236200.G.2.1

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Hyperhomocystinemia

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000071.3:c.1006C>T	12	NA	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Group of 6 infants with elevated homocysteine levels

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
236200.G.2.2	Qatar		Unknown			Group of 225 infants (heterozygous carriers)
236200.G.2.3	Qatar		Unknown			Group of 14 infants (heterozygous carriers)