Cerebellar hypoplasiaGene: PMPCA
Only reported in a small number of families. Can have childhood onset. Cerebellar hypoplasia and atrophy reported
Created: 16 Nov 2016, 10:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spinocerebellar ataxia, autosomal recessive 2 213200 AR
22/02/2017: Panel revised after internal clinical review and further curation.
This gene has been classified as Red List (Low Evidence).
PMPCA was added to Cerebellar hypoplasiapanel. Sources: Literature
PMPCA was created by agardham