autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is 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.
MONDO:0000173
muscular dystrophy-dystroglycanopathy, type C
is_a
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0700084
myopathy caused by variation in GMPPB
is_a
GMPPB autosomal recessive limb-girdle muscular dystrophy
exact
LGMD-GMPPB related
exact
LGMD2T
exact
MDDGC14
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB
exact
limb-girdle muscular dystrophy type 2T
related
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
related
SPCC1906.01