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Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.
Features include always present findings: Leukonychia. 4 total HPO annotations.
Organ System
Phenotype Count |
|---|
Example Features |
|---|
Skin | 2 | Abnormal skin morphology, Concave nail |
PLCD1 function has not been fully characterized.
Nonsyndromic congenital nail disorder 3 is associated with mutations in the PLCD1 gene on chromosome 3.
Genetic testing for PLCD1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for nonsyndromic congenital nail disorder 3.
2 publications have been identified in PubMed for nonsyndromic congenital nail disorder 3. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).
Cedirian S (2024). [PMID: 39386306](https://pubmed.ncbi.nlm.nih.gov/39386306/). *Skin Appendage Disord*. [Review / Meta-Analysis]
Charng WL (2024). [PMID: 38663984](https://pubmed.ncbi.nlm.nih.gov/38663984/). *J Med Genet*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:58 PM UTC
Online Mendelian Inheritance in Man
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