pontocerebellar hypoplasia type 1F

info · Genetic

A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1.

Signs and symptoms

Hyporeflexia
Cerebral atrophy
Microcephaly
Delayed CNS myelination
Long philtrum
Strabismus
Cerebellar hypoplasia
Anteverted nares
Hypoplasia of the corpus callosum
Hypotonia

Also known as: PCH1F