Metadata | |
---|---|
ID | DOID:0112220 |
Name | developmental and epileptic encephalopathy 86 |
Definition | A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31. https://pubmed.ncbi.nlm.nih.gov/32427860/ |
Xrefs | |
Synonyms |
DEE86 [EXACT] early infantile epileptic encephalopathy 86 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |