Alzahrani et al. recently identified a de novo ATXN2L variant in a child with global developmental delay, moderate intellectual disability, and macrocephaly. Additionally, the child was of short stature and normal weight.
Physical examination revealed facial dysmorphism, including a high forehead, scant eyebrows, depressed nasal bridge. Right hemihypertrophy and central hypotonia were also noted.
CT and MRI at 21 months and 23 months, respectively, showed dilated lateral and third ventricles, normal fourth ventricle, and cerebellar tonsils approaching the level of foramen magnum.
ATXN2L