Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a very rare, inherited muscle disease. It runs in families in an autosomal dominant way (one affected parent can pass it on). ...
HNRNPDL-related limb-girdle muscular dystrophy is a rare, inherited muscle disease that causes slow, progressive weakness of the muscles around the hips, thighs, shoulders, and upper arms. It follows ...
Autosomal dominant limb-girdle muscular dystrophy caused by pathogenic variants in HNRNPDL (LGMD-D3 / formerly LGMD1G) is a rare, inherited muscle disease that starts in adulthood for most people and ...
Autosomal dominant limb-girdle muscular dystrophy type 1G is a rare, inherited muscle disease. It mainly weakens the muscles around the hips and shoulders (the “limb-girdle” areas). The condition ...
Limb-Girdle Muscular Dystrophy Type 1F (LGMD1F) is a rare, inherited muscle disease that mainly weakens the hip and shoulder muscles (the “limb girdles”). It’s caused by a change (mutation) in a gene ...
Autosomal Dominant Limb-Girdle Muscular Dystrophy type 1F (LGMD1F) is a rare, inherited muscle disease that mainly weakens the muscles around the hips and shoulders (the “limb-girdle” muscles). It is ...
Autosomal dominant limb-girdle muscular dystrophy with rimmed vacuoles caused by DNAJB6 mutations (often called LGMDD1 or DNAJB6-related LGMD) is a hereditary muscle disease that usually starts in ...
Autosomal dominant limb-girdle muscular dystrophy type 1D due to DNAJB6 is a genetic muscle disease. It usually begins in adulthood. It causes slowly worsening weakness in the muscles around the hips ...
Autosomal dominant lamellar ichthyosis (ADLI) is a rare inherited skin disorder. It causes large, plate-like scales on much of the body from birth or early infancy. The pattern is “autosomal ...
Autosomal dominant keratitis (also called hereditary keratitis) is a rare, inherited eye disorder that runs in families. It usually starts in childhood and mainly affects the clear front window of ...
Autosomal dominant Kenny-Caffey syndrome (often shortened to KCS type 2 or KCS2) is a very rare genetic bone and endocrine condition. People with KCS2 are usually short for their age, have unusual ...
Autosomal dominant isolated somatotropin deficiency is a genetic condition in which the pituitary gland makes too little growth hormone (GH) even though other pituitary hormones are usually normal. ...
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain is a rare, inherited nerve disorder. “Autosomal dominant” means a single changed gene from one parent can cause it. ...
Intermediate Charcot-Marie-Tooth disease is a genetic nerve disorder that mainly affects the long nerves of the legs, feet, hands, and arms. It causes slowly progressive weakness, smaller muscles, ...
Autosomal dominant intermediate Charcot-Marie-Tooth disease (CMT-DI) is an inherited nerve disorder that slowly damages the long peripheral nerves supplying the feet, legs, hands, and arms. ...
KAT6A syndrome is a rare, autosomal-dominant neurodevelopmental disorder caused by harmful (pathogenic) changes in the KAT6A gene, which encodes a histone acetyltransferase that helps switch other ...
Autosomal Dominant Intellectual Disability 32 (ADID-32) is a rare, genetic neurodevelopmental condition caused by changes (variants or “spelling mistakes”) in a gene called KAT6A on chromosome 8 ...
Arboleda-Tham syndrome is a rare genetic condition that affects brain development, learning, speech, growth, facial features, and several organs such as the heart and gut. It happens when a single ...
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a lifelong condition that affects brain development, facial shape, growth, and several organs—especially ...
Hypophosphatemia means the level of phosphate (also called phosphorus, measured as inorganic phosphate in blood) is below the normal range. In most adults, hypophosphatemia is defined as a serum ...
