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.