Autosomal dominant isolated somatotropin deficiency is a genetic condition in which the pituitary gland makes too little growth hormone (GH) even though other ...

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain is a rare, inherited nerve disorder. “Autosomal dominant” means a single ...

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 ...

Autosomal dominant intermediate Charcot-Marie-Tooth disease (CMT-DI) is an inherited nerve disorder that slowly damages the long peripheral nerves supplying ...

KAT6A syndrome is a rare, autosomal-dominant neurodevelopmental disorder caused by harmful (pathogenic) changes in the KAT6A gene, which encodes a histone ...

Autosomal Dominant Intellectual Disability 32 (ADID-32) is a rare, genetic neurodevelopmental condition caused by changes (variants or “spelling mistakes”) in ...

Arboleda-Tham syndrome is a rare genetic condition that affects brain development, learning, speech, growth, facial features, and several organs such as the ...

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a lifelong condition that affects brain development, facial ...

Hypophosphatemia means the level of phosphate (also called phosphorus, measured as inorganic phosphate in blood) is below the normal range. In most adults, ...

Hereditary hypophosphatemic rickets (HHR) is a group of genetic disorders where the kidneys lose too much phosphate in the urine. Low blood phosphate makes ...

Autosomal dominant hypophosphatemia is a rare, inherited problem where the body loses too much phosphate in the urine. Phosphate is a mineral your bones and ...

Autosomal dominant hereditary hypophosphatemic rickets (ADHR) is a rare, inherited bone-mineral disorder caused by changes (mutations) in a hormone called ...

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare, inherited disorder where the kidneys waste phosphate, causing low blood phosphate ...

Hypohidrotic ectodermal dysplasia is a rare genetic condition that affects body parts that come from the outer layer of the embryo (the ectoderm). These parts ...

Autosomal dominant hypohidrotic ectodermal dysplasia is a rare, inherited condition that mainly affects body parts made from the outer layer of the embryo (the ...

Autosomal dominant anhidrotic/hypohidrotic ectodermal dysplasia (AD-HED) is a lifelong, inherited condition that mainly affects body parts that grow from the ...

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia (AD-HED) is a rare, inherited condition that affects body parts that grow from the outer layer of the ...

Familial hypocalcemia is a rare, inherited condition where the body keeps blood calcium too low even when the person eats and absorbs enough calcium. It ...

Autosomal Dominant Hypocalcemia (ADH) is a genetic disorder where the body’s calcium-sensing pathway is overly sensitive. The parathyroid glands “think” blood ...

Autosomal Dominant Hyperinsulinism Due to Sulfonylurea Receptor-1 (SUR1/ABCC8) Deficiency is a rare genetic condition where the pancreas releases too much ...