ZFIN Human Disease: Kleefstra syndrome 2

OBO ID: DOID:0080598

Term Name:	Kleefstra syndrome 2		Search Ontology:
Synonyms:
Definition:	A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. https://www.ncbi.nlm.nih.gov/pubmed/29069077
References:	OMIM:617768 ORDO:261652
Ontology:	Human Disease ( DOID:0080598 )

Relationships

is a type of:	autosomal dominant disease Kleefstra syndrome autosomal dominant disease Kleefstra syndrome Show first 5 Terms

OTHER Kleefstra syndrome 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KMT2C	kmt2cb kmt2ca	Kleefstra syndrome 2	617768

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None