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 |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
has phenotype some Neurodevelopmental delay |