microcephaly, seizures, and developmental delay

Term ID

DOID:0080457

Synonyms

• developmental and epileptic encephalopathy 10
• early infantile epileptic encephalopathy 10

Definition

A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (2)

References

• OMIM:613402

Ontology

Human Disease   ( DOID:0080457 )