developmental delay and seizures with or without movement abnormalities Disease Ontology Browser

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Disease Ontology Browser

developmental delay and seizures with or without movement abnormalities (DOID:0080473)
Alliance: disease page
Alt IDs: OMIM:617836
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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