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Intellectual disability v3.1548 PLEC Arina Puzriakova Phenotypes for gene: PLEC were changed from Muscular dystrophy with epidermolysis bullosa simplex, 226670; Epidermolysis bullosa simplex, Ogna type, 131950; Epidermolysis bullosa simplex with pyloric atresia, 612138; Muscular dystrophy, limb-girdle, type 2Q, 613723 to Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, OMIM:616487; Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950; Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670; Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138; Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723
Intellectual disability v3.927 PLEC Sarah Leigh Source: Expert Review Amber was removed from gene: PLEC
Intellectual disability PLEC Louise Daugherty commented on PLEC
Intellectual disability PLEC BRIDGE consortium edited their review of PLEC
Intellectual disability PLEC BRIDGE consortium edited their review of PLEC
Intellectual disability PLEC Louise Daugherty classified PLEC as amber
Intellectual disability PLEC Louise Daugherty commented on PLEC
Intellectual disability PLEC BRIDGE consortium reviewed PLEC