236200.16

Saudi Arabia

Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Attention deficit hyperactivity disorder

Male

Yes

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-12 from Family 14 in the publication