Term Name: developmental delay and seizures with or without movement abnormalities
Synonyms:
Definition: A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.
Ontology: Human Disease [DOID:0080473]   ( DOID:0080473 )

Relationships
is a type of: syndromic intellectual disability