Condition: Cerebellar vermis atrophy


rs779027563 in CNTNAP1 gene and Cerebellar vermis atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs1557043622 in SLC35A2 gene and Cerebellar vermis atrophy PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

rs748787734 in TUBB4A gene and Cerebellar vermis atrophy PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.