Autosomal Recessive Cerebellar Ataxia due to GBA2 Deficiency is a rare inherited brain and nerve disorder in which both copies of a person’s GBA2 gene don’t ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autosomal recessive cerebellar ataxia with late-onset spasticity (often shortened to ARCA-LOS) is a rare inherited brain and nerve disorder. “Cerebellar ...
Autosomal recessive cerebellar ataxia–pyramidal signs–nystagmus–oculomotor apraxia syndrome (ARCA-PS-N-OMA) is a very rare, inherited brain disorder. ...
Autosomal recessive centronuclear myopathy (AR-CNM) is a rare genetic muscle disease. It weakens the skeletal muscles of the body (the muscles you use to move ...
Brachyolmia, Hobaek/Toledo type is a rare genetic bone condition that mainly affects the spine. Children usually look normal at birth and in early life, but as ...
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 ...
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 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 ...
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 ...
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 ...
COL4A4-related Alport syndrome and thin basement membrane nephropathy (TBMN are genetic conditions that affect the kidney’s filter (the glomerular basement ...
Autosomal recessive Alport syndrome 2 (ARAS2) is a genetic kidney disease caused by harmful changes in the COL4A4 gene. This gene helps make type IV collagen, ...
Autosomal recessive Alport syndrome is an inherited kidney disease caused by changes (variants) in the COL4A3 or COL4A4 genes. These genes make parts of type ...
Autosomal erythropoietic protoporphyria (EPP) is a rare, inherited blood and skin disorder. It happens because the body cannot finish making heme, the ...
Dermodistortive urticaria—often shortened to DDU—is a rare “physical urticaria.” It means the skin makes quick, itchy swellings (hives/wheals) exactly where ...
Trüeb–Burg–Bottani syndrome refers to a genetic disorder affecting body parts that come from the outer embryonic layer (the ectoderm)—especially hair, teeth, ...
