Noonan syndrome 13

Term ID

DOID:0112161

Synonyms

• NS13

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/

References

• OMIM:619087

Ontology

Human Disease   ( DOID:0112161 )