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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
decreased grip strength	Gria2^em1(IMPC)H	HET	Early adult	3.22×10^-06
preweaning lethality, complete penetrance	Gria2^em1(IMPC)H	HOM	Early adult	0.00
prolonged QRS complex duration	Gria2^em1(IMPC)H	HET	Early adult	1.50×10^-07
increased circulating alanine transaminase level	Gria2^em1(IMPC)H	HET	Early adult	4.91×10^-09

Download data as: TSV XLS

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Viewing: all phenotypes

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 (848 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		Cerebral atrophy, Focal-onset seizure, Inability to walk, Chorea, Spasticity, Cerebellar atrophy,...	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)	Abnormality of extrapyramidal motor function, Depression, Seizure, Bilateral tonic-clonic seizure...	OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Neuronal loss i...	OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebral atrophy, Irritability, Cerebellar atrophy, Bilateral tonic-clonic seizure, Increased neu...	OMIM:610003
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure, Short stature, Attentio...	OMIM:619639
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Cerebral atrophy, Focal-onset seizure, Abnormality of extrapyramidal motor function, Depression, ...	OMIM:204300
Epilepsy, Nocturnal Frontal Lobe, 2	Depression, Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior	OMIM:603204
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ...	OMIM:612736
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Irritability, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, ...	OMIM:615006
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Agitation, Emotional lability, Bilateral tonic-clonic seizure, Involuntary movements, Motor stere...	OMIM:617171
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Agitation, Hyperactivity, Seizure, Tonic seizure, Bilateral tonic-clonic seizure...	OMIM:619970
Epilepsy, Familial Temporal Lobe, 1	Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur...	OMIM:600512
Alpers-Huttenlocher Syndrome	Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare...	ORPHA:726
Succinic Semialdehyde Dehydrogenase Deficiency	Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure	ORPHA:22
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Depression, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Attention defi...	OMIM:619191
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Infantile spasms, Bilateral tonic-clonic seizure, Impulsivity, Atypical absence se...	OMIM:617113
Landau-Kleffner Syndrome	Hyperactivity, Focal motor seizure, Impulsivity, Gait ataxia, Atypical absence seizure, Aggressiv...	ORPHA:98818
Dravet Syndrome	Cerebral atrophy, Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalize...	OMIM:607208
Phosphoserine Phosphatase Deficiency	Cerebral atrophy, Postnatal growth retardation, Hypertonia, Seizure, Intrauterine growth retardation	OMIM:614023
Spinocerebellar Ataxia, Autosomal Recessive 12	Limb ataxia, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spasticity, Cerebel...	OMIM:614322
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus	OMIM:616187
Myoclonic Epilepsy Of Infancy	Generalized non-motor (absence) seizure, Irritability, Generalized myoclonic seizure, Photosensit...	ORPHA:86909
Developmental And Epileptic Encephalopathy 11	Global brain atrophy, Hyperkinetic movements, Bilateral tonic-clonic seizure, Bilateral tonic-clo...	OMIM:613721
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Recurrent han...	OMIM:617862
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Hy...	ORPHA:599373
Developmental And Epileptic Encephalopathy 9	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:300088
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, Inflexible adheren...	OMIM:608636
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with...	OMIM:245570
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebral atrophy, Generalized myoclonic seizure, Myoclonic status epilepticus, Truncal ataxia, Ce...	OMIM:611726
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Progressive Familial Heart Block, Type Ia	Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas...	OMIM:113900
Developmental And Epileptic Encephalopathy 37	Cerebral atrophy, Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Cogwheel rigidi...	OMIM:616981
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Difficulty walking, Inability to walk, Bilateral tonic-clonic seizure, Tonic sei...	OMIM:616346
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Epilepsy, Progressive Myoclonic, 8	Limb ataxia, Falls, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar atro...	OMIM:616230
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor...	ORPHA:275872
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Dysphagia, Aggressive beha...	OMIM:615157
Lennox-Gastaut Syndrome	Irritability, Generalized myoclonic seizure, Focal-onset seizure, Falls, Hyperactivity, Bilateral...	ORPHA:2382
Guanidinoacetate Methyltransferase Deficiency	Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Chorea, Seizure, Ath...	ORPHA:382
Myoclonic Epilepsy, Familial Infantile	Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ...	OMIM:605021
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely...	OMIM:613694
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Generalized myoclonic seizure, Inability to walk, Hyperactivity, Tremor, Cerebellar atrophy, Bila...	OMIM:618090
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior	OMIM:617709
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur...	ORPHA:101039
Intellectual Developmental Disorder, Autosomal Dominant 69	Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Intention tremor	OMIM:617863
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:613158
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Epilepsy, Progressive Myoclonic, 9	Generalized myoclonic seizure, Frequent falls, Action myoclonus, Gait ataxia, Bilateral tonic-clo...	OMIM:616540
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera...	OMIM:617831
Developmental And Epileptic Encephalopathy 24	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb...	OMIM:615871
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Autosomal Dominant Epilepsy With Auditory Features	Focal-onset seizure, Nocturnal seizures, Depression, Focal aware seizure, Generalized-onset seizu...	ORPHA:101046
Benign Familial Infantile Epilepsy	Generalized non-motor (absence) seizure, Generalized clonic seizure, Hypertonia, Focal-onset seiz...	ORPHA:306
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebral atrophy, Babinski sign, Bradykinesia, Apraxia, Falls, Spasticity, Seizure, Cerebellar at...	OMIM:300423
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Spinocerebellar Ataxia 48	Babinski sign, Irritability, Depression, Chorea, Tremor, Cerebellar atrophy, Bilateral tonic-clon...	OMIM:618093
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Developmental And Epileptic Encephalopathy 34	Cerebral atrophy, Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure...	OMIM:616645
Generalized Epilepsy With Febrile Seizures-Plus	Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset...	ORPHA:36387
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebral atrophy, Focal-onset seizure, Inability to walk, Chorea, Spasticity, Cerebellar atrophy,...	OMIM:618917
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Continuous Spikes And Waves During Sleep	Typical absence seizure, Focal-onset seizure, Hyperkinetic movements, Focal motor seizure, Seizur...	ORPHA:725
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Hyperactivity, Spasticity, Seizure, Impulsivity, Gait ataxia, Rigidity, Dysphagia, Clumsiness, St...	OMIM:620448
Developmental And Epileptic Encephalopathy 109	Typical absence seizure, Hyperactivity, Spasticity, Bilateral tonic-clonic seizure, Gait ataxia, ...	OMIM:620145
Developmental And Epileptic Encephalopathy 59	Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Ataxia, Focal...	OMIM:617904
Developmental And Epileptic Encephalopathy 98	Cerebral atrophy, Focal-onset seizure, Cerebellar atrophy, Refractory status epilepticus, Bilater...	OMIM:619605
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Spastic Paraparesis-Deafness Syndrome	Impaired pain sensation, Gait disturbance, Short stature, Hemiplegia/hemiparesis, Ataxia, Spastic...	ORPHA:2815
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Aggressive behavior, Seizure, Spasticity, Bilateral tonic-clonic ...	ORPHA:208441
Alternating Hemiplegia Of Childhood 1	Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Bilateral tonic-clonic seizure	OMIM:104290
Developmental Delay With Or Without Epilepsy	Spastic gait, Generalized non-motor (absence) seizure, Focal-onset seizure, Spasticity, Seizure, ...	OMIM:620540
Developmental And Epileptic Encephalopathy 112	Cerebral atrophy, Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure...	OMIM:620537
Developmental And Epileptic Encephalopathy 74	Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica...	OMIM:618396
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei...	OMIM:618587
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Apraxia, Tetraparesis, Neuronal loss in central nervous system, Depression, Par...	OMIM:105550
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti...	OMIM:606693
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Dysplastic corpus callosum, Inability to walk, Spasticity, Seizure, Bilateral tonic-clonic seizur...	OMIM:620317
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Typical absence seizure, Incoordination, Seizure, Bilateral tonic-clonic seizure...	OMIM:616409
Autosomal Recessive Spastic Paraplegia Type 43	Spastic gait, Babinski sign, Difficulty walking, Spasticity, Poor fine motor coordination, Impair...	ORPHA:320370
Epilepsy, Progressive Myoclonic, 6	Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Tremor...	OMIM:614018
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Athetosis, Cerebellar atr...	OMIM:618141
Developmental And Epileptic Encephalopathy 52	Limb ataxia, Generalized myoclonic seizure, Spasticity, Seizure, Bilateral tonic-clonic seizure, ...	OMIM:617350
Isolated Focal Cortical Dysplasia	Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-...	ORPHA:65683
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Irritability, Emotional blunting, Inappropriate behavior, Restri...	ORPHA:275864
Autosomal Dominant Spastic Paraplegia Type 6	Babinski sign, Lower limb spasticity, Bilateral tonic-clonic seizure, Gait disturbance, Spastic p...	ORPHA:100988
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Generalized myoclonic seizure, Focal-onset seizure, Difficulty walking, Inability to walk, Seizur...	ORPHA:330050
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradykinesia, Pontocerebellar atrophy, Inability to walk, Lower limb spasticity, Oromotor apraxia...	OMIM:617854
Hypothyroidism, Congenital, Nongoitrous, 7	Growth delay, Lethargy, Short stature	OMIM:618573
Episodic Ataxia, Type 9	Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon...	OMIM:618924
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Spast...	OMIM:617389
Epilepsy, Familial Temporal Lobe, 5	Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-...	OMIM:614417
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur...	OMIM:618357
Mitochondrial Complex I Deficiency, Nuclear Type 12	Generalized myoclonic seizure, Gait imbalance, Seizure, Cerebellar atrophy, Frequent falls, Bilat...	OMIM:301020
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia...	OMIM:607682
Lissencephaly 10	Generalized non-motor (absence) seizure, Torticollis, Depression, Generalized-onset seizure, Bila...	OMIM:618873
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c...	OMIM:620465
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Focal-onset seizure, Spasticity, Tonic seizure, Bilateral tonic-clonic seizure	OMIM:613722
Seizures, Benign Familial Infantile, 5	Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617080
Cardiomyopathy, Dilated, 1L	Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati...	OMIM:606685
Clcn4-Related X-Linked Intellectual Disability Syndrome	Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Lower limb spasticity, De...	ORPHA:485350
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Chorea, Seizure, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, M...	OMIM:616139
Salt And Pepper Developmental Regression Syndrome	Irritability, Global brain atrophy, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus...	OMIM:609056
Yoon-Bellen Neurodevelopmental Syndrome	Cerebral atrophy, Inability to walk, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure...	OMIM:619701
Developmental And Epileptic Encephalopathy 26	Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset...	OMIM:616056
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:618425
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Axonal degeneration, ...	OMIM:302800
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Hartnup Disorder	Hypertonia, Emotional lability, Hyperactivity, Seizure, Episodic ataxia, Short stature, Attention...	OMIM:234500
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Cerebral atrophy, Epileptic spasm, Hyperkinetic movements, Inability to walk, Bruxism, Seizure, B...	OMIM:618497
Developmental And Epileptic Encephalopathy 91	Cerebral atrophy, Epileptic spasm, Spasticity, Focal motor seizure, Seizure, Bilateral tonic-clon...	OMIM:617711
Unilateral Hemispheric Polymicrogyria	Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat...	ORPHA:101071
Developmental And Epileptic Encephalopathy 13	Cerebral atrophy, Generalized clonic seizure, Generalized non-motor (absence) seizure, Epileptic ...	OMIM:614558
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Spinocerebellar Ataxia 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre...	OMIM:616053
Epilepsy, Familial Temporal Lobe, 8	Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph...	OMIM:616461
Developmental And Epileptic Encephalopathy 42	Hypertonia, Athetosis, Tremor, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure...	OMIM:617106
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperkinetic movements, H...	OMIM:271980
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Irritability, Inability to walk, Chorea, Seizure, ...	OMIM:607483
Foxg1 Syndrome	Hyperkinetic movements, Focal-onset seizure, Difficulty walking, Inability to walk, Bruxism, Seve...	ORPHA:561854
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Paroxysmal dyskinesia, Episodic ataxia, Bilateral tonic-clonic seizure, Spastic paraplegia, Abnor...	ORPHA:53583
Congenital Disorder Of Glycosylation, Type Iaa	Appendicular spasticity, Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Intrauterine ...	OMIM:617082
Bilateral Generalized Polymicrogyria	Focal-onset seizure, Focal motor seizure, Focal emotional seizure with laughing, Atonic seizure, ...	ORPHA:208447
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Emotional lability, Myoclonus, Frequent falls, Lowe...	ORPHA:254343
Glycosylphosphatidylinositol Biosynthesis Defect 15	Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, Tremor, Cerebell...	OMIM:617810
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri...	OMIM:601493
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo...	OMIM:615400
Polymicrogyria, Bilateral Temporooccipital	Status epilepticus, Focal impaired awareness seizure, Aggressive behavior, Bilateral tonic-clonic...	OMIM:612691
Epilepsy, Familial Adult Myoclonic, 3	Focal-onset seizure, Difficulty walking, Tremor, Bilateral tonic-clonic seizure, Myoclonus	OMIM:613608
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-c...	OMIM:617836
Lissencephaly 3	Seizure, Bilateral tonic-clonic seizure, Ataxia, Agenesis of corpus callosum, Spastic tetraplegia...	OMIM:611603
Neurodevelopmental Disorder With Involuntary Movements	Cerebral atrophy, Hyperkinetic movements, Chorea, Atrophy/Degeneration affecting the brainstem, A...	OMIM:617493
Developmental And Epileptic Encephalopathy 6B	Generalized non-motor (absence) seizure, Epileptic spasm, Hyperkinetic movements, Focal-onset sei...	OMIM:619317
Epilepsy, Familial Adult Myoclonic, 4	Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Perioral Myoclonia With Absences	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid...	ORPHA:139426
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Episodic Ataxia, Type 5	Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica...	OMIM:613855
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Focal-onset seizure, Hyperactivity, Focal motor seizure, Irritabili...	ORPHA:1929
Progressive Myoclonic Epilepsy Type 3	Cerebral atrophy, Focal myoclonic seizure, Progressive cerebellar ataxia, Photosensitive myocloni...	ORPHA:263516
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Babinski sign, Bilateral tonic-clonic seizure, Short stature, Ataxia, Myoclonus, Spastic diplegia	OMIM:619065
Rolandic Epilepsy	Focal-onset seizure, Depression, Emotional lability, Dysesthesia, Bilateral tonic-clonic seizure ...	ORPHA:1945
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Lethargy	ORPHA:79283
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Babinski sign, Ankle clonus, Seizure, Progressive spasticity, Upper motor neuron dysfunction, Pro...	ORPHA:506353
Spastic Ataxia 5, Autosomal Recessive	Generalized myoclonic seizure, Oculomotor apraxia, Dysdiadochokinesis, Spasticity, Cerebellar atr...	OMIM:614487
Epilepsy, Myoclonic Juvenile	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni...	OMIM:254770
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Seizure, Spastic tetraparesis, Cerebellar atrophy, Spastic ataxia, Progressive spastic paraparesis	ORPHA:496756
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Cerebral atrophy, Spastic gait, Bilateral tonic-clonic seizure, Gait ataxia, Spastic paraplegia, ...	OMIM:615031
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Failure to thrive, Lethargy, Agenesis of corpus callosum	OMIM:274270
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hypertonia, Hyperactivity, Seizure, Generalized-onset seizure, Spastic tetraparesis, Bilateral to...	OMIM:604317
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Seizure, Bilatera...	OMIM:619157
Dystonia 31	Abnormal posturing, Difficulty walking, Depression	OMIM:619565
Adrenoleukodystrophy	Limb ataxia, Impaired vibration sensation at ankles, Truncal ataxia, Incoordination, Seizure, Par...	OMIM:300100
Dystonia 22, Juvenile-Onset	Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atrophy, Bilateral tonic-cloni...	OMIM:620453
Mast Syndrome	Cerebral atrophy, Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetos...	OMIM:248900
Developmental And Epileptic Encephalopathy 63	Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Seizure, Generalized-onset sei...	OMIM:617976
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Developmental And Epileptic Encephalopathy 54	Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,...	OMIM:617391
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Kohlschutter-Tonz Syndrome	Cerebral atrophy, Focal-onset seizure, Spasticity, Seizure, Bilateral tonic-clonic seizure, Myocl...	OMIM:226750
Spastic Ataxia 4, Autosomal Recessive	Limb ataxia, Babinski sign, Emotional lability, Gait ataxia, Lower limb hypertonia, Spastic ataxi...	OMIM:613672
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Irritability, Aggressive behavior, Emotional lability, Spasticity, Bilateral tonic-clonic seizure...	ORPHA:199354
Paroxysmal Exertion-Induced Dyskinesia	Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Irritability, Aggressive behavior...	ORPHA:98811
Developmental And Epileptic Encephalopathy 41	Cerebral atrophy, Babinski sign, Epileptic spasm, Irritability, Myoclonic status epilepticus, Ina...	OMIM:617105
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure	OMIM:601068
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia	ORPHA:99014
Cerebellar Atrophy, Developmental Delay, And Seizures	Myoclonic seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset	OMIM:617643
Mitochondrial Complex I Deficiency, Nuclear Type 15	Irritability, Cerebellar atrophy, Bilateral tonic-clonic seizure, Neonatal death, Spastic tetrapl...	OMIM:618237
Lissencephaly, X-Linked, 1	Postnatal growth retardation, Seizure, Spasticity, Ataxia, Agenesis of corpus callosum	OMIM:300067
Spinocerebellar Ataxia Type 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Uns...	ORPHA:423275
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus, Focal hemifacial clonic seizure, ...	OMIM:608105
Myoclonic Epilepsy Of Unverricht And Lundborg	Generalized non-motor (absence) seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:254800
Developmental And Epileptic Encephalopathy 94	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ...	OMIM:615369
Pontocerebellar Hypoplasia, Type 15	Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz...	OMIM:619302
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Lethargy, Intrauterine growth retardation	OMIM:617065
Unilateral Focal Polymicrogyria	Simple febrile seizure, Spastic hemiparesis, Poor fine motor coordination, Focal motor seizure, S...	ORPHA:268947
Developmental And Epileptic Encephalopathy 99	Frontotemporal cerebral atrophy, Eyelid myoclonus, Generalized non-motor (absence) seizure, Focal...	OMIM:619606
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Hsd10 Disease	Frontotemporal cerebral atrophy, Postnatal growth retardation, Seizure, Tremor, Gait disturbance,...	ORPHA:391417
Primary Angiitis Of The Central Nervous System	Seizure, Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis	ORPHA:140989
Homocystinuria Without Methylmalonic Aciduria	Failure to thrive, Lethargy	ORPHA:622
Ceroid Lipofuscinosis, Neuronal, 3	Cerebral atrophy, Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic s...	OMIM:204200
Seizures, Benign Familial Neonatal, 2	Bilateral tonic-clonic seizure, Focal clonic seizure	OMIM:121201
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Gait imbalance, Seizure, Cerebellar atrophy, Bilateral ton...	ORPHA:488635
Developmental And Epileptic Encephalopathy 93	Cerebral atrophy, Focal-onset seizure, Inability to walk, Infantile spasms, Spastic tetraparesis,...	OMIM:618012
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:604403
Developmental And Epileptic Encephalopathy 30	Seizure, Generalized myoclonic seizure, Motor stereotypy, Bilateral tonic-clonic seizure	OMIM:616341
Pontocerebellar Hypoplasia, Type 14	Hypertonia, Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seiz...	OMIM:619301
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral atrophy, Generalized myoclonic seizure, Focal myoclonic seizure, Difficulty walking, Low...	ORPHA:464282
Encephalopathy, Progressive, With Or Without Lipodystrophy	Cerebral atrophy, Hyperactivity, Neuronal loss in central nervous system, Spasticity, Tremor, Sei...	OMIM:615924
Cardiomyopathy, Familial Hypertrophic, 26	Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril...	OMIM:617047
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Steppage gait, Distal sensory impairment, Paraparesis	OMIM:302802
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Generalized myoclonic seizure, Spastic dysarthria, Oculomotor apraxia, Dysdiadochokinesis, Spasti...	ORPHA:313772
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Irritability, Hypertonia, Brain atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic...	OMIM:617290
X-Linked Adrenoleukodystrophy	Paralysis, Hyperactivity, Incoordination, Gait disturbance, Paraparesis, Attention deficit hypera...	ORPHA:43
Late Infantile Neuronal Ceroid Lipofuscinosis	Focal-onset seizure, Hyperactivity, Cerebellar atrophy, Corpus callosum atrophy, Myoclonic seizur...	ORPHA:168491
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure	OMIM:266100
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Severe Canavan Disease	Babinski sign, Irritability, Inability to walk, Oral-pharyngeal dysphagia, Decerebrate rigidity, ...	ORPHA:314911
X-Linked Intellectual Disability, Hedera Type	Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ...	ORPHA:93952
Paraparetic Variant Of Guillain-Barré Syndrome	Impaired distal proprioception, Paraparesis	ORPHA:231445
Epilepsy, Familial Focal, With Variable Foci 4	Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Atte...	OMIM:617935
Intellectual Developmental Disorder, Autosomal Dominant 5	Torticollis, Brain atrophy, Myoclonic absence seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:612621
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset	OMIM:611630
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Hypertonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Stereotypical h...	ORPHA:289266
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Chorea, Generalized-onset seizure...	ORPHA:79137
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure...	OMIM:612899
Familial Focal Epilepsy With Variable Foci	Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se...	ORPHA:98820
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Tip-toe gait, Depression, Compulsive behaviors, Gait disturbance, Rigidity, Motor t...	OMIM:615643
Benign Familial Neonatal-Infantile Seizures	Neonatal seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se...	ORPHA:140927
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Nocturnal seizures, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Bi...	OMIM:619725
Polymicrogyria, Bilateral Perisylvian, X-Linked	Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis	OMIM:300388
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Inappropriate behavior, Nail-biting, Hyperactivity, Seizure, Generalized-onset seiz...	OMIM:619827
Late-Infantile/Juvenile Krabbe Disease	Tetraplegia, Ataxia, Clumsiness, Acroparesthesia, Hemiplegia, Irritability, Difficulty walking, S...	ORPHA:206443
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Malignant Migrating Focal Seizures Of Infancy	Cerebral atrophy, Epileptic spasm, Hypertonia, Inability to walk, Focal emotional seizure with la...	ORPHA:293181
Intellectual Developmental Disorder, X-Linked 1	Seizure, Atonic seizure, Bilateral tonic-clonic seizure, Aggressive behavior	OMIM:309530
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep...	ORPHA:2590
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Juvenile Huntington Disease	Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Depression, Chorea, ...	ORPHA:248111
Oxoglutarate Dehydrogenase Deficiency	Falls, Bilateral tonic-clonic seizure, Gait ataxia, Rigidity, Unsteady gait, Dysmetria	OMIM:203740
Developmental And Epileptic Encephalopathy 47	Limb ataxia, Agitation, Focal-onset seizure, Inability to walk, Cerebellar atrophy, Bilateral ton...	OMIM:617166
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Global brain atrophy, Inability to walk, Broad-based gait, Infantile spasms, Bilateral tonic-clon...	OMIM:618470
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Sarcosinemia	Tetraparesis, Emotional lability, Ataxia, Bilateral tonic-clonic seizure	ORPHA:3129
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Seizure, Cogwheel rigidity...	ORPHA:363654
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s...	OMIM:616172
Spastic Paraparesis And Deafness	Short stature, Spastic paraparesis, Tremor	OMIM:312910
Developmental And Epileptic Encephalopathy 4	Cerebral atrophy, Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Trem...	OMIM:612164
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebral atrophy, Babinski sign, Generalized non-motor (absence) seizure, Cerebellar vermis atrop...	OMIM:618170
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Lethargy	ORPHA:26
Developmental And Epileptic Encephalopathy 103	Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Hyperactivity, Bilate...	OMIM:619913
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Severe Neonatal-Onset Encephalopathy With Microcephaly	Cerebral atrophy, Spasticity, Seizure, Bilateral tonic-clonic seizure, Involuntary movements, Gro...	ORPHA:209370
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Weight loss	ORPHA:30925
Muscular Dystrophy, Becker Type	Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG, Arrhythmia	OMIM:300376
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Cerebellar ...	OMIM:619028
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Focal-onset seizure, Inability to walk, Chorea, Stereotypical hand wringing, Convulsive status ep...	OMIM:618760
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Neonatal death, Lethargy, Agenesis of corpus callosum	OMIM:610498
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG	OMIM:309930
Aminoacylase 1 Deficiency	Cerebral atrophy, Hyperactivity, Seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cer...	OMIM:609924
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Reduced left ventricular ejection fraction, Elevated circulating ...	OMIM:181350
Gm2 Gangliosidosis, Ab Variant	Cerebral atrophy, Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced beh...	ORPHA:309246
Fatty Acid Hydroxylase-Associated Neurodegeneration	Progressive spastic paraparesis, Focal-onset seizure, Falls, Depression, Cerebellar vermis atroph...	ORPHA:329308
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Congenital Disorder Of Glycosylation, Type Iiy	Atrophy/Degeneration affecting the brainstem, Bilateral tonic-clonic seizure, Cerebral cortical a...	OMIM:620200
Vitamin B12-Unresponsive Methylmalonic Acidemia	Seizure, Paraparesis, Ataxia, Choreoathetosis, Tetraparesis	ORPHA:27
Familial Infantile Myoclonic Epilepsy	Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni...	ORPHA:352582
Autosomal Dominant Spastic Paraplegia Type 73	Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Impaired vibration sensat...	ORPHA:444099
Brain Small Vessel Disease 2	Focal-onset seizure, Bilateral tonic-clonic seizure, Growth delay, Spastic tetraplegia, Hemiplegia	OMIM:614483
Autosomal Recessive Spastic Paraplegia Type 11	Inability to walk, Abnormality of extrapyramidal motor function, Frontal cortical atrophy, Seizur...	ORPHA:2822
Infantile Cerebellar-Retinal Degeneration	Focal-onset seizure, Athetosis, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral cort...	OMIM:614559
Centralopathic Epilepsy	Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset	OMIM:117100
Developmental And Epileptic Encephalopathy 106	Postnatal growth retardation, Limb hypertonia, Infantile spasms, Tonic seizure, Bilateral tonic-c...	OMIM:620028
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bradykinesia, Akinesia, Resting tremor, Focal motor seizure, Seizure, Freezing of gait, Bilateral...	OMIM:619911
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Impulsivity, Gait ataxia, Myoclonic seizure, Ataxia, Opisthotonus, Aggressive...	OMIM:619580
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Generalized non-motor (absence) seizure, Focal-onset seizure, Spastic hemiparesis, Spasticity, Se...	OMIM:619616
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Muscle Filaminopathy	Right bundle branch block, Cardiomyopathy, Mildly elevated creatine kinase, Left ventricular dias...	ORPHA:171445
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Seizure, Bilatera...	ORPHA:529665
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-...	OMIM:616685
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur...	ORPHA:1941
Cardiomyopathy, Familial Hypertrophic, 2	Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br...	OMIM:115195
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ...	OMIM:609253
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Dysphagia, Tip-toe ga...	OMIM:614877
Beta-Propeller Protein-Associated Neurodegeneration	Cerebral atrophy, Bradykinesia, Seizure, Tremor, Cerebellar atrophy, Rigidity, Parkinsonism, Spas...	ORPHA:329284
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of ...	OMIM:620292
Febrile Seizures, Familial, 11	Hippocampal atrophy, Febrile seizure (within the age range of 3 months to 6 years), Focal impaire...	OMIM:614418
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb...	OMIM:613863
Intellectual Developmental Disorder, Autosomal Dominant 45	Generalized non-motor (absence) seizure, Hyperactivity, Chorea, Recurrent hand flapping, Cerebral...	OMIM:617600
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Right bundle branch block, Dilated cardiomyopathy, Elevate...	ORPHA:206559
Short Chain Acyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Failure to thrive, Lethargy	ORPHA:26792
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance	ORPHA:67047
Rolandic Epilepsy-Speech Dyspraxia Syndrome	Speech apraxia, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset	ORPHA:163721
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines, Bilateral tonic-clonic seizure	OMIM:301076
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:300695
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Epilepsy, Idiopathic Generalized	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:600669
Spastic Paraplegia 48, Autosomal Recessive	Spastic gait, Tip-toe gait, Lower limb spasticity, Broad-based gait, Spastic paraplegia, Ataxia, ...	OMIM:613647
Gaba-Transaminase Deficiency	Lethargy, Agenesis of corpus callosum	OMIM:613163
Developmental And Epileptic Encephalopathy 82	Cerebral atrophy, Inability to walk, Seizure, Short stature, Spastic tetraplegia, Spastic parapar...	OMIM:618721
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Cataracts, Spastic Paraparesis, And Speech Delay	Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com...	OMIM:619338
Developmental And Epileptic Encephalopathy 79	Frontotemporal cerebral atrophy, Bilateral tonic-clonic seizure with generalized onset, Spasticit...	OMIM:618559
Spastic Paraplegia 75, Autosomal Recessive	Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Cerebellar atrophy, Impaired distal ...	OMIM:616680
Intellectual Developmental Disorder, X-Linked 30	Generalized non-motor (absence) seizure, Agitation, Hyperactivity, Seizure, Bilateral tonic-cloni...	OMIM:300558
Glycine Encephalopathy 1	Lethargy, Agenesis of corpus callosum	OMIM:605899
Developmental And Epileptic Encephalopathy 61	Cerebral atrophy, Spasticity, Seizure, Bilateral tonic-clonic seizure with focal onset, Loss of a...	OMIM:617933
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, ...	ORPHA:3077
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Head tremor, Cerebral cortical atrophy...	OMIM:619428
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila...	OMIM:613060
Epilepsy, Familial Temporal Lobe, 2	Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ...	OMIM:608096
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Colpocepha...	ORPHA:250972
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Chorea, Seizure, Spasticity, Bilateral tonic-clonic seizure, Status epilepticus, Focal impaired a...	OMIM:613970
Lafora Disease	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Inab...	ORPHA:501
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Developmental And Epileptic Encephalopathy 90	Cerebral atrophy, Babinski sign, Focal-onset seizure, Limb hypertonia, Bilateral tonic-clonic sei...	OMIM:301058
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:604233
Autosomal Recessive Spastic Paraplegia Type 25	Spastic paraplegia, Paraparesis	ORPHA:101005
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Depression, Emotional lability, Poor fine motor coordination, Seizure, Cerebell...	ORPHA:79264
Developmental And Epileptic Encephalopathy 28	Cerebral atrophy, Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic ...	OMIM:616211
Seizures, Benign Familial Infantile, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ...	OMIM:607745
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr...	ORPHA:363549
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Seizure, Bilateral tonic-clonic seizure, Involuntary movements, Growth delay, ...	OMIM:615716
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Hyperkinetic movements, Depression, Seizure, Tremor, Bilateral tonic-clonic seizure, Gait disturb...	ORPHA:457240
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Generalized myoclonic seizure, Truncal ataxia, Dysdiadochokinesis, Spasticity, Clon...	OMIM:238970
Leukodystrophy, Hypomyelinating, 2	Cerebral atrophy, Babinski sign, Seizure, Progressive spasticity, Focal aware seizure, Intention ...	OMIM:608804
Spastic Paraplegia 20, Autosomal Recessive	Spastic gait, Babinski sign, Difficulty walking, Impaired vibration sensation at ankles, Lower li...	OMIM:275900
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Developmental And Epileptic Encephalopathy 108	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T...	OMIM:620115
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t...	OMIM:611364
Neurodegeneration With Brain Iron Accumulation 5	Cerebral atrophy, Bradykinesia, Akinesia, Seizure, Tremor, Cerebellar atrophy, Rigidity, Parkinso...	OMIM:300894
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Hyperlysinuria With Hyperammonemia	Growth delay, Lethargy	OMIM:238750
Peho-Like Syndrome	Status epilepticus, Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonus	OMIM:617507
Developmental And Epileptic Encephalopathy 23	Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atonic seizure, Myoclonus, Focal...	OMIM:615859
Pulmonary Hypertension, Primary, 4	Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ...	OMIM:615344
Central Diabetes Insipidus	Depression, Failure to thrive, Lethargy, Weight loss	ORPHA:178029
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Generalized non-motor (absence) seizure, Hypertonia, Seizure, Bilateral tonic-clonic seizure, Ste...	OMIM:619854
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizur...	OMIM:618010
Developmental And Epileptic Encephalopathy 66	Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B...	OMIM:618067
Isolated Succinate-Coq Reductase Deficiency	Babinski sign, Generalized myoclonic seizure, Focal myoclonic seizure, Irritability, Spasticity, ...	ORPHA:3208
Sulfite Oxidase Deficiency, Isolated	Cerebral atrophy, Hypertonia, Agitation, Bilateral tonic-clonic seizure, Ataxia, Hemiplegia, Chor...	OMIM:272300
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Atypical absence seizure, Bilateral tonic-clonic seizure	OMIM:600176
Gaucher Disease, Type Iii	Generalized myoclonic seizure, Depression, Short stature, Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t...	OMIM:617924
Intellectual Developmental Disorder, X-Linked 100	Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:300923
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607631
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure	OMIM:620461
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ...	OMIM:224700
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Inability to walk, Focal emotional seizure with laughing, Bilatera...	OMIM:619881
Mitochondrial Complex I Deficiency, Nuclear Type 13	Cerebral atrophy, Irritability, Spasticity, Focal motor seizure, Bilateral tonic-clonic seizure	OMIM:618235
Intellectual Developmental Disorder With Seizures And Language Delay	Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:619000
Arachnoid Cyst	Irritability, Distal sensory impairment, Inability to walk, Depression, Seizure, Gait disturbance...	ORPHA:2356
Migraine, Familial Hemiplegic, 2	Apraxia, Focal motor seizure, Tremor, Cerebellar atrophy, Episodic ataxia, Bilateral tonic-clonic...	OMIM:602481
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Spasticity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic...	OMIM:610042
Epilepsy, Familial Temporal Lobe, 6	Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the...	OMIM:615697
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
X-Linked Charcot-Marie-Tooth Disease Type 3	Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis, Somatic sen...	ORPHA:101077
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Failure to thrive, Lethargy	OMIM:613561
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	OMIM:607628
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Lethargy	ORPHA:28
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Seizures, Benign Familial Infantile, 2	Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ...	OMIM:605751
Prune1-Related Neurological Syndrome	Cerebral atrophy, Epileptic spasm, Inability to walk, Tongue fasciculations, Seizure, Spastic tet...	ORPHA:544469
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Cerebral atrophy, Irritability, Inability to walk, Bilateral tonic-clonic seizure	ORPHA:457205
Intellectual Developmental Disorder, Autosomal Dominant 74	Typical absence seizure, Hypertonia, Bilateral tonic-clonic seizure, Motor tics, Intrauterine gro...	OMIM:620688
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, Gait ataxia, Bilateral ton...	ORPHA:254881
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Central Neurocytoma	Depression, Abnormal lateral ventricle morphology, Lethargy	ORPHA:73256
Epilepsy, Childhood Absence, Susceptibility To, 1	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:600131
Febrile Seizures, Familial, 8	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:607681
Huntington Disease-Like 1	Abnormal posturing, Bradykinesia, Depression, Chorea, Gait disturbance, Gait ataxia, Dysmetria	ORPHA:157941
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Focal hyperkinetic seizure, Nocturnal seizures, Depression, Bilateral tonic-clonic seizure, Invol...	ORPHA:98784
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Difficulty walking, Chorea, Truncal ataxia, Waddling gait, Bilateral tonic-clonic seizure	ORPHA:369840
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Increased cerebral lipofuscin, Seizure, Intention tremor, Bilateral tonic-clonic seizure with foc...	OMIM:610539
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Generalized non-motor (absence) seizure, Hypertonia, Seizure, Spasticity, Bilateral tonic-clonic ...	OMIM:616281
Chromosome 22Q13 Duplication Syndrome	Emotional lability, Polyphagia, Impulsivity, Bilateral tonic-clonic seizure, Attention deficit hy...	OMIM:615538
Childhood Absence Epilepsy	Typical absence seizure, Depression, Myoclonic absence seizure, Bilateral tonic-clonic seizure, A...	ORPHA:64280
Alfadhel Syndrome	Seizure, Bilateral tonic-clonic seizure, Spastic paraplegia, Short stature, Aggressive behavior	OMIM:620655
Poliomyelitis	Anorexia, Irritability, Fatigable weakness of respiratory muscles, Hyperkinetic movements, Agitat...	ORPHA:2912
Intellectual Developmental Disorder, Autosomal Recessive 44	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:615942
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Focal-onset seizure, Lower limb spasticity, Hyperactivity, Cerebellar v...	ORPHA:163681
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril...	ORPHA:263297
Systemic Primary Carnitine Deficiency	Clumsiness, Bilateral tonic-clonic seizure with focal onset	ORPHA:158
Cerebrotendinous Xanthomatosis	Babinski sign, Global brain atrophy, Agitation, Aggressive behavior, Axonal degeneration, Resting...	ORPHA:909
Seizures, Benign Familial Infantile, 1	Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal impaired awareness se...	OMIM:601764
Bilateral Perisylvian Polymicrogyria	Focal-onset seizure, Limb hypertonia, Oromotor apraxia, Lower limb spasticity, Focal sensory seiz...	ORPHA:98889
Intellectual Developmental Disorder, Autosomal Recessive 41	Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur...	OMIM:615637
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Irritability, Hypertonia, Hair-pulling, Lower limb spasticity, Hyperactivity, Brain atrophy, Infa...	ORPHA:447997
Alexander Disease Type Ii	Babinski sign, Spasticity, Rigidity, Ataxia, Dysphagia, Spastic paraparesis, Cervical spinal cord...	ORPHA:363722
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Failure to thrive, Lethargy, Agenesis of corpus callosum	OMIM:250620
Diabetes Mellitus, Permanent Neonatal, 2	Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset	OMIM:618856
Dentici-Novelli Neurodevelopmental Syndrome	Epileptic spasm, Hypertonia, Inability to walk, Bilateral tonic-clonic seizure, Myoclonic seizure...	OMIM:619877
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Primary Lateral Sclerosis	Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastici...	ORPHA:35689
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Inability to walk, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, A...	ORPHA:79243
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Short stature, Failure to thrive, Lethargy	ORPHA:2089
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Lethargy, Agenesis of corpus callosum	OMIM:312170
Intellectual Developmental Disorder, X-Linked 98	Generalized non-motor (absence) seizure, Postnatal growth retardation, Generalized myoclonic seiz...	OMIM:300912
Argininemia	Spastic gait, Irritability, Anorexia, Postnatal growth retardation, Hyperactivity, Seizure, Cereb...	OMIM:207800
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Lissencephaly 9 With Complex Brainstem Malformation	Seizure, Spasticity, Infantile spasms, Bilateral tonic-clonic seizure, Involuntary movements, Sho...	OMIM:618325
Hypercalcemia, Infantile, 1	Failure to thrive, Lethargy, Weight loss	OMIM:143880
D-Glyceric Aciduria	Focal clonic seizure, Appendicular spasticity, Tongue thrusting, Spasticity, Seizure, Bilateral t...	OMIM:220120
Idiopathic Intracranial Hypertension	Depression, Obesity, Lethargy	ORPHA:238624
Mitochondrial Complex I Deficiency, Nuclear Type 5	Growth delay, Failure to thrive, Lethargy	OMIM:618226
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Babinski sign, Global brain atrophy, Hypertonia, Generalized myoclonic seizure, Hypoglycemic seiz...	ORPHA:480864
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Combined Oxidative Phosphorylation Deficiency 27	Cerebral atrophy, Global brain atrophy, Chorea, Cerebellar atrophy, Bilateral tonic-clonic seizur...	OMIM:616672
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Lowe...	ORPHA:395
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R...	OMIM:115197
Mitochondrial Complex I Deficiency, Nuclear Type 6	Failure to thrive, Lethargy	OMIM:618228
Loeffler Endocarditis	Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b...	ORPHA:75566
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi...	ORPHA:101016
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Irritability, Global brain atrophy, Focal myoclonic seizure, Difficulty walking, Inability to wal...	ORPHA:481152
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Myoclonus	OMIM:607876
Thyroid Dyshormonogenesis 1	Growth delay, Lethargy	OMIM:274400
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Irritability, Hypertonia, Seizure, Infantile spasms, Cerebellar atrophy, Spasticity, Bilateral to...	ORPHA:544503
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Lethargy	ORPHA:276608
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigable weakness of neck muscles, Cachexia, Lethargy, Fatigable weakness	ORPHA:42
Glycogen Storage Disease 0, Muscle	Bilateral tonic-clonic seizure	OMIM:611556
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Pontocerebellar Hypoplasia, Type 6	Failure to thrive, Lethargy	OMIM:611523
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Ritscher-Schinzel Syndrome 4	Focal-onset seizure, Chorea, Athetosis, Bilateral tonic-clonic seizure, Impulsivity, Short statur...	OMIM:619435
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Epileptic spasm, Inability to walk, Lower limb spasticity, Atrophy/Degeneration affecting the bra...	OMIM:617193
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Generalized non-motor (absence) seizure, Epileptic spasm, Hypertonia, Generalized myoclonic seizu...	ORPHA:79351
Pelizaeus-Merzbacher Disease In Female Carriers	Babinski sign, Difficulty walking, Inability to walk, Lower limb spasticity, Generalized-onset se...	ORPHA:280229
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Failure to thrive, Lethargy	OMIM:236270
Developmental And Epileptic Encephalopathy 8	Hypertonia, Tonic seizure, Bilateral tonic-clonic seizure, Exaggerated startle response, Focal im...	OMIM:300607
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Failure to thrive in infancy, Lethargy	OMIM:619064
Choreoacanthocytosis	Hair-pulling, Socially inappropriate behavior, Hyperactivity, Chorea, Head-banging, Head titubati...	ORPHA:2388
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Failure to thrive, Lethargy	OMIM:611590
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Short stature, Failure to thrive, Lethargy, Growth delay	OMIM:250940
Neurodegeneration With Brain Iron Accumulation 2B	Cerebral atrophy, Babinski sign, Hypertonia, Bradykinesia, Emotional lability, Chorea, Dysdiadoch...	OMIM:610217
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Glutaric Acidemia Type 3	Failure to thrive, Lethargy	ORPHA:35706
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Postnatal growth retardation, Depression, Hyperactivity, Seizure, Poor fine motor coordination, D...	OMIM:620242
Farber Disease	Brain atrophy, Seizure, Spasticity, Infantile spasms, Paraparesis, Short stature, Myoclonus	ORPHA:333
Atrial Septal Defect, Ostium Primum Type	Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla...	ORPHA:99106
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure	OMIM:249650
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ...	ORPHA:563
Bilateral Polymicrogyria	Generalized myoclonic seizure, Focal-onset seizure, Spastic hemiparesis, Cerebellar ataxia associ...	ORPHA:268940
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Facial-lingual fasciculations, Hyperactivity, Spasticity, Exaggerated...	OMIM:617281
Sandhoff Disease, Infantile Form	Spasticity, Seizure, Exaggerated startle response, Bilateral tonic-clonic seizure, Cerebral corti...	ORPHA:309155
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Large for gestational age, Lethargy	ORPHA:324575
Cyclic Vomiting Syndrome	Growth delay, Lethargy	OMIM:500007
X-Linked Intellectual Disability Due To Gria3 Mutations	Babinski sign, Seizure, Spasticity, Bilateral tonic-clonic seizure, Short stature, Pain insensiti...	ORPHA:364028
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebral atrophy, Babinski sign, Hypertonia, Generalized non-motor (absence) seizure, Spasticity,...	OMIM:615802
Alternating Hemiplegia Of Childhood	Paroxysmal dyskinesia, Anorexia, Oculomotor apraxia, Oral-pharyngeal dysphagia, Emotional labilit...	ORPHA:2131
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Lethargy	ORPHA:49827
Riboflavin Deficiency	Lethargy	OMIM:615026
Lissencephaly Due To Tuba1A Mutation	Dysplastic corpus callosum, Focal-onset seizure, Spasticity, Infantile spasms, Bilateral tonic-cl...	ORPHA:171680
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Lethargy	OMIM:618120
Intellectual Developmental Disorder, Autosomal Dominant 42	Focal-onset seizure, Cerebral palsy, Myoclonic seizure, Atonic seizure, Dysphagia, Motor tics, My...	OMIM:616973
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy	OMIM:246900
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Gait imbalance, Tongue thrusting, Broad-based gait, Bilateral tonic-clonic seizure with generaliz...	ORPHA:98795
Intellectual Developmental Disorder, Autosomal Dominant 54	Irritability, Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Inability t...	OMIM:617799
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ...	ORPHA:75565
Intellectual Developmental Disorder, Autosomal Dominant 38	Cerebral atrophy, Hair-pulling, Infantile spasms, Ataxia, Motor stereotypy, Self-injurious behavi...	OMIM:616393
Leukodystrophy, Hypomyelinating, 3	Global brain atrophy, Appendicular spasticity, Seizure, Corpus callosum atrophy, Abnormal pyramid...	OMIM:260600
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Generalized non-motor (absence) seizure, Global brain atrophy, Generalized myoclonic seizure, Ina...	ORPHA:457351
Houge-Janssens Syndrome 3	Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil...	OMIM:618354
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
D-2-Hydroxyglutaric Aciduria 1	Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Late...	OMIM:600721
Spinal Cord Injury	Syringomyelia, Allodynia, Spinal cord lesion	ORPHA:90058
Adult Krabbe Disease	Hoffmann sign, Babinski sign, Impaired tactile sensation, Broad-based gait, Clumsiness, Spasticit...	ORPHA:206448
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Inability to walk, Limb hypertonia, Seizure, Bilateral tonic-clonic seizure, Growth delay, Focal ...	ORPHA:488613
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Bilateral tonic-clonic seizure	OMIM:240900
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Lethargy	ORPHA:276556
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Focal myoclonic seizure, Seizure, Athetosis, Cerebral palsy, Bilateral tonic-clonic s...	ORPHA:369929
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Holocarboxylase Synthetase Deficiency	Growth delay, Lethargy, Weight loss	ORPHA:79242
Pyruvate Dehydrogenase E3 Deficiency	Failure to thrive, Lethargy	ORPHA:2394
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Limb hypertonia, Appendicular spasticity, Brain atrophy, Cerebral palsy, Bilateral tonic-clonic s...	OMIM:620070
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Lethargy	ORPHA:79312
Canavan Disease	Epileptic spasm, Brain atrophy, Bilateral tonic-clonic seizure, Opisthotonus, Abnormal pyramidal ...	OMIM:271900
Acute Transverse Myelitis	Babinski sign, Impaired proprioception, Paraplegia, Abnormality of extrapyramidal motor function,...	ORPHA:139417
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Brain atrophy, Spasticity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Foca...	OMIM:619983
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block, Elevated circulating creatine kinase concentration	ORPHA:254361
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Bradykinesia, Chorea, Titubation, Gait disturbance, Gait ataxia	ORPHA:225147
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef...	ORPHA:439
Early Infantile Epileptic Encephalopathy	Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Hyperac...	ORPHA:1934
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Fasciculations, Tetraplegia, Progressive spasticity, Cerebellar atrophy, Cataplexy, Spasticity, B...	ORPHA:496641
Molybdenum Cofactor Deficiency, Complementation Group B	Cerebral atrophy, Irritability, Hypertonia, Seizure, Bilateral tonic-clonic seizure, Myoclonic sp...	OMIM:252160
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Focal impaired awareness seizure, Bilateral tonic-clonic seizure	OMIM:617468
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Lethargy	ORPHA:276575
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Lethargy	ORPHA:289916
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Paraplegia, Hemiparesis, Bilateral tonic-clonic seizure, Paraparesis	ORPHA:79124
Warburg Micro Syndrome 3	Postnatal growth retardation, Inability to walk, Lower limb spasticity, Bilateral tonic-clonic se...	OMIM:614222
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Lethargy	ORPHA:276580
Methylcobalamin Deficiency Type Cble	Intrauterine growth retardation, Failure to thrive, Postnatal growth retardation, Lethargy	ORPHA:2169
Hemochromatosis, Type 2A	Lethargy	OMIM:602390
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Hemiparesis, Bilateral tonic-clonic seizure	OMIM:540000
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Memory impairment, Depression, Ataxia, Dementia, Narcolepsy	OMIM:604121
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Mitochondrial Membrane Protein-Associated Neurodegeneration	Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Frequent falls, Gait disturbance, Rigidi...	ORPHA:289560
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Jaberi-Elahi Syndrome	Inability to walk, Appendicular spasticity, Broad-based gait, Cerebellar vermis atrophy, Tremor, ...	OMIM:617988
Citrullinemia Type I	Failure to thrive, Lethargy	ORPHA:247525
Dk1-Cdg	Focal-onset seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Short stature	ORPHA:91131
Resistance To Thyrotropin-Releasing Hormone Syndrome	Depression, Overweight, Lethargy, Growth delay	ORPHA:99832
Hjv Or Hamp-Related Hemochromatosis	Lethargy	ORPHA:79230
Molybdenum Cofactor Deficiency, Complementation Group C	Generalized myoclonic seizure, Hypertonia, Limb hypertonia, Generalized-onset seizure, Bilateral ...	OMIM:615501
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Elevated circulating creatine kinase concentration	OMIM:616479
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Postnatal growth retardation, Hypertonia, Bilateral tonic-clonic seizure	ORPHA:79350
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Failure to thrive, Lethargy	OMIM:614857
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Combined Oxidative Phosphorylation Deficiency 52	Lethargy	OMIM:619386
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Failure to thrive, Lethargy	OMIM:237300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic tetraparesis, Cerebral palsy, Paraparesis, Spastic ataxia, Dysphagia	OMIM:620358
Myoclonic Epilepsy Of Lafora 1	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Apraxia, Bilateral tonic-...	OMIM:254780
Spinal Arteriovenous Metameric Syndrome	Paraparesis	ORPHA:53721
New-Onset Refractory Status Epilepticus	Global brain atrophy, Seizure precipitated by febrile infection, Focal aware motor seizure, Refra...	ORPHA:363558
Sjogren-Larsson Syndrome	Seizure, Spastic paraparesis, Spasticity, Short stature	OMIM:270200
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Paraplegia, Positive Romberg sign, Truncal ataxia, Tremor, Spasticity, Seizure, Inte...	OMIM:105210
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Tip-toe gait, Inability to walk, Gait disturbance	ORPHA:216866
De Sanctis-Cacchione Syndrome	Cerebral atrophy, Babinski sign, Global brain atrophy, Hypertonia, Scissor gait, Axonal degenerat...	OMIM:278800
Developmental And Epileptic Encephalopathy 100	Cerebral atrophy, Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Cho...	OMIM:619777
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
Idiopathic Congenital Hypothyroidism	Lethargy	ORPHA:95717
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Developmental And Epileptic Encephalopathy 95	Cerebral atrophy, Focal-onset seizure, Inability to walk, Cerebellar vermis atrophy, Seizure, Cer...	OMIM:618143
Hyperekplexia 3	Hypertonia, Bilateral tonic-clonic seizure, Exaggerated startle response, Myoclonus	OMIM:614618
Propionic Acidemia	Short stature, Failure to thrive, Lethargy	OMIM:606054
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Failure to thrive, Lethargy	ORPHA:927
Susac Syndrome	Apathy, Lethargy	ORPHA:838
Pyruvate Dehydrogenase Deficiency	Intrauterine growth retardation, Lethargy, Growth delay	ORPHA:765
Classic Galactosemia	Depression, Lethargy, Delayed puberty	ORPHA:79239
Multiple Mitochondrial Dysfunctions Syndrome 1	Failure to thrive, Neonatal death, Lethargy	OMIM:605711
Coasy Protein-Associated Neurodegeneration	Compulsive behaviors, Spastic paraparesis, Difficulty walking, Parkinsonism	ORPHA:397725
Combined Oxidative Phosphorylation Defect Type 29	Global brain atrophy, Axonal degeneration, Bilateral tonic-clonic seizure, Myoclonic spasms, Diff...	ORPHA:478029
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebral atrophy, Babinski sign, Generalized non-motor (absence) seizure, Seizure, Cerebellar atr...	OMIM:615398
Myotonic Dystrophy 2	Right bundle branch block, Elevated circulating creatine kinase concentration, Premature ventricu...	OMIM:602668
Carnitine Deficiency, Systemic Primary	Failure to thrive, Lethargy	OMIM:212140
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se...	OMIM:615476
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Babinski sign, Impaired proprioception, Difficulty walking, Sensory ataxia, Impaired vibratory se...	OMIM:500013
Oculodentodigital Dysplasia	Spasticity, Seizure, Paraparesis, Ataxia, Tetraparesis	OMIM:164200
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Amish Lethal Microcephaly	Limb hypertonia, Irritability, Bilateral tonic-clonic seizure, Agenesis of corpus callosum	ORPHA:99742
Dihydropyrimidinase Deficiency	Growth delay, Failure to thrive, Lethargy	OMIM:222748
Sandhoff Disease	Impaired temperature sensation, Fasciculations, Spasticity, Upper motor neuron dysfunction, Exagg...	OMIM:268800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Generalized non-motor (absence) seizure, Inability to walk, Brain atrophy, Seizure, Bilateral ton...	OMIM:614207
3-Methylglutaconic Aciduria, Type Viia	Generalized-onset seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure, Atypical absence s...	OMIM:619835
Congenital Insensitivity To Pain With Severe Intellectual Disability	Self-mutilation, Bilateral tonic-clonic seizure, Pain insensitivity, Impaired tactile sensation	ORPHA:453510
Igg4-Related Pachymeningitis	Seizure, Somatic sensory dysfunction, Dysphagia, Paraparesis	ORPHA:449427
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Calcinosis, Elevated circulating C-reactive protein concentration, A...	ORPHA:93672
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Atrial fibrillation, Right bundle branch block, Cerebral ischemia, Arrh...	ORPHA:1880
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Babinski sign, Limb hypertonia, Spastic tetraparesis, Bilateral tonic-clonic seizure, Clonus, Sho...	ORPHA:423479
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Failure to thrive, Lethargy	OMIM:615838
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating creatine kinase concentration, Arrhythmia, Ventricular bigeminy, Left bundle...	OMIM:610131
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Aggressive behavior	OMIM:616083
Isolated Atp Synthase Deficiency	Short stature, Lethargy	ORPHA:254913
Autosomal Recessive Spastic Paraplegia Type 20	Spastic gait, Babinski sign, Spastic dysarthria, Emotional lability, Spasticity, Speech apraxia, ...	ORPHA:101000
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Inability to walk, Depression	OMIM:128100
Combined Oxidative Phosphorylation Deficiency 58	Epilepsia partialis continua, Difficulty walking, Appendicular spasticity, Cerebellar atrophy, Ex...	OMIM:620451
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Spasticity, Athetosis, Cerebral palsy, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic...	OMIM:615474
Renal Hypoplasia, Bilateral	Short stature, Failure to thrive, Growth delay, Lethargy, Small for gestational age	ORPHA:97362
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy	OMIM:233910
Pelger-Huet Anomaly	Lower limb hypertonia, Seizure, Bilateral tonic-clonic seizure, Mild short stature	OMIM:169400
Paget Disease Of Bone 2, Early-Onset	Tetraparesis, Paraparesis	OMIM:602080
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Failure to thrive, Lethargy	OMIM:210200
Intellectual Developmental Disorder, Autosomal Dominant 53	Generalized non-motor (absence) seizure, Irritability, Bilateral tonic-clonic seizure, Involuntar...	OMIM:617798
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Agitation, Hyperactivity, Incoordination, Short stature, Ataxia, Restlessness, Overfriendliness, ...	ORPHA:369891
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Motor stereotypy, Bilateral tonic-clonic seizure, Broad-based gait	OMIM:616351
Coenzyme Q10 Deficiency, Primary, 3	Focal motor status epilepticus, Bilateral tonic-clonic seizure with focal onset	OMIM:614652
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy	OMIM:600649
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Lethargy	OMIM:237310
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Head-banging, Bilateral tonic-clonic seizure	OMIM:619356
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intrauterine growth retardation, Failure to thrive, Lethargy, Growth delay	ORPHA:79284
Scorpion Envenomation	Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia...	ORPHA:466677
Isovaleric Acidemia	Lethargy	OMIM:243500
3P25.3 Microdeletion Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se...	ORPHA:435638
Evans Syndrome	Lethargy	ORPHA:1959
Japanese Encephalitis	Pill-rolling tremor, Anorexia, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extra...	ORPHA:79139
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Short stature, Failure to thrive, Lethargy	OMIM:201100
Insulinoma	Increased body weight, Lethargy	ORPHA:97279
Ogden Syndrome	Postnatal growth retardation, Lethargy	ORPHA:276432
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Neonatal death, Lethargy	OMIM:614922
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Seizure, Unsteady gait, Spastic paraparesis, Hand tremor, Self-mutilation, Dysmetria	ORPHA:3041
Trigeminal Neuralgia	Allodynia	ORPHA:221091
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebral atrophy, Global brain atrophy, Hypertonia, Spasticity, Seizure, Cerebellar atrophy, Bila...	OMIM:618426
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Failure to thrive, Lethargy	OMIM:609015
Biotinidase Deficiency	Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Bilateral tonic-cl...	ORPHA:79241
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Failure to thrive, Rhizomelia, Lethargy	OMIM:607143
Glass Syndrome	Broad-based gait, Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Frequent temper tantrum...	OMIM:612313
Rift Valley Fever	Anorexia, Decerebrate rigidity, Paraparesis, Hemiparesis, Paralysis	ORPHA:319251
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Increased body weight, Lethargy	ORPHA:263455
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Focal clonic seizure, Bilateral tonic-clonic seizure, Intention tremor	OMIM:618381
Infantile Liver Failure Syndrome 2	Lethargy	OMIM:616483
Melas	Focal-onset seizure, Depression, Brain atrophy, Seizure, Bilateral tonic-clonic seizure, Gait dis...	ORPHA:550
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Epileptic spasm, Hypertonia, Focal-onset seizure, Generalized-onset seizure, Tonic seizure, Bilat...	OMIM:620024
Typhoid	Lethargy	ORPHA:99745
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Generalized non-motor (absence) seizure, Inability to walk by childhood/adolescence, Torticollis,...	OMIM:620224
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Delayed puberty, Broad-based gait, Severe postnatal growth retardation, Seizure, Proportionate sh...	ORPHA:391408
Familial Hypoaldosteronism	Growth delay, Failure to thrive, Lethargy	ORPHA:427
Congenital-Onset Steinert Myotonic Dystrophy	First degree atrioventricular block, Bundle branch block	ORPHA:589821
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Bilateral tonic-clonic seizure, Lateral ventricle dilatation	OMIM:619278
X-Linked Charcot-Marie-Tooth Disease Type 2	Babinski sign, Steppage gait, Distal sensory impairment, Gait disturbance, Spastic paraparesis, H...	ORPHA:101076
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv...	ORPHA:70591
Pseudo-Torch Syndrome 2	Lethargy, Lateral ventricle dilatation	OMIM:617397
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy	OMIM:614299
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Difficulty walking, Gait imbalance, Seizure, Gait disturbance, Bilate...	ORPHA:488627
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Small for gestational age, Failure to thrive, Lethargy, Short stature	OMIM:277380
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Lethargy	OMIM:251000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Failure to thrive, Lethargy, Proportionate short stature	ORPHA:71212
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Generalized non-motor (absence) seizure, Epileptic spasm, Hypertonia, Focal-onset seizure, Head-b...	OMIM:620455
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy	ORPHA:156
Pudendal Neuralgia	Allodynia	ORPHA:60039
Purine Nucleoside Phosphorylase Deficiency	Hypertonia, Hyperactivity, Spasticity, Cerebral palsy, Ataxia, Spastic paraparesis, Abnormal cent...	ORPHA:760
Hypermanganesemia With Dystonia 1	Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi...	OMIM:613280
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure	OMIM:618832
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Right bundle branch block, Abnormal EKG, Redu...	ORPHA:268
Hyperphosphatasia-Intellectual Disability Syndrome	Oculomotor apraxia, Seizure, Bilateral tonic-clonic seizure, Gait disturbance, Growth delay, Atax...	ORPHA:247262
Citrullinemia Type Ii	Decreased body mass index, Mania, Delayed menarche, Lethargy	ORPHA:247585
Waardenburg Syndrome, Type 4A	Spastic paraparesis, Ataxia	OMIM:277580
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Hippocampal atrophy, Poor gross motor coordination, Seizure, Bil...	OMIM:614756
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy	OMIM:604377
Familial Thyroid Dyshormonogenesis	Lethargy	ORPHA:95716
Symptomatic Form Of Hfe-Related Hemochromatosis	Apathy, Lethargy, Weight loss	ORPHA:465508
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Generalized myoclonic seizure, Seizure, Tetraplegia, Bilateral toni...	OMIM:257300
Combined Oxidative Phosphorylation Defect Type 7	Difficulty walking, Distal sensory impairment, Inability to walk, Oral-pharyngeal dysphagia, Atax...	ORPHA:254930
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Obesity, Overweight, Lethargy	ORPHA:26793
1Q44 Microdeletion Syndrome	Short stature, Bilateral tonic-clonic seizure, Agenesis of corpus callosum, Growth delay	ORPHA:238769
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Failure to thrive, Lethargy	OMIM:201470
Mitochondrial Dna-Associated Leigh Syndrome	Hypertonia, Generalized myoclonic seizure, Chorea, Spasticity, Seizure, Infantile spasms, Bilater...	ORPHA:255210
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation	OMIM:619576
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy	OMIM:201450
Developmental And Epileptic Encephalopathy 111	Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Convulsive status epilepti...	OMIM:620504
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Cerebral atrophy, Postnatal growth retardation, Spasticity, Seizure, Bilateral tonic-clonic seizu...	OMIM:301040
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su...	ORPHA:137675
Neurofibromatosis, Familial Spinal	Paraparesis	OMIM:162210
Maple Syrup Urine Disease, Type Ia	Lethargy	OMIM:248600
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Memory impairment, Depression, Ataxia, Narcolepsy, Mental deterioration	ORPHA:314404
Bone Marrow Failure Syndrome 5	Short stature, Bilateral tonic-clonic seizure, Growth delay	OMIM:618165
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hypertonia, Inability to walk, Seizure, Spasticity, Short stature, Growth delay, Ataxia, Convulsi...	OMIM:608885
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:618316
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Global brain atrophy, Inability to walk, Truncal ataxia, Generalized-onset seizure, Cerebellar at...	OMIM:620066
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Failure to thrive, Lethargy, Growth delay	ORPHA:90674
Meningococcal Meningitis	Lethargy	ORPHA:33475
Narcolepsy 3	Narcolepsy	OMIM:609039
Peroxisome Biogenesis Disorder 5A (Zellweger)	Failure to thrive, Colpocephaly, Agenesis of corpus callosum, Lethargy, Intrauterine growth retar...	OMIM:614866
Necrotizing Enterocolitis	Small for gestational age, Lethargy	ORPHA:391673
Scrub Typhus	Lethargy	ORPHA:83317
Weaver Syndrome	Generalized non-motor (absence) seizure, Hypertonia, Poor fine motor coordination, Spasticity, Se...	OMIM:277590
Mitochondrial Trifunctional Protein Deficiency 2	Seizure, Neonatal death, Bilateral tonic-clonic seizure	OMIM:620300
Isolated Complex I Deficiency	Intrauterine growth retardation, Failure to thrive, Lethargy	ORPHA:2609
Kinsship Syndrome	Generalized non-motor (absence) seizure, Focal-onset seizure, Brain atrophy, Spastic tetraparesis...	OMIM:619297
Sim1-Related Prader-Willi-Like Syndrome	Failure to thrive, Obesity, Lethargy, Abdominal obesity	ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome	Increased body weight, Short stature, Failure to thrive, Abdominal obesity, Lethargy	ORPHA:398069
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Lethargy	OMIM:251110
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Generalized non-motor (absence) seizure, Hair-pulling, Nail-biting, Broad-based gait, Emotional l...	OMIM:620330
Dengue Fever	Lethargy	ORPHA:99828
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy	OMIM:201475
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Lethargy	OMIM:210210
Trichotillomania	Compulsive behaviors, Hair-pulling	OMIM:613229
Fabry Disease	Abnormal circulating lipid concentration, Congestive heart failure, Angina pectoris, Hypertension...	ORPHA:324
Posterior Urethral Valve	Postnatal growth retardation, Lethargy	ORPHA:93110
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Lethargy	ORPHA:746
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Lethargy	OMIM:251100
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology	ORPHA:139578
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Seizure, Tremor, Bilateral tonic-clonic seizure with focal onset, Short stature, ...	OMIM:614947
Transcobalamin Ii Deficiency	Failure to thrive, Lethargy	OMIM:275350
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lethargy, Agenesis of corpus callosum	OMIM:608836
Eisenmenger Syndrome	Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure, Suprave...	ORPHA:97214
Nivelon-Nivelon-Mabille Syndrome	Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure	OMIM:600092
Staphylococcal Necrotizing Pneumonia	Lethargy	ORPHA:36238
Interatrial Communication	Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle...	ORPHA:1478
3-Hydroxy-3-Methylglutaric Aciduria	Apathy, Lethargy, Weight loss	ORPHA:20
Fructose-1,6-Bisphosphatase Deficiency	Lethargy	OMIM:229700
Neuromuscular Oculoauditory Syndrome	Infantile spasms, Unsteady gait, Bilateral tonic-clonic seizure, Agenesis of corpus callosum	OMIM:618733
Late-Onset Isolated Acth Deficiency	Failure to thrive, Lethargy, Weight loss	ORPHA:199299
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Failure to thrive, Lethargy	OMIM:620233
W Syndrome	Spasticity, Bilateral tonic-clonic seizure	ORPHA:2804
Citrullinemia, Classic	Failure to thrive, Lethargy	OMIM:215700
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	OMIM:212138
Carnitine Palmitoyltransferase I Deficiency	Lethargy	OMIM:255120
Autosomal Dominant Progressive External Ophthalmoplegia	Bradykinesia, Depression, Bipolar affective disorder, Failure to thrive, Lethargy	ORPHA:254892
Chromosome Xp11.3 Deletion Syndrome	Short stature, Bilateral tonic-clonic seizure	OMIM:300578
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s...	OMIM:301091
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cerebral atrophy, Distal sensory impairment, Torticollis, Spasticity, Seizure, Growth delay, Atax...	OMIM:609136
Combined Oxidative Phosphorylation Deficiency 3	Seizure, Tremor, Bilateral tonic-clonic seizure, Ataxia, Intrauterine growth retardation	OMIM:610505
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Abnormal spinal cord morphology	ORPHA:99947
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology	ORPHA:494
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypertonia, Typical absence seizure, Generalized myoclonic seizure, Broad-based gait, Seizure, Bi...	ORPHA:268261
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	Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure...	ORPHA:466943
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Compulsive behaviors, Tonic seizure, Bilateral tonic-clonic seizure, Frequent temp...	OMIM:619512
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Focal-onset seizure, Inability to walk, Limb hypertonia, Spasticity, Seizure, Spastic tetraparesi...	OMIM:620371
Narcolepsy 1	Narcolepsy	OMIM:161400
Webb-Dattani Syndrome	Short stature, Spasticity, Bilateral tonic-clonic seizure	OMIM:615926
Aicardi-Goutières Syndrome	Irritability, Hypertonia, Difficulty walking, Degeneration of the striatum, Brain atrophy, Extrap...	ORPHA:51
Foix-Alajouanine Syndrome	Difficulty walking, Gait imbalance, Dysesthesia, Frequent falls, Unsteady gait, Progressive spast...	ORPHA:79093
Crimean-Congo Hemorrhagic Fever	Hematemesis, Myocarditis, Melena, Bradycardia, Capillary leak, Hypertension, Hypotension, Retinal...	ORPHA:99827
Cocaine Intoxication	Agitation, Focal-onset seizure, Seizure, Tremor, Bilateral tonic-clonic seizure, Involuntary move...	ORPHA:90068
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle branch block, Arrhythmia, Myocardial infar...	ORPHA:500
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Lethargy	OMIM:311250
Hermansky-Pudlak Syndrome 10	Cerebral atrophy, Focal myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:617050
Isolated Permanent Neonatal Diabetes Mellitus	Generalized myoclonic seizure, Apraxia, Bilateral tonic-clonic seizure, Ataxia, Intrauterine grow...	ORPHA:99885
Cirrhosis, Familial	Lethargy	OMIM:215600
Hydranencephaly	Intrauterine growth retardation, Postnatal growth retardation, Lethargy	ORPHA:2177
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	ORPHA:159
Narcolepsy 7	Narcolepsy	OMIM:614250
Mitochondrial Complex I Deficiency, Nuclear Type 1	Babinski sign, Tongue fasciculations, Spasticity, Cerebellar atrophy, Bilateral tonic-clonic seiz...	OMIM:252010
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Lethargy	OMIM:618321
Monosomy 22Q13.3	Cerebellar cortical atrophy, Hair-pulling, Impaired pain sensation, Hyperactivity, Seizure, Agene...	ORPHA:48652
Glycerol Kinase Deficiency	Small for gestational age, Lethargy, Short stature, Growth delay	OMIM:307030
Aortic Arch Interruption	Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao...	ORPHA:2299
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Small for gestational age, Failure to thrive, Lethargy	OMIM:277400
Holocarboxylase Synthetase Deficiency	Lethargy	OMIM:253270
Marbach-Rustad Progeroid Syndrome	Pulmonary insufficiency, Right bundle branch block	OMIM:619322
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Intrauterine growth retardation, Failure to thrive, Lethargy, Growth delay	ORPHA:79282
Autosomal Recessive Spastic Paraplegia Type 55	Babinski sign, Distal sensory impairment, Lower limb spasticity, Spasticity, Poor fine motor coor...	ORPHA:320375
Argininosuccinic Aciduria	Failure to thrive, Lethargy	OMIM:207900
Alobar Holoprosencephaly	Depression, Short stature, Failure to thrive, Growth delay, Agenesis of corpus callosum, Apathy, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Short stature, Failure to thrive, Growth delay, Agenesis of corpus callosum, Apathy, ...	ORPHA:93926
Lobar Holoprosencephaly	Depression, Short stature, Failure to thrive, Growth delay, Agenesis of corpus callosum, Apathy, ...	ORPHA:93924
Semilobar Holoprosencephaly	Depression, Short stature, Failure to thrive, Growth delay, Agenesis of corpus callosum, Apathy, ...	ORPHA:220386
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Growth delay, Agenesis of corpus callosum, Overweight, Lethargy	ORPHA:226307
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy	OMIM:620306
Ebola Hemorrhagic Fever	Lethargy	ORPHA:319218
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy	OMIM:608643
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Typical absence seizure, Simple febrile seizure, Bilateral tonic-clonic seizure, Dysphagia, Atten...	ORPHA:466950
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Hypertonia, Focal-onset seizure, Seizure, Infantile spasms, Spastic tetraparesis, Bilateral tonic...	OMIM:301044
Benign Schwannoma	Allodynia	ORPHA:252164
Genetic Transient Congenital Hypothyroidism	Lethargy	ORPHA:226316
Encephalitis Lethargica	Lethargy	ORPHA:83600
Hallermann-Streiff Syndrome	Hyperactivity, Choreoathetosis, Bilateral tonic-clonic seizure, Proportionate short stature	OMIM:234100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Growth delay, Bilateral tonic-clonic seizure	ORPHA:436159
Hereditary Fructose Intolerance	Growth delay, Lethargy	ORPHA:469
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Bradykinesia, Hypertonia, Difficulty walking, Truncal ataxia, Dysdiadochokinesis, Poor fine motor...	ORPHA:309854
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Failure to thrive, Lethargy	OMIM:557000
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary arterial hypertension, Mitr...	OMIM:614008
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Adrenomyeloneuropathy	Spastic gait, Babinski sign, Distal sensory impairment, Axonal degeneration, Dysesthesia, Atrophy...	ORPHA:139399
Biotinidase Deficiency	Lethargy	OMIM:253260
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy	ORPHA:90673
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure,...	ORPHA:459070
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Broad-based gait, Seizure, Bilateral tonic-clonic seizur...	ORPHA:513456
Lujo Hemorrhagic Fever	Resting tremor, Seizure, Dysphagia, Bilateral tonic-clonic seizure	ORPHA:319213
Gaucher Disease	Delayed puberty, Generalized myoclonic seizure, Oculomotor apraxia, Abnormality of extrapyramidal...	ORPHA:355
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Lethargy	ORPHA:415
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Generalized myoclonic seizure, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure...	OMIM:614231
Ogden Syndrome	Cerebral atrophy, Irritability, Hypertonia, Postnatal growth retardation, Torticollis, Generalize...	OMIM:300855
Cholera	Lethargy	ORPHA:173
Medulloblastoma	Lethargy	ORPHA:616
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Global brain atrophy, Cer...	ORPHA:369837
X Small Rings	Growth delay, Seizure, Bilateral tonic-clonic seizure	ORPHA:96201
Trichinellosis	Apathy, Lethargy	ORPHA:863
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Cerebral atrophy, Broad-based gait, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Myoclon...	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
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Multiple Mitochondrial Dysfunctions Syndrome 7	Lethargy	OMIM:620423
Amoebiasis Due To Free-Living Amoebae	Abnormal hypothalamus morphology, Lethargy	ORPHA:68
D-Bifunctional Protein Deficiency	Seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure, Corpus callosum atrophy	OMIM:261515
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Right bundle branch block, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Pulmonic stenosi...	OMIM:617506
Leopard Syndrome 1	Pulmonic stenosis, Bundle branch block, Third degree atrioventricular block, Hypertrophic cardiom...	OMIM:151100
Diamond-Blackfan Anemia	Small for gestational age, Lethargy, Short stature, Growth delay	ORPHA:124
Oliver Syndrome	Intrauterine growth retardation, Bilateral tonic-clonic seizure	ORPHA:2920
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Delayed puberty, Spastic paraparesis, Short stature, Growth delay	OMIM:619234
Niemann-Pick Disease Type C	Dementia, Depression, Low frustration tolerance, Gait disturbance, Cognitive impairment, Ataxia, ...	ORPHA:646
Glycine Encephalopathy	Lethargy	ORPHA:407
Oculodentodigital Dysplasia	Seizure, Spasticity, Gait disturbance, Ataxia, Spastic paraparesis	ORPHA:2710
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Cerebral cortical atrophy, Difficulty walking, Bilateral tonic-clonic seizure, Gait ataxia	ORPHA:457359
Pseudoleprechaunism Syndrome, Patterson Type	Atonic seizure, Bilateral tonic-clonic seizure	ORPHA:2976
Hurler Syndrome	Depression, Cerebral palsy, Short stature, Growth delay, Abnormal pyramidal sign, Spastic parapar...	ORPHA:93473
Vici Syndrome	Abnormal posturing, Gray matter heterotopia	OMIM:242840
Epidermal Nevus Syndrome	Babinski sign, Hypertonia, Atrophy of the spinal cord, Progressive spastic paraparesis	ORPHA:35125
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Lethargy	OMIM:218700
Kufor-Rakeb Syndrome	Bradykinesia, Apathy, Lethargy	ORPHA:306674
Fructose Intolerance, Hereditary	Failure to thrive, Lethargy	OMIM:229600
Scheie Syndrome	Spastic paraparesis, Cerebral palsy	ORPHA:93474
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Prolonged QT interval, Bundle branch block	ORPHA:373
Lysinuric Protein Intolerance	Failure to thrive, Lethargy	ORPHA:470
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Allodynia	OMIM:603041
Unilateral Polymicrogyria	Abnormal posturing, Perisylvian polymicrogyria	ORPHA:268943
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Multiple Endocrine Neoplasia Type 1	Depression, Lethargy, Weight loss	ORPHA:652
Cornelia De Lange Syndrome 6	Intrauterine growth retardation, Compulsive behaviors, Hair-pulling	OMIM:620568
Eales Disease	Spastic paraparesis	ORPHA:40923
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Epileptic spasm, Inability to walk, Broad-based gait, Seizure, Exaggerated startle response, Invo...	ORPHA:438213
Holoprosencephaly 14	Cerebellar atrophy, Partial agenesis of the corpus callosum, Bilateral tonic-clonic seizure	OMIM:619895
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology	ORPHA:88628
Hartsfield Syndrome	Growth delay, Bilateral tonic-clonic seizure, Agenesis of corpus callosum	OMIM:615465
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy	OMIM:617403
Pineoblastoma	Lethargy	ORPHA:251909
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Generalized non-motor (absence) seizure, Seizure, Tremor, Bilateral tonic-clonic seizure, Motor s...	OMIM:612474
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Myelitis	ORPHA:83597
Marburg Hemorrhagic Fever	Lethargy	ORPHA:99826
X-Linked Cerebral Adrenoleukodystrophy	Abnormal spinal cord morphology, Myelopathy	ORPHA:139396
Say-Barber-Miller Syndrome	Babinski sign, Short stature, Lower limb hypertonia, Ankle clonus, Spastic paraparesis	ORPHA:3132
Exercise-Induced Malignant Hyperthermia	Lethargy	ORPHA:466650
Cutis Laxa, Autosomal Recessive, Type Iic	Right bundle branch block, Aortic regurgitation, Tricuspid regurgitation	OMIM:617402
Orofaciodigital Syndrome Type 2	Short stature, Bilateral tonic-clonic seizure	ORPHA:2751
Sotos Syndrome	Cerebral atrophy, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure...	ORPHA:821
African Trypanosomiasis	Irritability, Akinesia, Difficulty walking, Gait disturbance, Delirium, Narcolepsy, Choreoathetosis	ORPHA:3385
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Depression, Narcolepsy, Emotional lability	ORPHA:293987
Kabuki Syndrome 1	Postnatal growth retardation, Seizure, Bilateral tonic-clonic seizure with focal onset, Short sta...	OMIM:147920
Doors Syndrome	Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:79500
Superficial Siderosis	Abnormal spinal cord morphology, Atrophy of the spinal cord	ORPHA:247245
Paroxysmal Nocturnal Hemoglobinuria	Lethargy	ORPHA:447
Microphthalmia, Syndromic 2	Seizure, Spastic paraparesis, Short stature	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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