236200.10.2

Country

Saudi Arabia

HPO Terms

Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Osteoporosis; Genu valgum ; Aggressive behavior; Attention deficit hyperactivity disorder; Cerebral dysmyelination

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Sex

Male

Family History

Yes

Subject Variants

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

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Remarks

Patient II-2 from Family 8 in the publication, brother of 236200.10.1

References

Zaidi et al. 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
236200.10.1	Saudi Arabia	Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Osteoporosis; Genu valgum; Inguinal hernia	Male	Yes		Patient II-1 from Family 8 in the publication