Genetic condition awaiting consideration - Pontocerebellar hypoplasia type 1B (PCH1B)
Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurological disorder characterised by a combination of cerebellar and spinal motor neuron degeneration beginning at birth.
There is diffuse muscle weakness, progressive microcephaly, global developmental delay and brainstem involvement leading to death in infancy or childhood.
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 07 May 2013