236200.14

Saudi Arabia

Hyperhomocystinemia; Hypermethioninemia

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-9 from Family 12 in the publication