Visualize Submit Comment
Metadata
ID DOID:0112161
Name Noonan syndrome 13
Definition A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase.
https://pubmed.ncbi.nlm.nih.gov/32721402/
Xrefs

OMIM:619087

Synonyms

NS13 [EXACT]

Parent Relationships

is_a Noonan syndrome

is_a autosomal dominant disease

Add an item to the term tracker