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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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OMIM:617836

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is_a syndromic intellectual disability

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