236200.13

Country

Saudi Arabia

HPO Terms

Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Scoliosis; Aspiration; Hemiplegia; Seizure; Attention deficit hyperactivity disorder; Stroke; Cerebral venous thrombosis

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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

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Remarks

Patient II-1 from Family 11 in the publication

References

Zaidi et al. 2012