developmental and epileptic encephalopathy 29

Term ID

DOID:0080451

Synonyms

• DEE29
• early infantile epileptic encephalopathy 29

Definition

A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. https://www.ncbi.nlm.nih.gov/pubmed/25817015

References

• OMIM:616339

Ontology

Human Disease   ( DOID:0080451 )