Variant: rs587777248

present in Gene: WWOX present in Chromosome: 16 Position on Chromosome: 78108475 Alleles of this Variant: C/A;T

rs587777248 in WWOX gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 PMID 24456803 2014 The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

rs587777248 in WWOX gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 PMID 24456803 2014 The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.