Autosomal dominant hereditary hypophosphatemic rickets (ADHR) is a rare, inherited bone-mineral disorder caused by changes (mutations) in a hormone called ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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 ...
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 ...
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency is a genetic condition where the pancreas releases too much insulin, causing low blood ...
Autosomal dominant hyperinsulinism due to SUR1 deficiency is a genetic condition where the pancreas makes too much insulin even when the blood sugar is already ...
Dominant KATP hyperinsulinism due to Kir6.2 deficiency is a genetic condition where the pancreas releases too much insulin, especially when it should not—such ...
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency is a genetic form of congenital hyperinsulinism (HI) in which the pancreatic β-cells ...
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome is a rare inherited condition that weakens the tiny blood vessels (small-vessel disease) and ...
HANAC syndrome is a rare, inherited condition caused by changes (mutations) in the COL4A1 gene. This gene helps your body make type IV collagen, a key building ...
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps (HANAC) is a rare, inherited disorder that affects small blood vessels (the ...
Autosomal dominant familial hematuria–retinal arteriolar tortuosity–contractures syndrome is a rare, inherited condition in which tiny blood vessels are ...
Autosomal Dominant Epilepsy with Auditory Features is a genetic epilepsy in which seizures begin in the side (lateral) part of the temporal lobe—the brain area ...
Autosomal dominant epidermolytic ichthyosis (EI), formerly called epidermolytic hyperkeratosis or bullous congenital ichthyosiform erythroderma, is a genetic ...
Autosomal dominant distal kidney tubular acidosis (AD-dRTA) is a rare inherited condition where the last part of the kidney tubules (the “distal” tubules) ...
Autosomal Dominant Distal Axonal Motor Neuropathy–Myofibrillar Myopathy (AD dAMN–MFM) Syndrome is an inherited kidney disorder where the last part of the ...
