Features include always present findings: Intellectual disability and Global developmental delay; and common findings: Generalized hypotonia, Ventricular septal defect, Single transverse palmar crease, and Downslanted palpebral fissures and others. 35 total HPO annotations.

NAA20 encodes N-alpha-acetyltransferase 20, NatB catalytic subunit (178 aa). Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln. Highest expression in Esophagus Mucosa (136.3 TPM) and Testis (87.2 TPM).

Intellectual developmental disorder, autosomal recessive 73 is associated with mutations in the NAA20 gene on chromosome 20.

NAA20 is classified as a druggable target with score 0.0.

Genetic testing for NAA20 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 6 common features.

No clinical trials have been registered for intellectual developmental disorder, autosomal recessive 73.

4 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 73. Research spans Case Report / Case Series (75%) and Epidemiology / Natural History (25%).

Recent Publications

• Asahi Y (2026). [PMID: 41791722](https://pubmed.ncbi.nlm.nih.gov/41791722/). *Anesth Prog*. [Case Report / Case Series]

• İcil S (2026). [PMID: 42232678](https://pubmed.ncbi.nlm.nih.gov/42232678/). *Mol Syndromol*. [Epidemiology / Natural History]

• Borgione E (2025). [PMID: 40562130](https://pubmed.ncbi.nlm.nih.gov/40562130/). *Gene*. [Case Report / Case Series]

• Berling E (2024). [PMID: 39176129](https://pubmed.ncbi.nlm.nih.gov/39176129/). *Neurol Genet*. [Case Report / Case Series]