Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a very rare, inherited immune disorder present from infancy. Children are born with chronically low neutrophils—the white ...
Autosomal recessive secondary polycythemia, non-Chuvash type, is a rare, inherited condition where the body makes too many red blood cells because its “oxygen-sensing” chemistry is set wrong. ...
Autosomal recessive secondary erythrocytosis, non-Chuvash type means the number of red blood cells (RBCs) is higher than normal. This makes the blood thicker. Thick blood can move more slowly and can ...
Autosomal recessive secondary polycythemia is a rare group of conditions where the body makes too many red blood cells (RBCs) because the tissues are sensing low oxygen or signaling for more ...
Osteopetrosis-hypogammaglobulinemia syndrome is a rare, inherited condition in which bones become abnormally dense and hard (osteopetrosis) while the immune system, especially the antibody-producing ...
Escobar variant multiple pterygium syndrome is a rare, inherited condition that starts before birth. Babies develop webbing of the skin (pterygia) across large joints (for example, neck, armpits, ...
Autosomal recessive limb-girdle muscular dystrophy type 2N is a rare, inherited muscle disease caused by harmful changes in a gene called FKRP (fukutin-related protein). This gene helps add special ...
Anoctamin-5–related limb-girdle muscular dystrophy R12 (LGMDR12) is a genetic muscle disease. It happens when a person inherits two faulty copies of a gene called ANO5. The ANO5 gene makes a protein ...
ANO5-related limb-girdle muscular dystrophy is a genetic muscle disease. It happens when a person inherits two faulty copies of the ANO5 gene (one from each parent). The ANO5 gene makes a protein ...
Titin-Related Limb-Girdle Muscular Dystrophy R10 (LGMDR10, TTN-related) is a rare, inherited muscle disease. It mainly weakens the large muscles around the hips and shoulders (the “limb girdles”). It ...
Telethoninopathy is a rare inherited muscle disease caused by harmful changes (pathogenic variants) in the TCAP gene, which makes a small protein called telethonin (also known as titin-cap or T-cap). ...
Limb-Girdle Muscular Dystrophy Due to Delta-Sarcoglycan Deficiency is a rare, inherited muscle disease. It happens when changes (mutations) in a gene called SGCD stop the body from making a working ...
Limb-girdle muscular dystrophy from beta-sarcoglycan (SGCB) deficiency is a genetic muscle disease. It weakens the muscles close to the shoulders and hips first (the “limb-girdle” muscles). The ...
Autosomal recessive limb-girdle muscular dystrophy type 2E (LGMD2E), now called LGMDR4 (beta-sarcoglycan–related), is a rare genetic muscle disease. It weakens the big muscles around the hips and ...
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency is a genetic muscle disease that mostly weakens the muscles around the hips and shoulders. It happens when there are harmful changes ...
Sarcoglycanopathies are a group of inherited muscle diseases that mainly weaken the shoulder and hip muscles (the “limb-girdle” muscles). They happen when one of four proteins—alpha-, beta-, gamma-, ...
Duchenne-like autosomal recessive muscular dystrophy type 2 is a genetic muscle disorder. It weakens the muscles around the hips and shoulders first (the “limb-girdle” muscles). The problem comes ...
Alpha-sarcoglycanopathy is a rare, inherited muscle-wasting disease caused by biallelic (recessive) mutations in the SGCA gene, which encodes the α-sarcoglycan protein. α-Sarcoglycan sits in the ...
Alpha-sarcoglycan–related limb-girdle muscular dystrophy R3 is a rare, inherited muscle disease caused by harmful changes (variants) in the SGCA gene. SGCA makes alpha-sarcoglycan, a protein that ...
Severe childhood autosomal recessive muscular dystrophy, North African type, is a genetic muscle disease that usually starts in early childhood. It makes the muscles around the hips and shoulders ...
