236200.4.1

Country

Saudi Arabia

HPO Terms

Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Vascular tortuosity; Seizure; Aggressive behavior; Cerebral dysmyelination

Back to search Result

Sex

Male

Family History

Subject Variants

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

Download Table

Remarks

Patient II-1 from Family 2 in the publication

References

Zaidi et al. 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
236200.4.2	Saudi Arabia		Male			Father of 236200.4.1
236200.4.3	Saudi Arabia		Female			Mother of 236200.4.1