236200.G.1

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Hyperhomocystinemia; Disproportionate tall stature; Lens luxation; Thromboembolism; Intellectual disability; Seizure

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000071.3:c.1006C>T	60+	NA	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Group of patients from 30 families that belongs to tribe M and K mentioned in the publication; consanguinity was observed in 80% of patients