236200.7.1

Saudi Arabia

Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Abducens palsy; Cerebral dysmyelination

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-2 from Family 5 in the publication

Related Subjects

Subject Id	Country	Sex	Family History	Parental Consanguinity	Remarks
236200.7.2	Saudi Arabia	Female	Yes	Yes	Sister of 236200.7.1
236200.7.3	Saudi Arabia	Male	Yes	Yes	Brother of 236200.7.1
236200.7.4	Saudi Arabia	Male			Father of 236200.7.1
236200.7.5	Saudi Arabia	Female			Mother of 236200.7.1