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Gene: Bckdk MGI:1276121

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
branched chain ketoacid dehydrogenase kinase
Synonyms:
BCKD-kinase

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Bckdk mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency
Seizure OMIM:614923

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Focal-onset seizure, Difficulty walking, Inability to walk, Oculog... ORPHA:330050
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:615006
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity, Inability to walk OMIM:606053
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
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
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Bilateral tonic-clonic seizure, Tonic seizure, Left ventricular hypertro... OMIM:620145
Tyrosinemia Type 2
Ataxia, Abnormality of amino acid metabolism ORPHA:28378
Chromosome 15Q11-Q13 Duplication Syndrome
Truncal ataxia, Impaired ability to form peer relationships, Unsteady gait, Reduced social recipr... OMIM:608636
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
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Bilateral tonic-clonic seizure, Tonic sei... OMIM:616346
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Dysto... OMIM:617389
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure, Dystonia, Splenomegaly, Myoclonus ORPHA:139406
Yoon-Bellen Neurodevelopmental Syndrome
Hypomimic face, Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Failure to t... OMIM:619701
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Bilateral tonic-clonic seizure, Short stature, Increased variability in muscle fiber diameter, Dy... OMIM:619065
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Focal motor seizure, Tremor, S... ORPHA:599373
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Tremor... OMIM:614018
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Dystonia, Status epilept... OMIM:618924
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Inability to walk, Bilateral tonic-clonic seizure OMIM:619639
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Bilateral tonic-clonic seizure, Action myoclonus, Gait distur... OMIM:616230
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclon... OMIM:608105
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Truncal ataxia, Absence seizure with eyelid myoclonia, Tremor, Bilateral tonic-clonic seizure, Ga... OMIM:618587
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Difficulty walking, Truncal ataxia, Dysdiadochokinesis, Gait disturbance, Decreased... ORPHA:309854
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Difficulty walking, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Gait ataxia, Gen... OMIM:616540
Developmental And Epileptic Encephalopathy 59
Inability to walk, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Focal... OMIM:617904
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... OMIM:619970
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic ... OMIM:617106
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Short stature, Hand tremor OMIM:617862
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo... OMIM:615400
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Focal-onset seizure, Seizure, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:162350
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Synophrys, Ataxia, Unsteady gait OMIM:620317
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Gait imbalance, Seizure, Bilateral tonic-clonic seizure, Ataxia, U... OMIM:301020
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:616409
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Athetosis, Bilateral toni... OMIM:618141
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Failure to thrive, Intrauterine growth retardation, Status epilep... OMIM:617082
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Tremor, Bilateral tonic-clonic seizure, Dystonia, Ataxia OMIM:618425
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Tremor, Tonic seizure, Bilateral tonic-clonic s... OMIM:618090
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Inability to walk,... OMIM:619317
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure OMIM:601068
Foxg1 Syndrome
Focal-onset seizure, Difficulty walking, Inability to walk, Severe postnatal growth retardation, ... ORPHA:561854
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Tonic seizure, Sho... OMIM:617711
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Highly arched eyebrow, Seizure... OMIM:617976
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diffic... ORPHA:369840
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Seizure, Bilatera... OMIM:619157
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Dy... OMIM:616139
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Dysdiadochokinesis, Bilateral tonic-clonic seizure, Intentio... OMIM:620453
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Inability to walk, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myocl... OMIM:618497
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia... OMIM:607682
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Status epilepticus withou... OMIM:204300
Oxoglutarate Dehydrogenase Deficiency
Falls, Bilateral tonic-clonic seizure, Gait ataxia, Generalized amyotrophy, Dystonia, Unsteady ga... OMIM:203740
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Falls, Bilateral tonic-clonic seizure, Atypic... ORPHA:2382
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Failure to thrive, Dystonia, Flexion contracture, Intrauterine gr... OMIM:618237
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Trem... ORPHA:36387
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Spastic gait, Focal-onset seizure, Seizure, Infantile sp... OMIM:620540
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic status epilepticus, Truncal ataxia, Bilateral tonic-clon... OMIM:611726
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Failure to thrive, Myoclonus, Status epilepticus, Choreoathetosis OMIM:609056
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Abnormality of amino acid metabolism ORPHA:220295
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Steppage gait, Focal myoclon... ORPHA:98818
Cerebral Creatine Deficiency Syndrome 2
Seizure, Tremor, Bilateral tonic-clonic seizure, Decreased serum creatinine, Febrile seizure (wit... OMIM:612736
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Focal myoclonic seizure, Urinary incontinence, Difficulty walking,... ORPHA:464282
Developmental And Epileptic Encephalopathy 34
Focal-onset seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:616645
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At... OMIM:617113
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Bilateral tonic-clonic seizure, Gait ataxia, Growth delay, Ataxia OMIM:614322
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Lissencephaly 10
Generalized non-motor (absence) seizure, Torticollis, Generalized-onset seizure, Bilateral tonic-... OMIM:618873
Autosomal Dominant Spastic Paraplegia Type 6
Urinary incontinence, Gait disturbance, Bilateral tonic-clonic seizure, Skeletal muscle atrophy, ... ORPHA:100988
Alternating Hemiplegia Of Childhood 1
Dystonia, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:104290
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Hypomimic face, Falls, Seizure, Bilateral tonic-clonic seizure, Gait disturbance, Action tremor, ... OMIM:300423
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Syn... OMIM:619428
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, Dystonia, At... OMIM:618093
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-clonic seizure,... OMIM:617836
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Inability to walk, Bilateral tonic-clonic seizure, Gait disturbance, Action tremo... ORPHA:93952
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Congenital muscular torticollis, Seizure, Myoclonic absence seizure, Bilateral tonic... OMIM:612621
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Inability to walk, Tremor, Bilateral tonic-clonic seizur... OMIM:617810
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Seizure, Athetosis, Bilateral tonic-clonic seizure, Atonic seizure... ORPHA:382
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Elevated urinary 4-hydrox... OMIM:271980
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Gait disturbance, Myoclonus, Choreoathetosis... OMIM:616981
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Oc... ORPHA:208447
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Hepatomegaly, Inability to walk, Focal emotional seizure with laug... OMIM:619881
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Hypomimic face, Spastic gait, Bilateral tonic-clonic seizure, Gait ataxia, Short stature, Low ant... OMIM:615031
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Bilateral tonic-clonic seizure, Synophrys, Long eyelashes, Tonic seizure, Atoni... OMIM:615859
Isolated Focal Cortical Dysplasia
Epileptic spasm, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Generalized-... ORPHA:65683
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Elevated circulating hepatic transaminase ... OMIM:619902
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:619191
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal o... OMIM:612691
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Inability to walk, Focal emotional seizure with laughing, Bilateral tonic-clonic... ORPHA:293181
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia, Choreoathetosis, Abnormal urinary acylglycine... ORPHA:391417
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Episodic Ataxia, Type 5
Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica... OMIM:613855
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Athetosis, Decreased body weight, Bilateral tonic-clonic seizure, Failure to... OMIM:614559
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Lissencephaly 3
Seizure, Ataxia, Generalized tonic seizure, Bilateral tonic-clonic seizure OMIM:611603
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Cyanosis, Bilateral tonic-clonic seizure, Bilateral tonic-cloni... OMIM:607745
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Inability to walk, Bilateral tonic-clonic seizure, Broad-based gait OMIM:618470
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera... ORPHA:101046
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Dystonia OMIM:619301
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical abs... OMIM:617350
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Distal amyotrophy, Dysdiadochokinesis, Myoclonus, Bilateral tonic-... OMIM:614487
Severe Canavan Disease
Seizure, Elevated urine N-acetylaspartic acid level, Inability to walk, Bilateral tonic-clonic se... ORPHA:314911
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se... ORPHA:98820
Sulfite Oxidase Deficiency, Isolated
Decreased urinary sulfate, Increased urinary sulfite level, Bilateral tonic-clonic seizure, Ataxi... OMIM:272300
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Dystonia OMIM:619302
Sarcosinemia
Peroneal muscle weakness, Hypersarcosinuria, Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Seizure, Bilateral tonic-clonic seizure, Gait ataxia, Growth delay, Intrauterine ... ORPHA:488635
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Myoclonic status epilepticus, Inability to walk, Focal tonic seizure, Bilateral ... OMIM:617105
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Bilatera... OMIM:619616
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, Gait ataxi... OMIM:618917
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Seizure, Bilateral tonic-clonic seizure with focal onset, Intention tremor, Splenom... OMIM:610539
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B... OMIM:618067
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:616341
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilateral tonic-clonic sei... ORPHA:158
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Photosensitive myoclonic seizure, Progressive cerebellar ataxia, Bilater... ORPHA:263516
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation OMIM:615596
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic trans... ORPHA:42
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Bilateral tonic-clonic seizure, Decreased muscle glycogen content OMIM:611556
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Focal motor seizure, Bilateral tonic-clonic seizure, Failure to thrive, Generalized... OMIM:618235
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Focal-onset seizure, Bilateral tonic-clonic seizure, Short stature, Febrile seiz... ORPHA:289266
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Thick eyebrow, Bilateral tonic-clonic seizure OMIM:619000
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Enamel hyp... OMIM:226750
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Loss of ambulation, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Inguinal hernia, Seizure,... ORPHA:485350
Developmental And Epileptic Encephalopathy 93
Focal-onset seizure, Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Tonic s... OMIM:618012
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria, Bilateral tonic-clonic seizure OMIM:249650
Developmental And Epileptic Encephalopathy 106
Postnatal growth retardation, Limb hypertonia, Infantile spasms, Tonic seizure, Bilateral tonic-c... OMIM:620028
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset OMIM:117100
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Distal amyotrophy, Dysdiadochokinesis, Abnormal mitochondria in mu... ORPHA:313772
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat... ORPHA:101071
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Infantile spasms, Seizure, Abnormal medullary pyramid morphology, Bilateral to... ORPHA:79243
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Focal-onset seizure, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizur... OMIM:617166
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Foot joint contracture, Bilateral tonic-clonic seizure, Dystonia, Skeletal mus... ORPHA:457205
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Bilateral tonic-clonic seizure with fo... ORPHA:254881
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:620461
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Resting tremor, Focal motor seizure, Seizure, Freezing of gait, Bilateral tonic-clonic ... OMIM:619911
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Elevated circulating hepatic transaminase co... OMIM:608836
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
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:604317
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Ankle flexion contracture, Gait imbalance, Bilateral tonic-clonic se... OMIM:618120
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Failure to thri... OMIM:616281
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Clonic seizure, Foca... OMIM:617935
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Flexion contracture, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618856
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Hepatomegaly, Generalized-onset seizure, Bilateral tonic... OMIM:615637
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Rasmussen Subacute Encephalitis
Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure... ORPHA:1929
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Focal clonic se... ORPHA:140927
Seizures, Benign Familial Infantile, 1
Cyanosis, Focal-onset seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with foc... OMIM:601764
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity, Bilateral tonic-clonic seizure OMIM:240900
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Bilateral tonic-cloni... OMIM:619913
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure OMIM:620200
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Inguinal hernia, Seizure, Bilateral tonic-clonic seizure, Dystonia, Status epilepticus, Focal imp... OMIM:613970
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Peho-Like Syndrome
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus OMIM:617507
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Episodic ataxia, Bilateral tonic-clonic seizure, Choreoathetosis ORPHA:53583
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Scapular winging, Camptodactyly, Bilateral ... OMIM:617468
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Gait disturbance, Bilateral tonic-clonic seizure, Short stature, Overweight, Mic... ORPHA:457240
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Seizure, Tremor, Bilateral tonic-clonic seizure, Gait ataxia, Status epilepti... ORPHA:529665
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Choreoathetosis ORPHA:726
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Galactose Epimerase Deficiency
Impairment of galactose metabolism, Aminoaciduria ORPHA:79238
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
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Dystonia, Focal-onset seizure, Inability to walk OMIM:618760
Familial Infantile Myoclonic Epilepsy
Generalized myoclonic seizure, Simple febrile seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:352582
Neurodevelopmental Disorder With Involuntary Movements
Infantile spasms, Athetosis, Bilateral tonic-clonic seizure, Dystonia, Focal impaired awareness s... OMIM:617493
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Inability to walk, Limb hypertonia, Seizure, Bilateral tonic-clonic seizure, Growth delay, Failur... ORPHA:488613
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Cholestasis, Nephr... ORPHA:85445
Jaberi-Elahi Syndrome
Inability to walk, Brittle hair, Broad-based gait, Tremor, Bilateral tonic-clonic seizure, Gait a... OMIM:617988
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma OMIM:618272
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Inability to walk, Hirsutism, Lo... OMIM:617303
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Clonic seizure OMIM:617290
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Urinary incontinence, Bilateral tonic-clonic seizure ORPHA:329329
Severe Neonatal-Onset Encephalopathy With Microcephaly
Growth delay, Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Impotence, Bilateral tonic-clonic seizure, Exaggerated startl... OMIM:268800
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Intention tremo... OMIM:618170
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
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
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Abnormality of amino acid metabolism ORPHA:394
Brain Small Vessel Disease 2
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Abnormal dental enamel morphology, Seizure, Short stature, Obes... ORPHA:251004
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized myoclonic seizure, Generalized tonic seizure, Tremor, Bilateral toni... OMIM:612164
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
D-Glyceric Aciduria
Focal clonic seizure, Seizure, Bilateral tonic-clonic seizure, Growth delay, Failure to thrive, O... OMIM:220120
Dk1-Cdg
Focal-onset seizure, Elevated circulating hepatic transaminase concentration, Seizure, Infantile ... ORPHA:91131
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Limb hypertonia, Bilateral tonic-clonic seizure, Fetal pyelectasis, Focal im... OMIM:301058
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Inguinal... ORPHA:79351
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
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
Late Infantile Neuronal Ceroid Lipofuscinosis
Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Inability to walk, C... ORPHA:168491
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, 3-Methylglutaconic aciduria, Hypospadias, Microvesicular hepatic st... OMIM:610198
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Growth delay, Myoclonic seizure OMIM:615716
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thick hair, Facial hypotonia, Bilateral tonic-clonic seizure, Intention tremor, Horizontal eyebro... OMIM:618381
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:620292
Alfadhel Syndrome
Highly arched eyebrow, Seizure, Bilateral tonic-clonic seizure, Short stature, Horseshoe kidney OMIM:620655
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Cyanosis, Inability to walk, Limb hypertonia, Bilateral tonic-clonic seizure, To... OMIM:619580
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Coenzyme Q10 Deficiency, Primary, 3
Decreased level of coenzyme Q10 in skeletal muscle, Bilateral tonic-clonic seizure with focal ons... OMIM:614652
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Elevated circulating h... OMIM:276700
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Myopathy, Bilateral tonic-clonic seizure, Left ventricular hypertrophy OMIM:540000
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Seizure, Loss of ambulation, Focal clonic seizure OMIM:617933
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Obesity, Focal ... OMIM:619854
Intellectual Developmental Disorder, Autosomal Dominant 42
Focal-onset seizure, Limb dystonia, Myoclonic seizure, Atonic seizure, Myoclonus, Lower limb musc... OMIM:616973
H Syndrome
Delayed puberty, Abnormality of the kidney, Enlarged kidney, Azoospermia, Camptodactyly, Short st... ORPHA:168569
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Warburg Micro Syndrome 3
Postnatal growth retardation, Inability to walk, Bilateral tonic-clonic seizure, Myoclonic seizur... OMIM:614222
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Focal myoclonic seizure, Difficulty walking, Broad eyebrow, Limb hypertonia, Inability to walk, S... ORPHA:481152
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
X-Linked Intellectual Disability Due To Gria3 Mutations
Abnormality of muscle size, Facial hypotonia, Seizure, Bilateral tonic-clonic seizure, Short stat... ORPHA:364028
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Nocturnal seizures, Resting tremor, Bilateral tonic-clonic seizure, Intention tremor, Dystonia, A... OMIM:619725
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Bilateral tonic-clonic seizure with g... ORPHA:98795
Developmental And Epileptic Encephalopathy 95
Focal-onset seizure, Hepatomegaly, Multiple joint contractures, Inguinal hernia, Inability to wal... OMIM:618143
Renal Dysplasia
Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary inco... ORPHA:93108
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure, Lower limb hypertonia, Failure to thrive, Foot dorsiflex... OMIM:169400
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Glycogen Storage Disease Ia
Delayed puberty, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concent... OMIM:232200
Sandhoff Disease, Infantile Form
Seizure, Bilateral tonic-clonic seizure, Exaggerated startle response, Myoclonic seizure, Hepatos... ORPHA:309155
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Acute rhabdomyolysis, Hypoglycemic seizures, Generalized myoclonic seizure, Elevated circulating ... ORPHA:480864
Unilateral Focal Polymicrogyria
Simple febrile seizure, Urinary incontinence, Focal motor seizure, Seizure, Bilateral tonic-cloni... ORPHA:268947
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Homo... ORPHA:395
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Inability to walk, Bilateral tonic-clonic seizure OMIM:619877
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Short stature OMIM:300558
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Inguinal hernia, Nephroblastomatosis, Nephrogenic res... OMIM:608022
Intellectual Developmental Disorder, Autosomal Dominant 74
Intrauterine growth retardation, Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Nephrolithiasis, Bilateral tonic-clonic seizure OMIM:619827
Canavan Disease
Epileptic spasm, Elevated urine N-acetylaspartic acid level, Opisthotonus, Bilateral tonic-clonic... OMIM:271900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Bilater... OMIM:201475
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Inab... ORPHA:501
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Seizure... ORPHA:1934
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Bilateral tonic-clonic seizure, Failure to thrive, Dystonia, Op... OMIM:616672
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Alopecia of scalp, Gait disturbance, Bilateral tonic-clonic seizure ORPHA:199354
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Rhizomelia, Torticollis, Periportal fibrosis, Hypoplasia of the mu... ORPHA:79328
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Inguinal hernia, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Failure to thrive, Fl... ORPHA:544503
D-2-Hydroxyglutaric Aciduria 1
Glutaric aciduria, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoc... OMIM:600721
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Urinary incontinence, Inability to walk, Seizure, Bilateral tonic-clonic seizure... OMIM:617193
Mucolipidosis Ii Alpha/Beta
Tip-toe gait, Enlarged kidney, Hepatomegaly, Inguinal hernia, Brittle hair, Severe postnatal grow... OMIM:252500
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Myoclonus OMIM:607876
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Abnormality of connective tissue, Hypoxemia, Failure to thrive, We... ORPHA:79128
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Postnatal growth retardation, Generalized myoclonic seiz... OMIM:300912
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Large for gestational age, Hydroureter, Hypercalciuria, ... OMIM:615398
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Growth delay, Febrile sei... OMIM:618010
Developmental And Epileptic Encephalopathy 8
Focal impaired awareness seizure, Tonic seizure, Bilateral tonic-clonic seizure, Exaggerated star... OMIM:300607
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Enlarged kidney, Hepatomegaly, Hepatocellular adenoma, Pa... ORPHA:79259
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Decreased glomerular filtration rate, Gait imbalance, Seizure, Gait disturban... ORPHA:488627
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Broad eyebrow, Limb hyper... ORPHA:457351
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Synophrys, Long eyelashes, Tonic seizure, Myoclonic seizure, Foca... OMIM:619983
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Renal tubular dysfunction, Lower-limb joint contracture, Pancreati... ORPHA:99885
Migraine, Familial Hemiplegic, 2
Focal motor seizure, Tremor, Episodic ataxia, Bilateral tonic-clonic seizure, Gait ataxia, Dysmetria OMIM:602481
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Athetosis, Bilateral tonic-clonic seizure, Curly hair, Short stature, Ataxia... OMIM:619435
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Highly arched eyebrow, Seizure, Low posterior hairline, ... OMIM:615802
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Loss of ambulation, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:79264
Mitochondrial Dna-Associated Leigh Syndrome
Abnormal renal tubule morphology, Generalized myoclonic seizure, Hepatomegaly, Multiple glomerula... ORPHA:255210
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Slend... OMIM:617600
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Bilateral tonic-clonic seizure, Synophrys, Curly hair, Coarse hair OMIM:616351
Melas
Focal-onset seizure, Ragged-red muscle fibers, Seizure, Proximal tubulopathy, Recurrent pancreati... ORPHA:550
Neuromuscular Oculoauditory Syndrome
Calf muscle hypertrophy, Infantile spasms, EMG: myopathic abnormalities, Muscle fiber necrosis, W... OMIM:618733
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Mesenteric cyst, Hypospadias, Highly arched eyebrow, Bilateral tonic-clonic ... OMIM:618316
Aspartylglucosaminuria
Aspartylglucosaminuria, Abnormality of amino acid metabolism ORPHA:93
Rolandic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Atypical absence seizure, F... ORPHA:1945
Developmental And Epileptic Encephalopathy 111
Focal-onset seizure, Inguinal hernia, Infantile spasms, Nephrolithiasis, Bilateral tonic-clonic s... OMIM:620504
Hyperekplexia 3
Hiatus hernia, Bilateral tonic-clonic seizure, Exaggerated startle response, Myoclonus OMIM:614618
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinin... ORPHA:449395
Lissencephaly 9 With Complex Brainstem Malformation
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Short stature, Myoclonic seizure, Foca... OMIM:618325
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Urinary incontinence, Neurogenic bladder, Hirsutism, Bilateral tonic-clonic seizure, Growth delay... ORPHA:496641
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Limb hypertonia, Bilateral tonic-clonic seizure, Sparse eyelashes, Short st... OMIM:620070
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Inguinal hernia, Bilateral tonic-cl... OMIM:618354
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concent... OMIM:232220
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Highly arched eyebrow, Generalized-... OMIM:615476
Combined Oxidative Phosphorylation Deficiency 58
Epilepsia partialis continua, Difficulty walking, Ragged-red muscle fibers, Bilateral tonic-cloni... OMIM:620451
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Bilateral tonic-clonic seizure ORPHA:275864
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Inability to walk, Thick hair, Heavy proteinuria, Long eyelashes, Nephrotic synd... ORPHA:505248
Leprechaunism
Postnatal growth retardation, Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Decrease... ORPHA:508
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Limb hypertonia, Increased urinary taurine, Generalized-onset seiz... OMIM:615501
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
Bone Marrow Failure Syndrome 5
Nail dystrophy, Bilateral tonic-clonic seizure, Short stature, Growth delay, Hypogonadism, Testic... OMIM:618165
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Generalized myoclonic seizure, Hypospadias, Multicystic kidney dysp... OMIM:257300
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Seizure, Increased urinary taurine, Decreased urinary urate, Bilateral tonic-clonic ... OMIM:252160
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b... ORPHA:731
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Focal myoclonic seizure, Seizure, Athetosis, Nephrolithiasis, Bilateral tonic-clonic seizure, Foc... ORPHA:369929
Glass Syndrome
Inguinal hernia, Facial hypotonia, Broad-based gait, Seizure, Camptodactyly, Long eyelashes, Bila... OMIM:612313
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Bilateral camptodacty... OMIM:619777
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Hepatomegaly, Bilateral tonic-clonic seizure, Dystonia, Splenomegaly, Al... OMIM:617050
Bilateral Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Abnormality of masticatory muscle, Cerebellar... ORPHA:268940
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Limb hypertonia, Bilateral tonic-clonic seizure, Short stature, Prolong... ORPHA:423479
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Growth delay, Febrile se... OMIM:617798
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Hirsutism, Enlarged polycystic ovaries ORPHA:90301
Intellectual Developmental Disorder, Autosomal Dominant 54
Inability to walk, Seizure, Urinary retention, Bilateral tonic-clonic seizure, Short stature, Gro... OMIM:617799
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Focal aware motor seizure, Refractory status epileptic... ORPHA:363558
Fatty Acid Hydroxylase-Associated Neurodegeneration
Focal-onset seizure, Falls, Bilateral tonic-clonic seizure, Loss of ambulation, Progressive gait ... ORPHA:329308
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Hypospadias, Bilateral tonic-clonic seizure ORPHA:79350
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Seizure, Tremor, Bilateral tonic-clonic seizure, Rhabdomyolysis, Dystonia, Ataxia, ... OMIM:610505
Hyperphosphatasia-Intellectual Disability Syndrome
Highly arched eyebrow, Seizure, Bilateral tonic-clonic seizure, Gait disturbance, Growth delay, H... ORPHA:247262
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Inability to walk, Seizure, Bilateral tonic-clonic seizu... OMIM:614207
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Long eyelashes, Bilateral tonic-clonic seizure, Tonic seizure, Myoc... OMIM:617281
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Seizure, Cholestasis, Bila... OMIM:261515
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Omphalocele, Hepatic fibrosis, Pancreatic fi... OMIM:200995
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Hypospadias, Ragged-red muscle fibers, Bilateral tonic-clonic seizure, Hepatic fail... OMIM:252010
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Urinary incontinence, Nocturnal seizures, Paroxysmal dystonia, Bilate... ORPHA:98784
Ogden Syndrome
Postnatal growth retardation, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Tortic... OMIM:300855
1Q44 Microdeletion Syndrome
Vesicoureteral reflux, Bilateral tonic-clonic seizure, Synophrys, Short stature, Growth delay, Ho... ORPHA:238769
Lamb-Shaffer Syndrome
Ataxia, Abnormal social behavior ORPHA:530983
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Supernumerary nipple, Bilateral tonic-clonic seizure, Synophrys OMIM:616083
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Gait ataxia, Myoclonic seizure, Sparse hair, Umbilical hernia, Fine hair, ... OMIM:280000
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria, Bilateral tonic-clonic seizure, Limb hypertonia ORPHA:99742
Biotinidase Deficiency
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Organic aciduria, ... ORPHA:79241
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency
Seizure OMIM:614923
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Nephrolithiasis, Bilateral tonic-clonic seizure, Myoclonic seizure, Left ventricular h... OMIM:615474
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Rhabdomyosarcoma, Ureteral duplication, Enlarged kidney, Splenom... ORPHA:116
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Focal-onset seizure, Unilateral renal agenesis, Generalized-onset seizure, Tonic... OMIM:620024
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Chronic hepatic ... ORPHA:79124
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... ORPHA:435638
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Bilateral tonic-clonic seizure, Eunuchoid habitus, Febrile seizure (within the ag... ORPHA:3044
Argininemia
Spastic gait, Postnatal growth retardation, Hepatomegaly, Portal fibrosis, Oroticaciduria, Seizur... OMIM:207800
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal spleen morphology, Hepatosplenomegaly, Splenomegaly, Multiple renal cys... ORPHA:464329
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cyanosis, Seizure, Ascites, Cardiomegaly, Macroglossia, Myopathy OMIM:261740
3-Methylglutaconic Aciduria, Type Viia
3-Methylglutaconic aciduria, Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical ... OMIM:619835
Galactose Mutarotase Deficiency
Impairment of galactose metabolism ORPHA:570422
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:171680
Slc35A2-Cdg
Decreased galactosylation of N-linked protein glycosylation, Abnormal glycosylation, Decreased si... ORPHA:356961
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Diastasis recti, Neph... OMIM:130650
Alternating Hemiplegia Of Childhood
Facial hypotonia, Focal motor seizure, Tremor, Seizure, Bilateral tonic-clonic seizure, Failure t... ORPHA:2131
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure ORPHA:453510
Childhood Absence Epilepsy
Typical absence seizure, Urinary incontinence, Myoclonic absence seizure, Bilateral tonic-clonic ... ORPHA:64280
Japanese Encephalitis
Pill-rolling tremor, Distal lower limb muscle weakness, Focal motor seizure, Elbow flexion contra... ORPHA:79139
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Focal-onset seizure, Pancreatitis, Inability to walk, Limb hypertonia, Splenic cyst, Highly arche... OMIM:620371
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Webb-Dattani Syndrome
Hyposthenuria, Neurogenic bladder, Vesicoureteral reflux, Bilateral tonic-clonic seizure, Short s... OMIM:615926
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, High anterior hairline, Enlarged kidney, Recurrent urinary tract infecti... OMIM:615873
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Nephropathy, Focal segmental glomerulosclerosis... OMIM:194080
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Atonic seizure, Ataxia, Intrauterine growth retardation, Dilatation of the renal pelvis, Hypospad... ORPHA:268261
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Progressive gait ataxia, Abnormal social behavior, Gait ataxia ORPHA:309256
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Hypospadias, Seizure, Bilateral tonic-clonic seizure, Renal agenesi... OMIM:301040
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized myoclonic seizure, Jaundice, Elevated circulating hepatic transaminase concentration,... OMIM:614231
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Syn... OMIM:619297
Mitochondrial Trifunctional Protein Deficiency 2
Recurrent myoglobinuria, Myoglobinuria, Seizure, Bilateral tonic-clonic seizure, Elevated circula... OMIM:620300
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Growth delay, Hepatomegaly, Splenomegaly, Bilateral tonic-clonic seizure ORPHA:436159
X Small Rings
Premature ovarian insufficiency, Seizure, Bilateral tonic-clonic seizure, Low posterior hairline,... ORPHA:96201
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Obes... ORPHA:163681
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Omphalocel... OMIM:306955
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Inability to walk, Seizure, Short stature, Growth delay, Ataxia, Splenome... OMIM:608885
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Weaver Syndrome
Generalized non-motor (absence) seizure, Inguinal hernia, Seizure, Diastasis recti, Camptodactyly... OMIM:277590
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Abnormal social behavior ORPHA:1020
Choreoacanthocytosis
Oromandibular dystonia, Hepatomegaly, Falls, Resting tremor, Distal amyotrophy, Seizure, Lingual ... ORPHA:2388
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Inguinal hernia, Splenic cyst, Umbilical hernia OMIM:618188
Congenital Disorder Of Glycosylation, Type Iio
Abnormal glycosylation OMIM:616828
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Seizure, Tremor, Bilateral tonic-clonic seizure with focal onset, Short stature,... OMIM:614947
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Pitt-Hopkins-Like Syndrome 1
Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, ... OMIM:610042
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Short stature, Renal dysplasia, Micropenis OMIM:613091
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Delayed puberty, Focal-onset seizure, Hypospadias, Inguinal hernia, Lipoma, Lower-limb joint cont... ORPHA:459070
W Syndrome
Bilateral tonic-clonic seizure, Abnormality of the scalp hair, Camptodactyly ORPHA:2804
Morgagni-Stewart-Morel Syndrome
Abnormal metabolism ORPHA:77296
Hallermann-Streiff Syndrome
Sparse scalp hair, Bilateral tonic-clonic seizure, Proportionate short stature, Sparse eyelashes,... OMIM:234100
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Simple febrile seizure, Typical absence seizure, Pelvic kidney, Dilatation of renal calices, Hirs... ORPHA:466950
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Congenital megaureter, Hy... ORPHA:369837
Cocaine Intoxication
Acute kidney injury, Focal-onset seizure, Hematuria, Seizure, Tremor, Bilateral tonic-clonic seiz... ORPHA:90068
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Falls, Seizure, Dystonia, Hypercapnia OMIM:618222
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Resting tremor, Seizure, Fulminant hepat... ORPHA:319213
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Seizure, Hirsutism... OMIM:620455
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Synophr... OMIM:301091
Oculopharyngodistal Myopathy 1
Difficulty walking, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, EMG: m... OMIM:164310
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Large for gestational age, Enlarged kidney, Inguinal hernia, Camptodactyly, Bifid ureter, Nephrob... ORPHA:500095
Oliver Syndrome
Elbow flexion contracture, Bilateral tonic-clonic seizure, Camptodactyly of finger, Thick eyebrow... ORPHA:2920
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure OMIM:600092
Gaucher Disease
Delayed puberty, Generalized myoclonic seizure, Hepatomegaly, Hematuria, Cirrhosis, Cholelithiasi... ORPHA:355
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Myoclonus, Cyanosis OMIM:618426
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Lipoatrophy, Enlarged kidney, Multiple lipomas ORPHA:276280
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
High anterior hairline, Bilateral tonic-clonic seizure, Synophrys, Tonic seizure, Failure to thri... OMIM:619512
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Broad-based gait OMIM:616457
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Inability to walk, Truncal ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Ato... OMIM:620066
Chromosome Xp11.3 Deletion Syndrome
Short stature, Bilateral tonic-clonic seizure OMIM:300578
Meacham Syndrome
Enlarged kidney, Accessory spleen, Aplasia of the left hemidiaphragm, Aplasia of the right hemidi... OMIM:608978
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Generalized non-motor (absence) seizure, Pelvic kidney, Seizure, Dilatation of renal calices, Bil... ORPHA:466943
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Seizure, Bilateral tonic-clonic seizure, Long eyelashes, Gait ataxia, Dysmetria... OMIM:614756
De Sanctis-Cacchione Syndrome
Scissor gait, Bilateral tonic-clonic seizure, Ataxia, Severe short stature, Choreoathetosis OMIM:278800
Stt3B-Cdg
Abnormal glycosylation ORPHA:370924
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Focal-onset seizure, Highly arched eyebrow, Seizure, Hirsutism, ... OMIM:301044
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation OMIM:615597
Proteus Syndrome
Abnormal subcutaneous fat tissue distribution, Enlarged kidney, Long penis, Lipoma, Abnormal dent... ORPHA:744
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Difficulty walking, Broad eyebrow, Facial hypotonia, Bilateral tonic-c... ORPHA:457359
Metachromatic Leukodystrophy, Adult Form
Chorea, Difficulty walking, Abnormal social behavior, Progressive gait ataxia ORPHA:309271
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Hirsutism, Bladder diverticulum, Bilateral tonic-clonic seizure ORPHA:2976
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Splenomegaly, Umbilical hernia, Duplication of ... OMIM:312870
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Progressive gait ataxia ORPHA:309263
Stt3A-Cdg
Abnormal glycosylation ORPHA:370921
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation OMIM:617395
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Broad-based gait, Lower-limb joint contracture, Seizure,... ORPHA:513456
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Abnormal renal tubular resorption, Bilateral tonic-clonic... ORPHA:73224
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Nonprogressive cerebellar ataxia, Unsteady gait, Ataxia, Dysmetria ORPHA:314647
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Urinary incontinence, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic spasms, Synophr... ORPHA:447997
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Weakness of facial musculature, Hypoplasia of the musculature, Type 1 ... ORPHA:2020
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, High anterior hairline, Inability to walk, Broad-based gait, Seizure, Vesicouret... ORPHA:438213
Sotos Syndrome
Ureteral duplication, Prolonged neonatal jaundice, Congenital posterior urethral valve, Umbilical... ORPHA:821
Fg Syndrome Type 1
Abnormal social behavior, Broad-based gait ORPHA:93932
Malignant Hyperthermia Of Anesthesia
Acute rhabdomyolysis, Acute kidney injury, Abnormality of masseter muscle, Necrotizing myopathy, ... ORPHA:423
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Pate... OMIM:618280
Congenital Myopathy 13
Weakness of facial musculature, Short stature, Hypoxemia, Flexion contracture, Skeletal muscle at... OMIM:255995
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Broad-based gait, Bilateral tonic-clonic seizure, Myoclo... OMIM:620330
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Frontal balding, Long lower eyelashes, Highly arched eye... OMIM:612474
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Abnormal ovarian physiology, Frontal balding, Long penis, Elevated urinary ep... ORPHA:90794
Fanconi-Bickel Syndrome
Impairment of galactose metabolism, Generalized aminoaciduria OMIM:227810
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Acute kidney injury, Seizure, Rhabdomyolysis, Ataxia, Oliguria, Hypocap... ORPHA:466650
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior ORPHA:1675
Acute Liver Failure
Acute kidney injury, Jaundice, Elevated circulating hepatic transaminase concentration, Seizure, ... ORPHA:90062
Kabuki Syndrome 1
Postnatal growth retardation, Highly arched eyebrow, Seizure, Hirsutism, Bilateral tonic-clonic s... OMIM:147920
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Ventilator-Induced Diaphragmatic Dysfunction
Hypercapnia, Abnormality of the diaphragm ORPHA:505395
Hartsfield Syndrome
Growth delay, Micropenis, Hypospadias, Bilateral tonic-clonic seizure OMIM:615465
Doors Syndrome
Bilateral tonic-clonic seizure, Hydronephrosis, Low anterior hairline, Nephrocalcinosis, Increase... ORPHA:79500
Parenteral Nutrition-Associated Cholestasis
Abnormal metabolism ORPHA:567983
Orofaciodigital Syndrome Type 2
Short stature, Bilateral tonic-clonic seizure, Thick hair ORPHA:2751
Niemann-Pick Disease Type C
Abnormal social behavior, Chorea, Gait disturbance, Ataxia, Progressive gait ataxia ORPHA:646
Bickerstaff Brainstem Encephalitis
Facial palsy, Limb muscle weakness, Ataxia, Facial paralysis, Weakness of facial musculature, Hyp... ORPHA:79138
Fructose Intolerance, Hereditary
Transient aminoaciduria, Fructose intolerance, Lethargy OMIM:229600
Prader-Willi Syndrome Due To Translocation
Reduced social reciprocity, Abnormal social behavior ORPHA:177907
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Growth delay, Cardiomegaly, Cyanosis, Hypocapnia ORPHA:980
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia OMIM:601887
Koolen-De Vries Syndrome Due To A Point Mutation
Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Inappropriate laughter, Abnormal social behavior, Overfriendliness ORPHA:363958
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Hypercapnia OMIM:209880
Williams Syndrome
Gait imbalance, Abnormal social behavior, Gait disturbance, Ataxia, Overfriendliness, Dysmetria ORPHA:904
Mend Syndrome
Abnormal social behavior ORPHA:401973
Chronic Thromboembolic Pulmonary Hypertension
Obesity, Hypocapnia ORPHA:70591
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805

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 Bckdk

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 Bckdk.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
BDK Deficiency in Cerebral Cortex Neurons Causes Neurological Abnormalities and Affects Endurance Capacity. Nutrients (July 2020) Bckdktm1c(EUCOMM)Wtsi PMC7469005
Endurance performance and energy metabolism during exercise in mice with a muscle-specific defect in the control of branched-chain amino acid catabolism. PloS one (July 2017) Bckdktm1c(EUCOMM)Wtsi PMC5515431
Muscle-specific deletion of BDK amplifies loss of myofibrillar protein during protein undernutrition. Scientific reports (January 2017) Bckdktm1c(EUCOMM)Wtsi Bckdktm1a(EUCOMM)Wtsi Bckdktm1b(EUCOMM)Wtsi PMC5209746

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
Bckdktm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Bckdktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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