POMGNT1-related limb-girdle muscular dystrophy R15

Orpha code: 206564OMIM code: 613157

Definicja

A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.

Disease data
Klasyfikacja

Disease

Synonimy
Autosomal recessive limb-girdle muscular dystrophy type 2O
LGMD2O
LGMD type 2O
LGMD2O
Limb-girdle muscular dystrophy type 2O
POMGNT1-related LGMD R15
Kod ORPHA
206564
Kod OMIM
613157
Kod ICD10
G71.0
Kod ICD11
-

No additional description.

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