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Symbol
Name
ID 		Pdhb
pyruvate dehydrogenase (lipoamide) beta
MGI:1915513
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Abnormal CSF pyruvate family amino acid concentration
Increased CSF lactate
Dysphagia
Oculomotor apraxia
Spastic paraplegia
Spastic tetraplegia
Abnormality of the nervous system
Gliosis
Basal ganglia gliosis
Cerebellar gliosis
Abnormal brain morphology
Lateral ventricle dilatation
Subependymal cysts
Ventriculomegaly
Polymicrogyria
Basal ganglia cysts
Basal ganglia necrosis
Agenesis of corpus callosum
Partial agenesis of the corpus callosum
Hypoplasia of the corpus callosum
Periventricular leukomalacia
Cerebral atrophy
Cerebellar cyst
Intracranial cystic lesion
Ataxia
Episodic ataxia
Gait ataxia
Poor fine motor coordination
Poor gross motor coordination
Choreoathetosis
Myoclonus
Tremor
EEG with focal sharp waves
EEG with focal spikes
EEG with generalized sharp slow waves
Hypsarrhythmia
Lethargy
Poor speech
Intellectual disability
Intellectual disability, mild
Intellectual disability, profound
Drowsiness
Jerky head movements
Hyperreflexia
Brisk reflexes
Hyporeflexia
Dystonia
Generalized dystonia
Paroxysmal dystonia
Inability to walk
Unsteady gait
Global developmental delay
Motor delay
Delayed gross motor development
Persistent head lag
Seizure
Bilateral tonic-clonic seizure
Infantile spasms
Disease(s) Associated with PDHB
pyruvate decarboxylase deficiency

Mouse Phenotypes
abnormal neural tube morphology
abnormal forebrain development
Availability Mouse Genotype
Pdhbem1(IMPC)Bay/Pdhbem1(IMPC)Bay
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory