145900.2

United Arab Emirates

Scoliosis; Sensorineural hearing impairment; Thenar muscle atrophy; Pes cavus; Areflexia

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_181882.2:c.1090C>T	2		Hypertrophic Neuropathy of Dejerine-Sottas