So far, only a single individual with a homozygous mutation in the ACY3 gene has been reported and showed the clinical features listed. However, not all individuals with a mutation in the ACY3 gene need to present with the indicated features.
ACY3ACY3So far, only a single individual with a homozygous mutation in the ACY3 gene has been reported and showed the clinical features listed. However, not all individuals with a mutation in the ACY3 gene need to present with the indicated features.