Autosomal dominant tubulointerstitial kidney disease (ADTKD)  is a group of inherited kidney conditions that pass from parent to child in an autosomal-dominant ...

Autosomal Dominant Tubulointerstitial Cystic Kidney Disease (ADTKD) With or Without Hyperuricemia is a rare, inherited kidney disease that runs in families in ...

Autosomal dominant medullary cystic kidney disease with or without hyperuricemia is a hereditary kidney disease that runs in families in a dominant pattern (a ...

Autosomal dominant macrothrombocytopenia is a lifelong, inherited bleeding condition. “Autosomal dominant” means one changed gene from either parent can cause ...

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 ...

HNRNPDL-related limb-girdle muscular dystrophy is a rare, inherited muscle disease that causes slow, progressive weakness of the muscles around the hips, ...

Autosomal dominant limb-girdle muscular dystrophy caused by pathogenic variants in HNRNPDL (LGMD-D3 / formerly LGMD1G) is a rare, inherited muscle disease that ...

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 Muscular Dystrophy Type 1F (LGMD1F) is a rare, inherited muscle disease that mainly weakens the hip and shoulder muscles (the “limb girdles”). It’s ...

Autosomal Dominant Limb-Girdle Muscular Dystrophy type 1F (LGMD1F) is a rare, inherited muscle disease that mainly weakens the muscles around the hips and ...

Autosomal dominant limb-girdle muscular dystrophy with rimmed vacuoles caused by DNAJB6 mutations (often called LGMDD1 or DNAJB6-related LGMD) is a hereditary ...

Autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6 is a rare, inherited muscle disease. It mostly weakens the “girdle” muscles ...

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 ...

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 ...

Autosomal dominant keratitis (also called hereditary keratitis) is a rare, inherited eye disorder that runs in families. It usually starts in childhood and ...

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 ...

IGHD-II is a rare, inherited form of growth hormone (GH) deficiency. “Autosomal dominant” means a child can have the condition if they inherit a single changed ...

Congenital isolated growth hormone deficiency type II is a genetic condition that mainly affects a child’s growth. “Congenital” means present from birth. ...

Autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency (IGHD type II) is a genetic condition where the pituitary gland does not make ...

Autosomal dominant isolated somatotropin deficiency—often called isolated growth hormone deficiency type II (IGHD-II)—is a genetic condition where the ...