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Human Disease

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
Ontology
Human Disease   ( DOID:0112161 )
Relationships
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Genes Involved
Zebrafish Models