Conditions / Genetic
pontocerebellar hypoplasia type 2B
info · Genetic
A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.
Signs and symptoms
- Clonus
- Sloping forehead
- Hypoplasia of the brainstem
- Myoclonic seizure
- Cerebral visual impairment
- Single transverse palmar crease
- Axial hypotonia
- Cerebellar vermis hypoplasia
- Opisthotonus
- Progressive microcephaly