Conditions / Genetic
pontocerebellar hypoplasia type 2A
info · Genetic
A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
Signs and symptoms
- Progressive microcephaly
- Dysphagia
- Visual impairment
- Dystonia
- Chorea
- Seizure
- Hypoplasia of the pons
- Restlessness
- Feeding difficulties in infancy
- Abnormal periventricular white matter morphology