autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.
MONDO:0000173
muscular dystrophy-dystroglycanopathy, type C
is_a
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016184
qualitative or quantitative defects of protein O-mannosyltransferase 1
is_a
MONDO:0700070
myopathy caused by variation in POMT1
is_a
LGMD-POMT1 related
exact
LGMD2K
exact
MDDGC1
exact
POMT1 autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1
exact
limb-girdle muscular dystrophy - intellectual disability
related
limb-girdle muscular dystrophy type 2K
related
limb-girdle muscular dystrophy-intellectual disability syndrome
exact
muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1
exact
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
related
SPBC16C6.09