Watson syndrome

Summary
Definition
A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2.
Super Class
RASopathy autosomal dominant disease
Disease Ontology
DOID:0070483
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4763 NF1 neurofibromin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18015 Nf1 neurofibromin 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024