Eleanor Williams Added comment: Comment on mode of inheritance: Updating the MOI to X-LINKED: hemizygous mutation in males, biallelic mutations in females. This MOI has proposed by an expert reviewer and agrees with that found in OMIM. PMID: 15001591 - reports only male cases with ANOS1 variants, with female carriers, PMID: 11297579 - reports male cases and states that obligate female carriers in families with KAL mutations have no discernible phenotype.
Eleanor Williams Mode of inheritance for gene: ANOS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females