:79241
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Lethargy, Increased body weight, Large for gestational age	ORPHA:263455
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure with fo...	OMIM:620024
Evans Syndrome	Lethargy	ORPHA:1959
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Intention tremor, Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:618381
Infantile Liver Failure Syndrome 2	Lethargy	OMIM:616483
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block	ORPHA:589821
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Inability to w...	OMIM:620224
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Bilateral tonic-clonic seizure	OMIM:619278
Familial Hypoaldosteronism	Growth delay, Lethargy, Failure to thrive	ORPHA:427
Typhoid	Lethargy	ORPHA:99745
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Proportionate short stature, Spastic paraparesis, Severe postnatal growth retar...	ORPHA:391408
Rift Valley Fever	Anorexia, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity	ORPHA:319251
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Small for gestational age, Lethargy, Failure to thrive, Short stature	OMIM:277380
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Dysplastic corpus callosum,...	ORPHA:488627
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy	OMIM:614299
Pseudo-Torch Syndrome 2	Lethargy, Lateral ventricle dilatation	OMIM:617397
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Failure to thrive, Lethargy, Proportionate short stature	ORPHA:71212
X-Linked Charcot-Marie-Tooth Disease Type 2	Clasp-knife sign, Babinski sign, Hand tremor, Distal sensory impairment, Steppage gait, Gait dist...	ORPHA:101076
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy	ORPHA:156
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Elevated cir...	ORPHA:268
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Bilateral tonic-clonic seizure, Growth delay, Seizure, Gait disturbance, Myoclonus, Oculo...	ORPHA:247262
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v...	ORPHA:70591
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Ataxia, Short stature, Bilateral tonic-clonic seizure, Aggressiv...	OMIM:614756
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Abnormal central motor function, Ataxia, Cerebral palsy, Hypertonia, Spastic parap...	ORPHA:760
Hypermanganesemia With Dystonia 1	Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm...	OMIM:613280
Citrullinemia Type Ii	Lethargy, Delayed menarche, Decreased body mass index, Mania	ORPHA:247585
Waardenburg Syndrome, Type 4A	Ataxia, Spastic paraparesis	OMIM:277580
Familial Thyroid Dyshormonogenesis	Lethargy	ORPHA:95716
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy	OMIM:604377
Narcolepsy 3	Narcolepsy	OMIM:609039
Symptomatic Form Of Hfe-Related Hemochromatosis	Lethargy, Apathy, Weight loss	ORPHA:465508
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy	OMIM:201450
1Q44 Microdeletion Syndrome	Growth delay, Agenesis of corpus callosum, Short stature, Bilateral tonic-clonic seizure	ORPHA:238769
Mosaic Variegated Aneuploidy Syndrome 1	Short stature, Bilateral tonic-clonic seizure, Postnatal growth retardation, Tetraplegia, Seizure...	OMIM:257300
Carnitine Palmitoyltransferase I Deficiency	Lethargy	OMIM:255120
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Failure to thrive	OMIM:201470
Necrotizing Enterocolitis	Lethargy, Small for gestational age	ORPHA:391673
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Overweight, Lethargy, Small for gestational age, Obesity	ORPHA:26793
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Maple Syrup Urine Disease	Lethargy	OMIM:248600
Combined Oxidative Phosphorylation Defect Type 7	Ataxia, Oral-pharyngeal dysphagia, Inability to walk, Abnormal pyramidal sign, Impaired tandem ga...	ORPHA:254930
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Bilateral tonic-clonic seizure, Postnatal growth retardation, Cerebral atrophy, Growth delay, Sei...	OMIM:301040
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Gait ataxia, Seizure, Hypertoni...	ORPHA:255210
Bone Marrow Failure Syndrome 5	Growth delay, Short stature, Bilateral tonic-clonic seizure	OMIM:618165
Methylmalonic Aciduria, Cblb Type	Lethargy, Failure to thrive	OMIM:251110
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation	OMIM:619576
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Ataxia, Narcolepsy, Depression, Mental deterioration, Memory impairment	ORPHA:314404
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,...	OMIM:620066
Neurofibromatosis, Familial Spinal	Paraparesis	OMIM:162210
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Ataxia, Short stature, Inability to walk, Growth delay, Seizure, Hypertonia, Convulsive status ep...	OMIM:608885
Transcobalamin Ii Deficiency	Lethargy, Failure to thrive	OMIM:275350
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Colpocephaly, Intrauterine growth retardation, Failure to thrive, Agen...	OMIM:614866
Mitochondrial Trifunctional Protein Deficiency 2	Neonatal death, Seizure, Bilateral tonic-clonic seizure	OMIM:620300
Narcolepsy 1	Narcolepsy	OMIM:161400
Isolated Thyroid-Stimulating Hormone Deficiency	Growth delay, Lethargy, Failure to thrive, Depression	ORPHA:90674
Kinsship Syndrome	Bilateral tonic-clonic seizure, Short stature, Spastic tetraparesis, Focal-onset seizure, General...	OMIM:619297
Weaver Syndrome	Bilateral tonic-clonic seizure, Slurred speech, Generalized non-motor (absence) seizure, Poor fin...	OMIM:277590
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Failure to thrive	OMIM:210210
Sim1-Related Prader-Willi-Like Syndrome	Lethargy, Abdominal obesity, Failure to thrive, Obesity	ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome	Short stature, Increased body weight, Abdominal obesity, Lethargy, Failure to thrive	ORPHA:398069
Meningococcal Meningitis	Lethargy	ORPHA:33475
Dengue Fever	Lethargy	ORPHA:99828
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy	OMIM:201475
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Scrub Typhus	Lethargy	ORPHA:83317
Isolated Complex I Deficiency	Intrauterine growth retardation, Failure to thrive, Lethargy	ORPHA:2609
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive beh...	OMIM:620330
Mitochondrial Trifunctional Protein Deficiency	Lethargy, Failure to thrive in infancy	ORPHA:746
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Short stature, Tremor, U...	OMIM:614947
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology	ORPHA:139578
Posterior Urethral Valve	Postnatal growth retardation, Lethargy	ORPHA:93110
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure	OMIM:600092
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Supraventricular ...	ORPHA:97214
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lethargy, Agenesis of corpus callosum	OMIM:608836
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Fructose-1,6-Bisphosphatase Deficiency	Lethargy	OMIM:229700
W Syndrome	Spasticity, Bilateral tonic-clonic seizure	ORPHA:2804
Methylmalonic Aciduria, Cbla Type	Lethargy, Failure to thrive	OMIM:251100
Citrullinemia, Classic	Lethargy, Failure to thrive	OMIM:215700
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum, Unsteady gait, Bilateral tonic-clonic seizure, Infantile spasms	OMIM:618733
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	OMIM:212138
Staphylococcal Necrotizing Pneumonia	Lethargy	ORPHA:36238
3-Hydroxy-3-Methylglutaric Aciduria	Lethargy, Apathy, Weight loss	ORPHA:20
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s...	OMIM:301091
Late-Onset Isolated Acth Deficiency	Lethargy, Failure to thrive, Weight loss	ORPHA:199299
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Depression, Bradykinesia, Lethargy, Failure to thrive	ORPHA:254892
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Abnormal spinal cord morphology	ORPHA:99947
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology	ORPHA:494
Chromosome Xp11.3 Deletion Syndrome	Short stature, Bilateral tonic-clonic seizure	OMIM:300578
Glycerol Kinase Deficiency	Growth delay, Lethargy, Short stature, Small for gestational age	OMIM:307030
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Intrauterine growth retardation, Failure to thrive, Lethargy	OMIM:617156
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Bilateral tonic-clonic seizure, Aggressive behavior, Poor coordination, Generalized non-motor (ab...	ORPHA:466943
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Ataxia, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Typ...	ORPHA:268261
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Bilateral tonic-clonic seizure, Tremor, Seizure, Intrauterine growth retardation	OMIM:610505
Narcolepsy 7	Narcolepsy	OMIM:614250
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Ataxia, Spastic tetraplegia, Cerebral atrophy, Distal sensory impairment, Growth del...	OMIM:609136
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Partial agenesis of the corpus call...	OMIM:619512
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Short stature, Tremor, Hemiplegia/hemiparesis, Abnormal pyramid...	ORPHA:51
Webb-Dattani Syndrome	Spasticity, Short stature, Bilateral tonic-clonic seizure	OMIM:615926
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Lethargy, Failure to thrive	OMIM:620233
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive	OMIM:311250
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Tachycardia, Elevated circulating creatine kinase concentration, Epistaxis, ...	ORPHA:99827
Cocaine Intoxication	Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse...	ORPHA:90068
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyo...	ORPHA:500
Foix-Alajouanine Syndrome	Somatic sensory dysfunction, Dysesthesia, Progressive spastic paraparesis, Unsteady gait, Paresth...	ORPHA:79093
Hermansky-Pudlak Syndrome 10	Cerebral atrophy, Bilateral tonic-clonic seizure, Focal myoclonic seizure	OMIM:617050
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	ORPHA:159
Cirrhosis, Familial	Lethargy	OMIM:215600
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Holocarboxylase Synthetase Deficiency	Lethargy	OMIM:253270
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Growth delay, Tongue f...	OMIM:252010
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Growth delay, Intrauterine growth retardation, Failure to thrive, Lethargy	ORPHA:79282
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy, Failure to thrive	OMIM:277400
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Lethargy	OMIM:618321
Gaucher Disease	Bilateral tonic-clonic seizure, Ataxia, Short stature, Tremor, Hemiplegia/hemiparesis, Oculomotor...	ORPHA:355
Argininosuccinic Aciduria	Lethargy, Failure to thrive	OMIM:207900
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Bilateral tonic-clonic seizure, Apraxia, Generalized myoclonic seizure, Intrauterine grow...	ORPHA:99885
Monosomy 22Q13.3	Hyperactivity, Impaired pain sensation, Hair-pulling, Seizure, Bruxism, Agenesis of corpus callos...	ORPHA:48652
Hydranencephaly	Postnatal growth retardation, Intrauterine growth retardation, Lethargy	ORPHA:2177
Marbach-Rustad Progeroid Syndrome	Right bundle branch block, Pulmonary insufficiency	OMIM:619322
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy	OMIM:608643
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy	OMIM:620306
Alobar Holoprosencephaly	Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive, Agenesis of corpus ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive, Agenesis of corpus ...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive, Agenesis of corpus ...	ORPHA:93924
Semilobar Holoprosencephaly	Short stature, Depression, Growth delay, Apathy, Lethargy, Failure to thrive, Agenesis of corpus ...	ORPHA:220386
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz...	ORPHA:466950
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Foca...	OMIM:301044
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Overweight, Growth delay, Lethargy, Agenesis of corpus callosum	ORPHA:226307
Encephalitis Lethargica	Lethargy	ORPHA:83600
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Babinski sign, Distal sensory impairment, Poor fine motor coordination, Sp...	ORPHA:320375
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Growth delay, Bilateral tonic-clonic seizure	ORPHA:436159
Hallermann-Streiff Syndrome	Choreoathetosis, Hyperactivity, Bilateral tonic-clonic seizure, Proportionate short stature	OMIM:234100
Hereditary Fructose Intolerance	Growth delay, Lethargy	ORPHA:469
Ebola Hemorrhagic Fever	Lethargy	ORPHA:319218
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertonia, Gait distur...	ORPHA:309854
Biotinidase Deficiency	Lethargy	OMIM:253260
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non...	ORPHA:513456
Pearson Marrow-Pancreas Syndrome	Lethargy, Failure to thrive, Small for gestational age	OMIM:557000
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Adrenomyeloneuropathy	Atrophy/Degeneration involving the corticospinal tracts, Dysesthesia, Atrophy of the spinal cord,...	ORPHA:139399
Pseudoleprechaunism Syndrome, Patterson Type	Intrauterine growth retardation, Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:2976
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Focal-onset seizure, Growth delay, Sei...	ORPHA:459070
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gene...	ORPHA:369837
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Lujo Hemorrhagic Fever	Seizure, Bilateral tonic-clonic seizure, Resting tremor, Dysphagia	ORPHA:319213
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Failure to thrive	ORPHA:415
Cholera	Lethargy	ORPHA:173
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy	ORPHA:90673
Ogden Syndrome	Torticollis, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Postnatal ...	OMIM:300855
Nestor-Guillermo Progeria Syndrome	Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S...	OMIM:614008
Trichinellosis	Lethargy, Apathy	ORPHA:863
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Bilateral tonic-clonic seizure, Cerebral atrophy, Myoclonic seizure, Gait ataxi...	OMIM:280000
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure	ORPHA:3044
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:614231
Medulloblastoma	Lethargy	ORPHA:616
X Small Rings	Growth delay, Seizure, Bilateral tonic-clonic seizure	ORPHA:96201
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Amoebiasis Due To Free-Living Amoebae	Abnormal hypothalamus morphology, Lethargy	ORPHA:68
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Seizure, Corpus callosum atrophy, Bilateral tonic-clonic seizure	OMIM:261515
Leopard Syndrome 1	Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s...	OMIM:151100
Diamond-Blackfan Anemia	Growth delay, Lethargy, Short stature, Small for gestational age	ORPHA:124
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Pulmonic stenosis	OMIM:617506
Oliver Syndrome	Intrauterine growth retardation, Bilateral tonic-clonic seizure	ORPHA:2920
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Difficulty walking, Gait ataxia	ORPHA:457359
Niemann-Pick Disease Type C	Ataxia, Progressive neurologic deterioration, Narcolepsy, Depression, Progressive gait ataxia, De...	ORPHA:646
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Growth delay, Spastic paraparesis, Short stature, Delayed puberty	OMIM:619234
Oculodentodigital Dysplasia	Ataxia, Seizure, Gait disturbance, Spastic paraparesis, Spasticity	ORPHA:2710
Hurler Syndrome	Cerebral palsy, Short stature, Abnormal pyramidal sign, Depression, Growth delay, Spastic parapar...	ORPHA:93473
Vici Syndrome	Gray matter heterotopia, Abnormal posturing	OMIM:242840
Glycine Encephalopathy	Lethargy	ORPHA:407
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Lethargy	OMIM:218700
Epidermal Nevus Syndrome	Atrophy of the spinal cord, Babinski sign, Hypertonia, Progressive spastic paraparesis	ORPHA:35125
Kufor-Rakeb Syndrome	Bradykinesia, Lethargy, Apathy	ORPHA:306674
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Cardiomyopathy	ORPHA:373
Fructose Intolerance, Hereditary	Lethargy, Failure to thrive	OMIM:229600
Benign Schwannoma	Allodynia	ORPHA:252164
Lysinuric Protein Intolerance	Lethargy, Failure to thrive	ORPHA:470
Scheie Syndrome	Cerebral palsy, Spastic paraparesis	ORPHA:93474
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Split Cord Malformation	Paraparesis	ORPHA:573278
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Allodynia	OMIM:603041
Multiple Endocrine Neoplasia Type 1	Lethargy, Weight loss, Depression	ORPHA:652
Unilateral Polymicrogyria	Abnormal posturing, Perisylvian polymicrogyria	ORPHA:268943
Holoprosencephaly 14	Cerebellar atrophy, Partial agenesis of the corpus callosum, Bilateral tonic-clonic seizure	OMIM:619895
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Epileptic spasm, Short stature, Involuntary movements, Exaggerated startle resp...	ORPHA:438213
Eales Disease	Spastic paraparesis	ORPHA:40923
Hartsfield Syndrome	Growth delay, Agenesis of corpus callosum, Bilateral tonic-clonic seizure	OMIM:615465
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology	ORPHA:88628
Cutis Laxa, Autosomal Recessive, Type Iid	Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:617403
Pineoblastoma	Lethargy	ORPHA:251909
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Self-injurious b...	OMIM:612474
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Myelitis	ORPHA:83597
Marburg Hemorrhagic Fever	Lethargy	ORPHA:99826
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, Abnormal spinal cord morphology	ORPHA:139396
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block	OMIM:617402
Exercise-Induced Malignant Hyperthermia	Lethargy	ORPHA:466650
Say-Barber-Miller Syndrome	Short stature, Babinski sign, Ankle clonus, Lower limb hypertonia, Spastic paraparesis	ORPHA:3132
Orofaciodigital Syndrome Type 2	Short stature, Bilateral tonic-clonic seizure	ORPHA:2751
Sotos Syndrome	Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Poor coordination, Generalized non-m...	ORPHA:821
African Trypanosomiasis	Akinesia, Narcolepsy, Choreoathetosis, Irritability, Gait disturbance, Difficulty walking, Delirium	ORPHA:3385
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Narcolepsy, Emotional lability, Depression	ORPHA:293987
Doors Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure	ORPHA:79500
Kabuki Syndrome 1	Short stature, Bilateral tonic-clonic seizure with focal onset, Postnatal growth retardation, Gro...	OMIM:147920
Superficial Siderosis	Atrophy of the spinal cord, Abnormal spinal cord morphology	ORPHA:247245
Paroxysmal Nocturnal Hemoglobinuria	Lethargy	ORPHA:447
Microphthalmia, Syndromic 2	Seizure, Short stature, Spastic paraparesis	OMIM:300166
Mosaic Trisomy 20	Abnormal spinal cord morphology	ORPHA:1724
Limb Body Wall Complex	Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida	ORPHA:2369
Primary Sjögren Syndrome	Abnormal spinal cord morphology	ORPHA:289390
Tetrasomy 9P	Abnormal spinal cord morphology	ORPHA:3310

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 Gria2

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 Gria2.

No publications found that use IMPC mice or data for Gria2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Gria2^em1(IMPC)H	Exon Deletion	Mice
Gria2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Gria2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	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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