Term Name: | developmental delay and seizures with or without movement abnormalities |
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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 ) |