Disease Directory

Autosomal recessive inherited pseudoxanthoma elasticum is a multisystem condition that primarily affects the skin, eyes, and cardiovascular system. It...

Autosomal recessive intermediate Charcot-Marie-Tooth disease is an extremely rare condition. Because few cases have been documented, detailed clinical...

Autosomal recessive juvenile Parkinson disease 2 is a group of disorders characterized by impaired motor control including bradykinesia, rigidity, tre...

autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is an extremely rare condition. Because few cases have been docu...

Autosomal recessive limb-girdle muscular dystrophy is an extremely rare condition. Because few cases have been documented, detailed clinical informati...

Autosomal recessive limb-girdle muscular dystrophy type 2A is a form of muscular dystrophy that primarily affects the muscles around the shoulders and...

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a genetic muscle disorder that primarily weakens the large muscles around the h...

Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a neuromuscular condition that primarily weakens the muscles around the hips an...

Autosomal recessive limb-girdle muscular dystrophy type 2D is a muscular disorder that primarily affects the shoulder and pelvic girdle muscles, leadi...

Autosomal recessive limb-girdle muscular dystrophy type 2E is a neuromuscular condition characterized by progressive weakness of the pelvic and should...

Autosomal recessive limb-girdle muscular dystrophy type 2F is a condition that primarily affects the muscles around the shoulders and hips, leading to...

Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a subtype of limb-girdle muscular dystrophy characterized by muscle weakness an...

Autosomal recessive limb-girdle muscular dystrophy type 2H is a mild form of muscular dystrophy caused by changes in the TRIM32 gene that affect norma...

Autosomal recessive limb-girdle muscular dystrophy type 2I is a subtype of muscular dystrophy characterized by slowly progressive weakness of the pelv...

Autosomal recessive limb-girdle muscular dystrophy type 2J is a condition that primarily affects the skeletal muscles, particularly those in the limb-...

Autosomal recessive limb-girdle muscular dystrophy type 2K is a genetic muscle disorder that primarily weakens the muscles around the hips and shoulde...

Autosomal recessive limb-girdle muscular dystrophy type 2L is a condition affecting the muscles, particularly those around the hips and shoulders. It...

Autosomal recessive limb-girdle muscular dystrophy type 2M is a neuromuscular disorder characterized by muscle weakness primarily affecting the limb-g...

Autosomal recessive limb-girdle muscular dystrophy type 2N is a condition affecting the skeletal muscles, particularly those around the hips and shoul...

Autosomal recessive limb-girdle muscular dystrophy type 2O is a condition affecting the skeletal muscles, particularly those of the shoulder and hip g...