Condition: Abnormality of the cerebellum


rs1554944271 in DEAF1 gene and Abnormality of the cerebellum PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

rs63750687 in PSEN1 gene and Abnormality of the cerebellum PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.