Features include always present findings: Global developmental delay, Pectus carinatum, Sparse lateral eyebrow, and Narrow forehead and others; and very common findings: Short stature. 79 total HPO annotations.

PPP1CB function has not been fully characterized.

Noonan syndrome-like disorder with loose anagen hair 2 is associated with mutations in the PPP1CB gene on chromosome 2.

Genetic testing for PPP1CB is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 15 always present features, 1 very common feature, 24 common features.

No clinical trials have been registered for Noonan syndrome-like disorder with loose anagen hair 2.

2 publications have been identified in PubMed for Noonan syndrome-like disorder with loose anagen hair 2. Research spans Case Report / Case Series (100%).

Recent Publications

• Corso BM (2026). [PMID: 41675685](https://pubmed.ncbi.nlm.nih.gov/41675685/). *Mol Syndromol*. [Case Report / Case Series]

• Gana S (2025). [PMID: 40586991](https://pubmed.ncbi.nlm.nih.gov/40586991/). *Neurogenetics*. [Case Report / Case Series]