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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

MIM:617836

Parent Relationships

is_a syndromic intellectual disability

Subclass Logical Relationships

has phenotype some Neurodevelopmental delay

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