236200.9.1

Country

Saudi Arabia

HPO Terms

Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Flexion contracture; Seizure; Dystonia; Spastic paraplegia; Cerebral dysmyelination

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Sex

Female

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-1 from Family 7 in the publication

References

Zaidi et al. 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Remarks
236200.9.2	Saudi Arabia	Intellectual disability; Hyperhomocystinemia; Hypermethioninemia; Lens subluxation; Scoliosis; Osteoporosis; Osteoarthritis; Restrictive ventilatory defect; Dystonia	Male	Yes	Patient II-2 from Family 7 in the publication, brother of 236200.9.1
236200.9.3	Saudi Arabia		Male		Father of 236200.9.1
236200.9.4	Saudi Arabia		Female		Mother of 236200.9.1