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 your feedback to: pgd@hfea.gov.uk
You can also sign up to our PGD update email alert service which will keep you up to date, on a monthly basis, with information on the latest conditions added to the authorised list and conditions that are awaiting approval about which you can provide comments.
Page last updated: 07 May 2013