A variant on Chromosome 11 in gene LOC126861339, SDHD (BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234| succinate dehydrogenase complex subunit D) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Paragangliomas with sensorineural hearing loss