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