ATXN2L

Professionals

Clinical features
Mutations in ATXN2L may cause a macrocephaly associated with global developmental delay

Prevalence
The prevalence of ATXN2L-related conditions cannot be ascertained with precision as only one case has been reported to date.

Inheritance
ATXN2L-related multiple congenital anomaly syndrome was reported as a de novo mutation in one patient to date.