Features include always present findings: Prominent fingertip pads, Generalized hypotonia, Intellectual disability, and Anophthalmia and others; and very common findings: Mild intellectual disability and Ankyloblepharon. 60 total HPO annotations.

NAA10 encodes N-alpha-acetyltransferase 10, NatA catalytic subunit (235 aa). Catalytic subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase activity. Acetylates amino termini that are devoid of initiator methionine. Highest expression in Uterus (78.8 TPM) and Cells Cultured fibroblasts (78.7 TPM).

Microphthalmia, syndromic 1 is associated with mutations in the NAA10 gene on chromosome X.

NAA10 is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

Genetic testing for NAA10 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 11 always present features, 2 very common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for microphthalmia, syndromic 1.

2 publications have been identified in PubMed for microphthalmia, syndromic 1. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Yang ZQ (2025). [PMID: 40558489](https://pubmed.ncbi.nlm.nih.gov/40558489/). *Cells*. [Review / Meta-Analysis]

• Saha S (2024). [PMID: 39610905](https://pubmed.ncbi.nlm.nih.gov/39610905/). *Computational and structural biotechnology journal*. [Basic Science / Preclinical]