Conditions / Nervous system
pontocerebellar hypoplasia type 10
info · Nervous system
A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.
Signs and symptoms
- Strabismus
- Enlarged cisterna magna
- Ventriculomegaly
- Low hanging columella
- Constipation
- Hyperreflexia
- Axial hypotonia
- Highly arched eyebrow
- Kyphoscoliosis
- Wide nasal bridge