Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080473 )
Relationships
is a type of
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Genes Involved
Zebrafish Models