Corticosterone methyloxidase deficiency is a disorder characterized by the kidneys' inability to effectively absorb salt. Corticosterone methyloxidase deficiency leads

Congenital insensitivity to pain with anhidrosis (CIPA) is an inherited condition characterized by an absence of pain perception and

Congenital disorder of glycosylation (CDG) MPI-related is an inherited metabolic condition that disrupts the production of glycoproteins — proteins

Congenital disorders of glycosylation (CDG) encompass a group of conditions affecting glycosylation, a critical process diversifying protein functions in

Congenital amegakaryocytic thrombocytopenia (CAMT) is a disorder characterized by reduced platelet levels and the absence or reduction of megakaryocytes,

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands, which regulate hormone production in

Combined pituitary hormone deficiency (CPHD), specifically PROP1-related CPHD, is an inherited condition that leads to hormone shortages in the

Alport syndrome is a genetic disorder characterized by progressive kidney disease, hearing impairment, and eye abnormalities. Alport syndrome can

Cohen syndrome is an inherited disorder impacting motor skills, mental development, and behavior. Infants with this condition exhibit slow