Conditions / Nervous system
pontocerebellar hypoplasia type 4
info · Nervous system
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
Signs and symptoms
- Hypertonia
- Dysphagia
- Cerebellar hypoplasia
- Seizure
- Feeding difficulties
- Gliosis
- Hypoplasia of the pons
- Loss of Purkinje cells in the cerebellar vermis
- Respiratory failure
- Myoclonus