Variant: rs767633598 

    present in Gene: UNC80
    present in Chromosome: 2
    Position on Chromosome: 209817086
    Alleles of this Variant: C/A;T

rs767633598 in UNC80 gene and Hypotonia, speech impairment, severe cognitive delay syndrome PMID 26708753 2016 Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

PMID 26708751 2016 Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.