Conditions / Nervous system
pontocerebellar hypoplasia type 6
info · Nervous system
A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.
Signs and symptoms
- Generalized hypotonia
- Failure to thrive
- Feeding difficulties
- Profound global developmental delay
- Cerebellar atrophy
- Poor suck
- Decreased activity of mitochondrial complex I
- Decreased activity of mitochondrial complex IV
- Apnea
- Poor head control