pontocerebellar hypoplasia type 2F

info · Genetic

A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3.

Signs and symptoms

Progressive microcephaly
Delayed speech and language development
Cerebellar hypoplasia
Global developmental delay
Delayed fine motor development
Extra-axial cerebrospinal fluid accumulation
Hypoplasia of the pons
Intellectual disability
Delayed gross motor development
Irritability

Also known as: PCH2F