236200.11

Saudi Arabia

Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Scoliosis; Osteoporosis; Sclerodactyly; Tremor; Type I diabetes mellitus

Male

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 II-1 from Family 9 in the publication