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Metadata
ID DOID:0080598
Name Kleefstra syndrome 2
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
Xrefs

OMIM:617768

ORDO:261652

Parent Relationships

is_a Kleefstra syndrome

is_a autosomal dominant disease

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