Cerebellar hypoplasiaGene: STUB1
Usually cerebellar atrophy although hypoplasia reported. Often onset teens/adulthood
Created: 16 Nov 2016, 10:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spinocerebellar ataxia, autosomal recessive 16 615768
22/02/2017: Panel revised after internal clinical review and further curation.
STUB1 was added to Cerebellar hypoplasiapanel. Sources: Literature
STUB1 was created by agardham