Autosomal recessive spastic paraplegia type 69 (SPG69) is a rare, inherited neurological disease in the hereditary spastic paraplegia (HSP) family. HSPs are ...

Autosomal Recessive Spastic Paraplegia type 67 (SPG67) is a very rare, inherited nerve disease. It mainly makes the legs stiff and weak over time. Doctors call ...

Autosomal recessive spastic paraplegia type 66 (SPG66) is a rare, inherited neurological disorder in the large family of hereditary spastic paraplegias (HSPs). ...

Autosomal Recessive Spastic Paraplegia type 60 (SPG60) is a very rare genetic nerve disorder. It mainly affects the long nerve tracts that run from the brain ...

Autosomal recessive spastic paraplegia type 59 (SPG59) is a very rare inherited nerve disease. It mainly affects the long nerves that carry movement signals ...

Autosomal recessive sideroblastic anemia (AR-CSA) is an inherited blood disease where the bone marrow makes red blood cells that cannot use iron properly. The ...

Severe Congenital Neutropenia 6 (SCN6) is a rare, inherited immune disorder present from birth. The white blood cells called neutrophils—which fight bacteria ...

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, inherited immune disorder. Babies are born with very low numbers of ...

Superficial venous angiectasis describes abnormally widened (ectatic) small veins and venules close to the skin surface. You can see them as thin red-blue ...

Severe Congenital Neutropenia–Pulmonary Hypertension–Superficial Venous Angiectasis Syndrome are born baby with very low neutrophils (a key white blood cell), ...

Severe congenital neutropenia type 4 is a rare, inherited immune disorder. Babies are born with very low numbers of neutrophils, which are white blood cells ...

Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a rare, inherited condition. A baby is ...

Autosomal Recessive Severe Congenital Neutropenia (SCN) due to G6PC3 Deficiency is a genetic condition present from birth that causes very low numbers of ...

Autosomal recessive severe congenital neutropenia (SCN) due to C-X-C motif chemokine receptor 2 (CXCR2) deficiency is a very rare, inherited immune disorder. ...

Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a very rare, inherited immune disorder present from infancy. Children are born ...

Autosomal recessive severe congenital neutropenia (SCN) due to CSF3R deficiency is a very rare, inherited immune disorder. Babies are born with very low ...

Autosomal recessive secondary polycythemia, non-Chuvash type, is a rare, inherited condition where the body makes too many red blood cells because its ...

Autosomal recessive secondary erythrocytosis, non-Chuvash type means the number of red blood cells (RBCs) is higher than normal. This makes the blood thicker. ...

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 ...

ROR2-related Robinow syndrome is a rare genetic condition present from birth. It mainly affects bone growth, the face, the spine, the arms and legs, the teeth, ...