pontocerebellar hypoplasia type 16

info · Genetic

A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2.

Signs and symptoms

Delayed fine motor development
Nystagmus
Ventriculomegaly
Axial hypotonia
Spastic tetraplegia
Dysphagia
Absent speech
Cerebellar hypoplasia
Delayed gross motor development
Limb hypertonia

Also known as: PCH16