236200.10.1

Saudi Arabia

Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Osteoporosis; Genu valgum; Inguinal hernia

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000071.3:c.1006C>T	2	NA	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Patient II-1 from Family 8 in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
236200.10.2	Saudi Arabia	Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Osteoporosis; Genu valgum ; Aggressive behavior; Attention deficit hyperactivity disorder; Cerebral dysmyelination	Male	Yes		Patient II-2 from Family 8 in the publication, brother of 236200.10.1