Mutations in ATXN2L gene were reported in only one study to date and appear cause birth defects including:
• Global developmental delay (delay in the developmental milestones of the child (e.g. delayed walking, delayed speaking)
• Macrocephaly (greater-than-normal head )
• Moderate intellectual disability
Other possibly associated features include:
• Short stature
• Deformities in the shape of the face, including a high forehead and scant eyebrows
• Decreased muscle tone (hypotonia)
CT and MRI of the reported patient revealed abnormal findings, but further studies are needed to establish an association.
ATXN2L