ZFIN Human Disease: developmental delay and seizures with or without movement abnormalities

OBO ID: DOID:0080473

Term Name:	developmental delay and seizures with or without movement abnormalities		Search Ontology:
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 )

Relationships

is a type of:	syndromic intellectual disability syndromic intellectual disability Show first 5 Terms

OTHER developmental delay and seizures with or without movement abnormalities PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DHDDS	dhdds	Developmental delay and seizures with or without movement abnormalities	617836

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None