Autosomal recessive brachyolmia is a rare genetic bone disorder. The spine is the main area involved. People have a short trunk, mild short height, and flat ...

Retinopathy, Burgess-Black type is a rare, inherited eye disease caused by harmful changes (mutations) in both copies of a gene called BEST1. This gene helps ...

Bestrophinopathy is an umbrella term for several inherited eye conditions caused by changes (variants) in a gene called BEST1. This gene helps retinal pigment ...

Autosomal recessive bestrophinopathy (ARB) is a rare, inherited eye disease. It happens when a child receives two faulty copies of a gene called BEST1—one from ...

Myokymia means small, involuntary muscle movements that look like a gentle, wavy ripple under the skin. People often feel or see a fine twitch. It is most ...

Gamstorp-Wohlfart syndrome is a rare, inherited nerve disorder. It mainly affects the long nerves that carry signals from the spinal cord to the muscles (motor ...

Autosomal recessive neuromyotonia and axonal neuropathy is a rare, inherited nerve disease. It starts in childhood or the teen years. It damages the axons (the ...

Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia (AR-CMT2-N) is a rare, inherited nerve disease. It mainly damages the long ...

Autosomal recessive axonal neuropathy with neuromyotonia is a rare, inherited nerve disease. It starts when both copies of a person’s HINT1 gene carry harmful ...

Autosomal recessive axonal Charcot-Marie-Tooth disease due to a copper-metabolism defect is a very rare inherited nerve disease. It mainly damages the long ...

Spinocerebellar ataxia, autosomal recessive type 8 (SCAR8) is a rare, inherited brain disorder. It mainly affects the cerebellum, the part of the brain that ...

Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a rare, inherited brain condition that mainly affects the cerebellum, the part of the brain that ...

Autosomal recessive ataxia, Beauce type is a rare, inherited brain condition that mainly affects the cerebellum, the part of the brain that controls ...

CABC1-related CoQ10 deficiency is a rare, inherited disease where the body cannot make enough coenzyme Q10, a small molecule that helps cells make energy ...

Autosomal recessive spinocerebellar ataxia type 9 (SCAR9) is a rare inherited brain disorder that mainly affects the cerebellum, the part of the brain that ...

Autosomal recessive ataxia due to CoQ10 deficiency is a rare, inherited brain and muscle energy problem. Your body makes CoQ10 to help mitochondria (the cell’s ...

Autosomal recessive cerebellar ataxia type 2 (ARCA2) is a rare, inherited brain disorder. It happens when both copies of a gene called COQ8A (also known as ...

Autosomal recessive ataxia due to ubiquinone deficiency is a genetic, inherited condition in which the body cannot make enough coenzyme Q10 (CoQ10, also called ...

Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome is a very rare, severe condition seen before birth or at delivery. “Posterior amelia” means ...

Autosomal recessive amelia means a baby is born without one limb or several limbs because both parents silently carried the same nonworking gene and each ...