236200.15.1

Country

Saudi Arabia

HPO Terms

Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Osteoporosis; Peripheral neuropathy; Attention deficit hyperactivity disorder; Varicose veins; Vascular tortuosity; Abnormal nerve conduction velocity

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000071.3:c.457G>A	2	NA	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

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Remarks

Patient II-1 from Family 13 in the publication

References

Zaidi et al. 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
236200.15.2	Saudi Arabia	Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Attention deficit hyperactivity disorder; Precocious puberty	Male	Yes	Yes	Patient II-3 from Family 13 in the publication, brother of 236200.15.1
236200.15.3	Saudi Arabia		Male			Father of 236200.15.1
236200.15.4	Saudi Arabia		Female			Mother of 236200.15.1