developmental delay and seizures with or without movement abnormalities

Term ID

DOID:0080473

Synonyms

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

References

• OMIM:617836

Ontology

Human Disease   ( DOID:0080473 )