236200.12

Saudi Arabia

Hyperhomocystinemia; Hypermethioninemia; Avascular necrosis of the capital femoral epiphysis

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000071.3:c.969G>A	2	NA	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Patient IV-7 from Family 10 in the publication