Term Name: developmental and epileptic encephalopathy 88
Synonyms: DEE88, early infantile epileptic encephalopathy 88
Definition: A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15.
Ontology: Human Disease [DOID:0112222]   ( DOID:0112222 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy