Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Parents (8)

• 13028004Abnormal nervous system function finding
• 43614003Autistic disorder of childhood onset disorder
• 85995004Autosomal recessive hereditary disorder disorder
• 363070008Developmental hereditary disorder disorder
• 116020001Disorder of branched-chain amino acid metabolism disorder
• 84757009Epilepsy disorder
• 1362108000Genetic intellectual disability disorder
• 363235000Hereditary disorder of nervous system disorder

Children (0)

None (leaf concept).