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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
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset s... ORPHA:330050
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:615006
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, S... OMIM:245570
Tyrosinemia Type 2
Ataxia, Abnormality of amino acid metabolism ORPHA:28378
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... OMIM:617389
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Ataxia, Myoclonus, I... OMIM:619065
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly, Myoclonus, Dystonia ORPHA:139406
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, I... OMIM:619701
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure, Slender build OMIM:617709
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Short stature, Bilateral tonic-clonic seizure OMIM:619639
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls,... OMIM:616230
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Chromosome 15Q11-Q13 Duplication Syndrome
Unsteady gait, Impaired ability to form peer relationships, Impaired social interactions, Truncal... OMIM:608636
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Focal... OMIM:617904
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating vitamin E concentration, Bradykinesia, Dysdiadochokinesis, Gait disturbance... ORPHA:309854
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking OMIM:613608
Benign Familial Infantile Epilepsy
Cyanosis, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple... ORPHA:306
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized amyotroph... OMIM:616540
Continuous Spikes And Waves During Sleep
Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical ... ORPHA:725
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Flexion contracture, Focal tonic s... OMIM:617106
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia OMIM:617862
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Gait ataxia, Seizure, Myoclonus OMIM:615362
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Dysmetria, Gait ataxia,... OMIM:618090
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... OMIM:301020
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Synophrys, Unsteady gait, Seizure OMIM:620317
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Seizure, Myoclonus OMIM:162350
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure, Ataxia, Limb ataxia, Gait ataxia, Growth delay OMIM:614322
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Unsteady gait, Myocloni... OMIM:616409
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Dystonia OMIM:618425
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Status epilepticus, Intrauterine growth retardation, Failure to t... OMIM:617082
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor OMIM:601068
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... ORPHA:2382
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Foc... OMIM:617711
Foxg1 Syndrome
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability t... ORPHA:561854
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... OMIM:616139
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal ... ORPHA:464282
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... ORPHA:2590
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... OMIM:619157
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Highly arched eyebrow... OMIM:617976
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonus, Status epilepticus withou... OMIM:204300
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotro... OMIM:203740
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Ataxia, Tremor, Seizure, Myoclonus, Decreased serum creatinine, F... OMIM:612736
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... OMIM:607682
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive OMIM:609056
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Flexion contracture, Myopathy, Dystonia, Intrauterine growth reta... OMIM:618237
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Abnormality of amino acid metabolism ORPHA:220295
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, G... ORPHA:36387
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei... OMIM:617113
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... ORPHA:98818
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... OMIM:616645
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy, Postural tremor, Bilateral tonic-clonic seizure, Urinary incontinence, G... ORPHA:100988
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia OMIM:104290
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Urinary incontinence, Cachexia, Ataxia, Tremor, Dysmetria, Gait a... OMIM:618093
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Action tremor, Impaired tandem gait, Seizure, Gait disturbance, F... OMIM:300423
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Action tremor, Inability to walk, Unsteady gait, Obesity, Dysmetr... ORPHA:93952
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Bilateral tonic-clonic seizure, Ataxia, Tremor, Dystonia, Generalized myoclonic se... OMIM:617836
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Intellectual Developmental Disorder, Autosomal Dominant 5
Congenital muscular torticollis, Torticollis, Bilateral tonic-clonic seizure, Seizure, Myoclonic ... OMIM:612621
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Seizure, Athetosis, Focal impaired awareness seizure, Dys... ORPHA:382
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... OMIM:617810
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Choreoathetosis, G... OMIM:616981
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated urinary 4-hydroxybutyric acid, Bilateral tonic-clonic seizure, Ataxia, Increased level o... OMIM:271980
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Oculo... ORPHA:208447
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Bilateral tonic-clonic seizure, Low anterior hairline, Dysmetria, Gait ataxia, Spa... OMIM:615031
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, To... OMIM:619881
Developmental And Epileptic Encephalopathy 23
Double eyebrow, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Synophrys, Low a... OMIM:615859
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking OMIM:619191
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Hsd10 Disease
Ataxia, Choreoathetosis, Abnormal urinary acylglycine profile, Gait disturbance, Abnormal social ... ORPHA:391417
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia OMIM:619301
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Decreased body weight, Fa... OMIM:614559
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Ataxia, Generalized tonic seizure OMIM:611603
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Cryptorchidis... OMIM:618917
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Inability to walk, Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Seizures, Benign Familial Infantile, 3
Cyanosis, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:607745
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadocho... OMIM:614487
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia OMIM:619302
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Generalized dystonia, Bilateral tonic-clonic seizure, Ataxia, Increased urinary... OMIM:272300
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Flexion contracture, Focal to... OMIM:617105
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Gait ataxia, Growth delay, Seizure, Gait imbalance, Intrauterine ... ORPHA:488635
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset, Hypersplenism, Clonic seizure, Spl... OMIM:610539
Sarcosinemia
Hypersarcosinuria, Peroneal muscle weakness, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
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
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Low anterior hairline, Gen... OMIM:619616
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:208441
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:204200
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content, Bilateral tonic-clonic seizure OMIM:611556
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure, Failure ... OMIM:618235
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation OMIM:615596
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated urinary 3-hydroxyb... ORPHA:42
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Clcn4-Related X-Linked Intellectual Disability Syndrome
Inguinal hernia, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Unsteady gait,... ORPHA:485350
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m... ORPHA:263516
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Bilateral tonic-clonic seizure, Cryptorchidism, ... ORPHA:457205
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Enamel h... OMIM:226750
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Focal-... ORPHA:289266
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Thick eyebrow, Myoclonic seizure OMIM:619000
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Generalized-onset seizure, Bilateral tonic-clonic seizure, Cryptorchidism, Seizure, Failure to th... OMIM:604317
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria, Bilateral tonic-clonic seizure OMIM:249650
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Inguinal hernia, Bilateral tonic-clonic seizure, Cryptorchidism, Seizure, Focal impaired awarenes... OMIM:613970
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Abnormal mitochondria in muscle tissue, Distal... ORPHA:313772
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... OMIM:620028
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Bilateral tonic-clonic seizure, Myopa... ORPHA:369840
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Small for gestational age, Infantile spasms, Ataxia, Inability to... ORPHA:79243
Cln3 Disease
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Shufflin... ORPHA:228346
Developmental And Epileptic Encephalopathy 47
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Inability to walk, Li... OMIM:617166
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait a... ORPHA:254881
Fructose And Galactose Intolerance
Fructose intolerance, Galactose intolerance OMIM:229500
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Akinesia, Focal motor seizure, S... OMIM:619911
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... OMIM:608836
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Gait disturbance, Mic... ORPHA:457240
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Flexion contracture, Generalized non-motor (absence) seizure, Sei... OMIM:616281
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Diabetes Mellitus, Permanent Neonatal, 2
Flexion contracture, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal on... OMIM:618856
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Bilateral tonic-clonic seizure, Ankle flexion contracture, Rhabdomyolysis, 3-Methy... OMIM:618120
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Splenomegaly, Generalize... OMIM:615637
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Cyanosis, Bilateral tonic-clonic seizure with focal onset, Focal-onset... OMIM:601764
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neonatal se... ORPHA:140927
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age OMIM:240900
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure, Dystonia ORPHA:53583
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... OMIM:619913
Severe Canavan Disease
Inability to walk, Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Bilateral tonic-clonic seizure, Ankle flexion contracture, Fle... OMIM:617468
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis, Myoclonus ORPHA:726
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Galactose Epimerase Deficiency
Aminoaciduria, Impairment of galactose metabolism ORPHA:79238
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Infantile spasms, Athetosis, Focal impaired awareness seizure, Dy... OMIM:617493
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Focal-onset seizure, Convulsive status epilepticus, Dystonia OMIM:618760
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Jaberi-Elahi Syndrome
Broad-based gait, Brittle hair, Sparse eyelashes, Bilateral tonic-clonic seizure, Sparse eyebrow,... OMIM:617988
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... ORPHA:529665
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney OMIM:618272
3-Methylglutaconic Aciduria, Type V
Diaphragmatic eventration, Hypospadias, Elevated circulating aspartate aminotransferase concentra... OMIM:610198
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, I... OMIM:617303
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Inability to walk, Growth delay, Seizure, Focal impaired awarenes... ORPHA:488613
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617290
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure, Urinary incontinence ORPHA:329329
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seiz... OMIM:618170
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Opisthotonus, Growth delay, Seizure, Aminoaciduria, Focal clonic ... OMIM:220120
Severe Neonatal-Onset Encephalopathy With Microcephaly
Growth delay, Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Brain Small Vessel Disease 2
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Short stature, Proteinuria, Abnormal dental enamel morp... ORPHA:251004
Classic Homocystinuria
Abnormality of amino acid metabolism ORPHA:394
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Choreoathetosis, Status epilepticus, Gen... OMIM:612164
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Skeletal muscle atrophy, Bilateral tonic-clonic seizu... OMIM:268800
Dk1-Cdg
Elevated hepatic transaminase, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, F... ORPHA:91131
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, Fetal pyelectasis, Focal impaired awareness ... OMIM:301058
Late Infantile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Typical absence seizure, Inability t... ORPHA:168491
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Inguinal hernia, Short stature, Bilateral tonic-clonic seizure, Abnormality of h... ORPHA:79351
Warburg Micro Syndrome 3
Decreased muscle mass, Bilateral tonic-clonic seizure, Postnatal growth retardation, Inability to... OMIM:614222
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Growth delay, Seizure OMIM:615716
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Cyanosis, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Clonic seizure,... OMIM:619580
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Bilateral tonic-clonic seizure OMIM:540000
X-Linked Intellectual Disability Due To Gria3 Mutations
Short stature, Bilateral tonic-clonic seizure, Facial hypotonia, Cryptorchidism, Seizure, Status ... ORPHA:364028
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Renal insuf... OMIM:276700
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Bilateral tonic-clonic seizure, Thick hair, Facial hypotonia, Synophrys, Long eyelashes, Horizont... OMIM:618381
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus, Nep... OMIM:614652
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal impaired awareness seizure, Mi... OMIM:620292
Developmental And Epileptic Encephalopathy 61
Loss of ambulation, Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Seizure, Focal ... OMIM:619854
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
H Syndrome
Abnormal eyebrow morphology, Alopecia, Short stature, Abnormality of the kidney, Lipodystrophy, A... ORPHA:168569
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inguinal hernia, Multifocal seizures, Bilateral tonic-clonic seizure, Multiple join... OMIM:618143
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... OMIM:208540
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Lower limb muscle weakness, Tonic seizure, Focal hemiclonic sei... OMIM:616973
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Broad eyebrow, Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Ataxia, Inability to walk... ORPHA:481152
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset... ORPHA:98795
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dystonia, Nocturnal seizures, ... OMIM:619725
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Seizure, Lower limb hypertonia, Umbilical hernia, Mild short stat... OMIM:169400
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Homocystinuria, Ataxia, Focal-onset seizure, Generalized non-moto... ORPHA:395
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Urinary incontinence, Fo... ORPHA:268947
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Short stature, Proteinuria, H... OMIM:232200
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Multifocal seizures, Bilateral tonic-clonic seizure, Acute rhabdom... ORPHA:480864
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Hepatosplenomegaly, Myoclonic seizu... ORPHA:309155
Intellectual Developmental Disorder, X-Linked 30
Seizure, Short stature, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300558
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Nephrolithiasis OMIM:619827
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Elevated urinary N-acetylaspartic acid level, Op... OMIM:271900
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Urinary incontinence, A... OMIM:617193
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Bilateral tonic-clonic seiz... OMIM:201475
Diaphanospondylodysostosis
Inguinal hernia, Nephrogenic rest, Disproportionate short-trunk short stature, Nephroblastomatosi... OMIM:608022
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... ORPHA:501
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Glutaric aciduria, Myoclonic sei... OMIM:600721
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Alopecia of scalp, Bilateral tonic-clonic seizure, Gait disturbance ORPHA:199354
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Microvesicular hepatic steatosis, Opisthotonus, Status epilepticu... OMIM:616672
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus OMIM:607876
Alg9-Cdg
Omphalocele, Hepatomegaly, Torticollis, Hypoplasia of the bladder, Rhizomelia, Hepatic cysts, Hyp... ORPHA:79328
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... ORPHA:1934
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Ritscher-Schinzel Syndrome 4
Curly hair, Short stature, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Cryptorch... OMIM:619435
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Urinary incontinence, Infantile spasms, Tonic seizure, Postnatal ... OMIM:300912
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Inguinal hernia, Bilateral tonic-clonic seizure, Infantile spasms, Flexion contracture, Seizure, ... ORPHA:544503
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Bilateral tonic-clonic seizure, Hydroureter, Ataxia, Large for gestational age... OMIM:615398
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Hypoxemia, Abnormality of connective tissue, Failure to thrive, Enlarg... ORPHA:79128
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Brittle hair, Diastasis recti, Cardiomegaly, Sparse eyebrow, Splen... OMIM:252500
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Mesenteric cyst, Bilateral tonic-clonic seizure, Hypospadias, Highly arched eyebrow,... OMIM:618316
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... OMIM:300607
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Proteinuria, Bilateral tonic-clonic seizure with focal onset, Failure to thrive in infa... ORPHA:488627
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Short stature, Proteinuria, Hepatocellular carcinoma, Irregular ... ORPHA:79259
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Highly arched eyebrow, Infantile spasms, Inability to walk, Gener... ORPHA:457351
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Synophrys, Myoclonic seizure, Long eyelashes, Foca... OMIM:619983
Juvenile Neuronal Ceroid Lipofuscinosis
Loss of ambulation, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Melas
Short stature, Bilateral tonic-clonic seizure, Proteinuria, Hypogonadotropic hypogonadism, Ataxia... ORPHA:550
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Episodic ataxia OMIM:602481
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Broad-based gait, Bilateral tonic-clonic seizure, Synophrys, Coarse hair OMIM:616351
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Unsteady gait, Knee flexion contracture, Calf m... OMIM:618733
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Bilateral tonic-clonic seizure, Ataxi... ORPHA:255210
Aspartylglucosaminuria
Aspartylglucosaminuria, Abnormality of amino acid metabolism ORPHA:93
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus, Hiatus hernia OMIM:614618
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Proteinuria, Hep... OMIM:232220
Lissencephaly 9 With Complex Brainstem Malformation
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Foca... OMIM:618325
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Bilateral tonic-clonic seizure, Ataxia, Abnormality of the upper ur... ORPHA:99885
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Bilateral tonic-clonic seizure, Urinary incontinence... ORPHA:496641
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Inability to walk ... OMIM:620224
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Sparse eyelashes, Bilateral tonic-clonic seizure, Short stature, Urinary incontinence, Sparse eye... OMIM:620070
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Short stature, Bilateral tonic-clonic seizure, Hypospadias, Nephrob... OMIM:257300
Houge-Janssens Syndrome 3
Inguinal hernia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:618354
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Gait disturbance ORPHA:275864
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Highly arched eyebrow... OMIM:615476
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Cryptorchidism, Unsteady gait, Generalized non-motor (absence) se... OMIM:617798
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Pos... ORPHA:508
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Bilateral tonic-clonic seizure, Increased urinary taurine, Generalized... OMIM:615501
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Short stature, Bilateral tonic-clonic seizure, Highly arched eyebrow, Lo... OMIM:615802
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Thick hair, Heparan sulfate excretion in urine, Inability to walk, Flexion contractu... ORPHA:505248
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthi... OMIM:252160
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... ORPHA:449395
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Short stature, Bilateral tonic-clonic seizure, Prolonged neonatal jaundice, Severe failure to thr... ORPHA:423479
Glass Syndrome
Inguinal hernia, Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Facial hypotoni... OMIM:612313
Bone Marrow Failure Syndrome 5
Short stature, Bilateral tonic-clonic seizure, Growth delay, Hypogonadism, Nail dystrophy, Testic... OMIM:618165
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Synophrys, ... OMIM:619777
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:268940
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Nephrolithiasis, Seizure, Athetosis, Focal impaired awareness sei... ORPHA:369929
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Bilateral tonic-clonic seizure, Albinism, Splenomegaly, Dystonia, Focal myoclonic s... OMIM:617050
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Congenital diaphragmatic hernia, Uni... ORPHA:2260
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency
Seizure OMIM:614923
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... ORPHA:363558
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive gait ataxi... ORPHA:329308
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Hirsutism ORPHA:90301
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Pelvic girdle muscle atrophy, Bilateral tonic-clonic seizure, Sparse pubic hai... ORPHA:3044
Ogden Syndrome
Generalized-onset seizure, Cardiomegaly, Microvesicular hepatic steatosis, Macrovesicular hepatic... OMIM:300855
Intellectual Developmental Disorder, Autosomal Dominant 54
Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Ataxia, Inability to wa... OMIM:617799
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure with fo... OMIM:620024
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Ataxia, Supernumerary nipple, Highly arched eyebrow, Growth delay... ORPHA:247262
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Myoclonic seizure, Gait ataxia, Sparse hair, Hepatomegaly, Elevated ci... OMIM:280000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence)... OMIM:614207
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Bilateral tonic-clonic seizure, Hypospadias ORPHA:79350
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic re... OMIM:200995
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Bilateral tonic-clonic seizur... OMIM:261515
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia ORPHA:530983
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, L... ORPHA:116
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rhabdomyolysis, Seizure, Dystonia, ... OMIM:610505
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Urinary incontinence, Focal hyperkinetic sei... ORPHA:98784
1Q44 Microdeletion Syndrome
Short stature, Bilateral tonic-clonic seizure, Synophrys, Horseshoe kidney, Growth delay, Vesicou... ORPHA:238769
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoc... OMIM:617281
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Bilateral tonic-clonic seizure, Supernumerary nipple OMIM:616083
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Skeletal muscle atrophy, Failure to thrive, Bilater... OMIM:252010
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia,... OMIM:130650
Webb-Dattani Syndrome
Neurogenic bladder, Short stature, Bilateral tonic-clonic seizure, Cryptorchidism, Obesity, Hypos... OMIM:615926
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure, Nephrolithiasis, Myoclonic seizure, Athetosis, Left ventricular h... OMIM:615474
Argininemia
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Seizure, Diamino... OMIM:207800
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Bilateral tonic-clonic seizure, Failure to thrive in... ORPHA:79124
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) ... ORPHA:435638
Biotinidase Deficiency
Alopecia, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure,... ORPHA:79241
Galactose Mutarotase Deficiency
Impairment of galactose metabolism ORPHA:570422
Lissencephaly Due To Tuba1A Mutation
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, 3-Methylglutaconic ... OMIM:619835
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Hypospadias, Renal agenesis, Postnatal growth retardation, Crypto... OMIM:301040
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria, Bilateral tonic-clonic seizure, Limb hypertonia ORPHA:99742
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Short stature, Facial palsy, Tonic seizure, Cryptorchidism, T... OMIM:615873
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Mul... ORPHA:464329
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe... ORPHA:64280
Slc35A2-Cdg
Abnormal glycosylation, Inability to walk, Decreased galactosylation of N-linked protein glycosyl... ORPHA:356961
Congenital Insensitivity To Pain With Severe Intellectual Disability
Small for gestational age, Bilateral tonic-clonic seizure ORPHA:453510
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Cardiomegaly, Macroglossia, Seizure, Myopathy, Ascites, Enlarged kidney OMIM:261740
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Facial hypotonia, Ataxia, Tremor, Focal motor seizure, Choreoathe... ORPHA:2131
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... OMIM:194080
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Micropenis, Short stature, Hypospadias, Ataxia, Cryptorchidism, Typical absence seizure, Seizure,... ORPHA:268261
Japanese Encephalitis
Skeletal muscle atrophy, Bilateral tonic-clonic seizure, Facial palsy, Tremor, Elbow flexion cont... ORPHA:79139
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Progressive gait ataxia, Tip-toe gait, Gait ataxia ORPHA:309256
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis, Bilateral tonic-clonic seizure OMIM:618832
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilater... OMIM:614231
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Mitochondrial Trifunctional Protein Deficiency 2
Bilateral tonic-clonic seizure, Recurrent myoglobinuria, Elevated circulating aspartate aminotran... OMIM:620300
Weaver Syndrome
Inguinal hernia, Bilateral tonic-clonic seizure, Diastasis recti, Cryptorchidism, Generalized non... OMIM:277590
Kinsship Syndrome
Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Synophrys, Generalized non-mo... OMIM:619297
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Inguinal hernia, Bilateral tonic-clonic seizure, Hypospadias, Ataxia, Focal-onset seizure, Crypto... ORPHA:459070
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Growth delay, Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly ORPHA:436159
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Ataxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Obesi... ORPHA:163681
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Cyanosis, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Hor... OMIM:306955
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Ataxia ORPHA:1020
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
X Small Rings
Premature ovarian insufficiency, Bilateral tonic-clonic seizure, Fetal pyelectasis, Primary ameno... ORPHA:96201
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Short stature, Ataxia, Splenomegaly, Jaundice, Inability to walk, Growth delay, Sei... OMIM:608885
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Short stature, Bilateral tonic-clonic seizure with focal onset, Ataxia, Tremor, ... OMIM:614947
Hyperparathyroidism, Transient Neonatal
Inguinal hernia, Unilateral renal agenesis, Splenic cyst, Umbilical hernia, Enlarged kidney OMIM:618188
Congenital Disorder Of Glycosylation, Type Iio
Abnormal glycosylation OMIM:616828
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Bilateral tonic-clonic seizure, Proportionate short stature,... OMIM:234100
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, Status epilep... OMIM:610042
W Syndrome
Bilateral tonic-clonic seizure, Abnormality of the scalp hair, Camptodactyly ORPHA:2804
Choreoacanthocytosis
Hepatomegaly, Resting tremor, Muscle fiber atrophy, Bilateral tonic-clonic seizure, Elevated circ... ORPHA:2388
Morgagni-Stewart-Morel Syndrome
Abnormal metabolism ORPHA:77296
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short stature, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Hydrocele testis, Multiple lipomas, Nephroblastoma, Enlarged kidney ORPHA:276280
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Renal cyst, Hypercalciur... ORPHA:369837
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Short stature, Bilateral tonic-clonic seizure OMIM:300578
Endocrine-Cerebroosteodysplasia
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Dilatation of renal calices, Synophrys, T... ORPHA:466950
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Bladder diverticulum, Intrauterine growth retardation, Atonic sei... ORPHA:2976
Cocaine Intoxication
Bilateral tonic-clonic seizure, Proteinuria, Glomerulonephritis, Tremor, Focal-onset seizure, Rha... ORPHA:90068
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypercapnia, Seizure, Falls, Difficulty walking, Dystonia OMIM:618222
De Sanctis-Cacchione Syndrome
Severe short stature, Bilateral tonic-clonic seizure, Ataxia, Bilateral cryptorchidism, Scissor g... OMIM:278800
Gaucher Disease
Hepatomegaly, Short stature, Bilateral tonic-clonic seizure, Proteinuria, Ataxia, Tremor, Splenom... ORPHA:355
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Resting tremor, Renal insufficiency, Bilateral tonic-clonic seizur... ORPHA:319213
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Synophrys, Generalized non-motor ... OMIM:301091
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchidism, Synophrys, Fetal pyelectasis, Low ... OMIM:619512
Oliver Syndrome
Bilateral tonic-clonic seizure, Camptodactyly of finger, Supernumerary nipple, Elbow flexion cont... ORPHA:2920
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Large for gestational age, Macr... ORPHA:500095
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure OMIM:600092
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Bilateral tonic-clonic seizure, Ataxia, Seizure, Myoclonus, Failure to thrive OMIM:618426
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Hypercapnia, Ataxia, Tremor, Weight loss, Distal amyotrophy, D... OMIM:164310
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Bilateral tonic-clonic seizure, Cardiomegaly, Inability to walk, Trunc... OMIM:620066
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid... OMIM:608978
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Broad-based gait OMIM:616457
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Dilatation of renal calices, Synophrys, Generalized non-motor (ab... ORPHA:466943
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Ataxia, Hiatus hernia, Generaliz... OMIM:614756
Stt3B-Cdg
Abnormal glycosylation ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation OMIM:615597
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Hepatomegaly, Hypospadias, Cryptorch... OMIM:312870
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Highly arched eyebrow, Infantile spasms, Con... OMIM:301044
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Facial hypotonia, Bilateral tonic-clonic seizure, Large for gestational age, Sparse eyebrow, Gait... ORPHA:457359
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Unsteady gait, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, Abnorm... ORPHA:314647
Metachromatic Leukodystrophy, Adult Form
Progressive gait ataxia, Abnormal social behavior, Chorea, Difficulty walking ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Abnormal social behavior ORPHA:309263
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a... ORPHA:513456
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcif... ORPHA:73224
Stt3A-Cdg
Abnormal glycosylation ORPHA:370921
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation OMIM:617395
Chromosome 22Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Status epilepticus OMIM:615538
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Short stature, Uterine prolapse, Broad-based gait,... ORPHA:438213
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Hyp... ORPHA:2020
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Bilateral tonic-clonic seizure, Urinary incontinence, Infantile spas... ORPHA:447997
Sotos Syndrome
Ureteral duplication, Tremor, Flexion contracture, Vesicoureteral reflux, Hypospadias, Abnormalit... ORPHA:821
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior ORPHA:93932
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Cardiac-Urogenital Syndrome
Accessory spleen, Penoscrotal hypospadias, Unilateral cryptorchidism, Congenital diaphragmatic he... OMIM:618280
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Abnorm... ORPHA:423
Congenital Myopathy 13
Skeletal muscle atrophy, Short stature, Hypercapnia, Fatty replacement of skeletal muscle, Crypto... OMIM:255995
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Short stature, Hypogonadotropic hypogonadism, Frontal balding, Renal salt wasting, Abnormality of... ORPHA:90794
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Frontal balding, Highly arched eyebrow, Tremor, Synophrys, Genera... OMIM:612474
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclo... OMIM:620330
Fanconi-Bickel Syndrome
Impairment of galactose metabolism, Generalized aminoaciduria OMIM:227810
Exercise-Induced Malignant Hyperthermia
Ataxia, Rhabdomyolysis, Oliguria, Seizure, Decreased liver function, Hypocapnia, Hepatic failure,... ORPHA:466650
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior ORPHA:1675
Hartsfield Syndrome
Bilateral tonic-clonic seizure, Hypospadias, Cryptorchidism, Growth delay, Micropenis OMIM:615465
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Short stature, Bilateral tonic-c... OMIM:147920
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Acute Liver Failure
Elevated hepatic transaminase, Ataxia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necr... ORPHA:90062
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Bilateral tonic-clonic seizure, Low anterior h... ORPHA:79500
Ventilator-Induced Diaphragmatic Dysfunction
Abnormality of the diaphragm, Hypercapnia ORPHA:505395
Parenteral Nutrition-Associated Cholestasis
Abnormal metabolism ORPHA:567983
Niemann-Pick Disease Type C
Ataxia, Chorea, Progressive gait ataxia, Gait disturbance, Abnormal social behavior ORPHA:646
Orofaciodigital Syndrome Type 2
Short stature, Thick hair, Bilateral tonic-clonic seizure ORPHA:2751
Bickerstaff Brainstem Encephalitis
Ataxia, Facial palsy, Hypercapnia, Weakness of facial musculature, Limb muscle weakness, Facial p... ORPHA:79138
Fructose Intolerance, Hereditary
Lethargy, Transient aminoaciduria, Fructose intolerance OMIM:229600
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions ORPHA:177907
Absence Of The Pulmonary Artery
Cyanosis, Abnormal hemidiaphragm morphology, Cardiomegaly, Growth delay, 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
Abnormal social behavior, Inappropriate laughter, Overfriendliness ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Overfriendliness ORPHA:363958
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Hypercapnia OMIM:209880
Williams Syndrome
Ataxia, Dysmetria, Gait disturbance, Gait imbalance, Abnormal social behavior, Overfriendliness 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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