autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.
MONDO:0000173
muscular dystrophy-dystroglycanopathy, type C
is_a
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0015286
congenital disorder of glycosylation
is_a
DAG1 autosomal recessive limb-girdle muscular dystrophy
exact
LGMD2P
exact
MDDGC9
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1
exact
limb-girdle muscular dystrophy type 2P
related
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
related