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Undiagnosed metabolic disorders v1.632 GALT Arina Puzriakova Phenotypes for gene: GALT were changed from Classical galactosaemia (Disorders of galactose metabolism); Cataracts; Intellectual disability; Galactosemia 230400 to Galactosemia, OMIM:230400
Undiagnosed metabolic disorders v1.453 B4GALT1 Arina Puzriakova Phenotypes for gene: B4GALT1 were changed from Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type IId 607091; Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type IId, OMIM:607091
Undiagnosed metabolic disorders C1GALT1C1 Sarah Leigh marked C1GALT1C1 as ready
Undiagnosed metabolic disorders C1GALT1C1 Sarah Leigh commented on C1GALT1C1
Undiagnosed metabolic disorders GALT Sarah Leigh marked GALT as ready
Undiagnosed metabolic disorders GALT Sarah Leigh classified GALT as green
Undiagnosed metabolic disorders GALT Sarah Leigh edited their review of GALT
Undiagnosed metabolic disorders GALT Sarah Leigh edited their review of GALT
Undiagnosed metabolic disorders GALT Sarah Leigh edited their review of GALT
Undiagnosed metabolic disorders GALT Sarah Leigh reviewed GALT
Undiagnosed metabolic disorders B3GALTL Sarah Leigh added B3GALTL to panel
Undiagnosed metabolic disorders B3GALTL Sarah Leigh reviewed B3GALTL