Conditions / Genetic
pontocerebellar hypoplasia type 1B
info · Genetic
A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.
Signs and symptoms
- Poor head control
- Strabismus
- Cerebellar atrophy
- Flexion contracture
- Generalized hypotonia
- Tongue atrophy
- Nystagmus
- Oculomotor apraxia
- Tongue fasciculations
- Muscle weakness