118100.1

Yemen

Sensorineural hearing impairment; Ataxia; Peripheral neuropathy

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001001557.4:c.1304C>T	1		Klippel-Feil Syndrome 1, Autosomal Dominant

Patient from 'family 11' in the publication. Heterozygous variant identified in this patient was inherited from his asymptomatic mother.