| 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 | |
| Synonyms |
NS13 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a Noonan syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |