| Metadata | |
|---|---|
| ID | DOID:0080457 |
| Name | microcephaly, seizures, and developmental delay |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/23224214, https://www.ncbi.nlm.nih.gov/pubmed/20118933 |
| Xrefs | |
| Synonyms |
developmental and epileptic encephalopathy 10 [EXACT] early infantile epileptic encephalopathy 10 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |