201910.16

Palestine

Congenital adrenal hyperplasia; Renal salt wasting;

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001128590.3:c.865C>T	1		Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
NM_001128590.3:c.203-13C>G	1		Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency

Compound heterozygote