| Metadata | |
|---|---|
| ID | DOID:0080473 |
| Name | developmental delay and seizures with or without movement abnormalities |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/29100083 |
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