Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. Disease data Classification Disease Synonyms Autosomal recessive limb-girdle muscular dystrophy type 2T LGMD2T GMPPB-related LGMD R19 LGMD type 2T LGMD2T Limb-girdle muscular dystrophy type 2T ORPHA code 363623 OMIM code 615352 ICD10 code G71.2 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl