Molecular autopsy
Gene: LARGE1Added phenotypes N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) for gene: LARGE1
gene: LARGE1 was added gene: LARGE1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARGE1 were set to 27604308 Phenotypes for gene: LARGE1 were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6