Search Ontology:
Human Disease

Kleefstra syndrome 2

Term ID
DOID:0080598
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
Ontology
Human Disease   ( DOID:0080598 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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