Features include always present findings: Hearing loss (hearing impairment) and Cochlear nerve hypoplasia; and common findings: Tinnitus and Unsteady gait. 13 total HPO annotations.

AIFM1 encodes apoptosis inducing factor mitochondria associated 1 (613 aa). Functions both as NADH oxidoreductase and as regulator of apoptosis. Highest expression in Adrenal Gland (62.8 TPM) and Cells EBV-transformed lymphocytes (58.3 TPM).

X-linked hereditary sensory and autonomic neuropathy with hearing loss is caused by mutations in the AIFM1 gene on chromosome X.

AIFM1 is classified as a druggable target (Druggable Genome category) with score 5.2.

Genetic testing for AIFM1 is available. Testing is considered confirmatory for diagnosis.

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

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