Cerebellar hypoplasiaGene: BRF1
Mutations identified in affected relatives in three different families. Supported by animal model evidence
Created: 14 Nov 2016, 12:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cerebellofaciodental syndrome 616202
22/02/2017: Panel revised after internal clinical review and further curation.
BRF1 was added to Cerebellar hypoplasiapanel. Sources: Literature
BRF1 was created by agardham