236200.1

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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.700G>A	2	NA	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Patient from tribe S in the publication