pontocerebellar hypoplasia type 1D

info · Genetic

A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27.

Signs and symptoms

Generalized hypotonia
Global developmental delay
Weak cry
Poor head control
High palate
Axial hypotonia
Generalized muscle weakness
Epicanthus
Flexion contracture
Hypertelorism

Also known as: PCH1D