AFG2A encodes AAA ATPase AFG2A (893 aa). ATP-dependent chaperone part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Highest expression in Testis (5.7 TPM) and Cervix Ectocervix (4.3 TPM).

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome is associated with mutations in the AFG2A gene on chromosome 4.

AFG2A is classified as a druggable target with score 0.5.

Genetic testing for AFG2A is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 very common features, 19 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome.

34 publications have been identified in PubMed for microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome. Kisho has analyzed 24 by research type. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (25%).

Recent Publications

• Ates K (2026). [PMID: 42204957](https://pubmed.ncbi.nlm.nih.gov/42204957/). *Dev Neurobiol*. [Review / Meta-Analysis]

• Liedtke D (2026). [PMID: 41959831](https://pubmed.ncbi.nlm.nih.gov/41959831/). *medRxiv : the preprint server for health sciences*. [Case Report / Case Series]

• Nou-Fontanet L (2026). [PMID: 41933351](https://pubmed.ncbi.nlm.nih.gov/41933351/). *Orphanet journal of rare diseases*. [Review / Meta-Analysis]

• Shokouhian E (2026). [PMID: 39847269](https://pubmed.ncbi.nlm.nih.gov/39847269/). *Journal of applied genetics*. [Review / Meta-Analysis]

• Laaraje A (2026). [PMID: 41809613](https://pubmed.ncbi.nlm.nih.gov/41809613/). *Sultan Qaboos Univ Med J*. [Case Report / Case Series]

• Taiber S (2026). [PMID: 42073420](https://pubmed.ncbi.nlm.nih.gov/42073420/). *Life (Basel)*. [Review / Meta-Analysis]

• Möhrle D (2026). [PMID: 41399120](https://pubmed.ncbi.nlm.nih.gov/41399120/). *Autism research : official journal of the International Society for Autism Research*. [Basic Science / Preclinical]

• Noordhuis-Zijderveld A (2025). [PMID: 40484370](https://pubmed.ncbi.nlm.nih.gov/40484370/). *European journal of medical genetics*. [Epidemiology / Natural History]

• Yari A (2025). [PMID: 39607615](https://pubmed.ncbi.nlm.nih.gov/39607615/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]

• Li Y (2025). [PMID: 39912399](https://pubmed.ncbi.nlm.nih.gov/39912399/). *Journal of biosciences*. [Review / Meta-Analysis]