Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency is a rare, inherited muscle disease. It mainly weakens the muscles around the hips, thighs, shoulders, and upper arms (the “limb ...
Gamma-sarcoglycanopathy is a genetic muscle disease caused by harmful changes (variants) in the SGCG gene. This gene helps make γ-sarcoglycan, one piece of a protein “shield” that protects muscle ...
Young-onset PRKN-parkinsonism is a form of Parkinson’s disease (PD) that starts at a young age—often before 40—and is caused by harmful changes (pathogenic variants) in both copies of the PRKN gene. ...
PRKN young-onset Parkinson disease is a form of Parkinson’s that usually starts before age 40 (often in the teens or 20s) due to changes in the PRKN (parkin) gene. It causes the classic Parkinson ...
Parkin type of early-onset Parkinson disease is a form of Parkinson’s that happens when both copies of a gene called PRKN (also written PARK2) do not work properly. PRKN makes a protein called ...
Autosomal recessive juvenile Parkinson disease 2 is a genetic type of Parkinson’s disease that starts very young—often in the teens or early adulthood. It happens when a child inherits two ...
Infantile-onset hypercalcemia is a rare condition where babies and young children have too much calcium in the blood. The two main genetic causes are changes in the CYP24A1 gene (IIH type 1) and the ...
Hypercalcemia means there is too much calcium in the blood. In infants, this is dangerous because small bodies cannot handle high calcium well. Calcium helps muscles, nerves, heart rhythm, bones, and ...
Autosomal recessive infantile hypercalcemia is a rare genetic disease that makes blood calcium high in babies and sometimes in older children or adults. Two main gene problems cause it. The first is ...
Autosomal recessive hereditary hypophosphatemic rickets (ARHR) is a rare, inherited bone disease. In this condition, the kidneys lose too much phosphate in the urine. Phosphate is a mineral your ...
Autosomal recessive hypophosphatemic vitamin-D-refractory rickets (ARHR) is a rare inherited bone disease. It lowers the blood level of phosphate, a mineral needed to make strong bones and teeth. The ...
Hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, inherited bone and kidney disorder. The kidneys spill too much phosphate into urine (phosphate wasting). Because phosphate is low in ...
Hypercalciuric hypophosphatemic rickets (HHRH) is a rare inherited disorder where the kidneys lose too much phosphate in the urine. Low blood phosphate makes growing bones soft and weak (rickets in ...
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, inherited condition that makes the kidneys lose too much phosphate in the urine. Because phosphate is lost, the level of ...
Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency is a rare, inherited condition in which a baby or child has too much insulin in the blood even when blood sugar is low. The ...
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency is a genetic condition where a baby’s pancreas makes too much insulin from birth. “Autosomal recessive” means the child inherits a faulty ...
Autosomal recessive frontotemporal pachygyria is a rare brain-development condition. “Pachygyria” means the brain’s surface has few, broad folds instead of many small ones. “Frontotemporal” means ...
Autosomal recessive epidermolytic ichthyosis (AREI) is a very rare inherited skin disorder. Babies are usually born with red skin and fragile skin that blisters and peels easily. Over time, thick ...
PINK1 type of young-onset Parkinson disease is a genetic form of Parkinson disease that usually begins in young adults (often in the 20s–30s). It is caused by harmful changes (pathogenic variants) in ...
Parkinson’s disease caused by PINK1 mutation (PINK1-PD) is a genetic form of Parkinson’s that usually starts early in adult life. “PINK1” is a gene that helps damaged mitochondria get removed and ...
