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DefinitionAutosomal recessive spinocerebellar ataxia?-21 with hepatopathy (often abbreviated SCAR21) is a very rare genetic? disorder caused by harmful changes (mutations) in both copies of a gene...
DefinitionAutosomal recessive spinocerebellar ataxia?–blindness–hearing-loss syndrome? is a rare genetic? brain-nerve disorder. Children usually start life looking healthy, then develop problems with balance and coordination (ataxia). Over...
DefinitionAutosomal recessive spondylo-epi-metaphyseal dysplasia is a rare inherited? bone-growth disorder. “Spondylo-” means the spine is involved. “Epimetaphyseal” means the rounded ends of the long bones (epiphyses)...
DefinitionAutosomal recessive spondylometaphyseal dysplasia, Mégarbané type (often shortened to SMD-MDM or Mégarbané type) is a very rare genetic? bone disorder. A baby is affected from before...
DefinitionAutosomal Recessive Stargardt-like Macular Dystrophy (AR-SD) is a rare genetic? disorder that affects the retina?, causing progressive vision loss. Here, we’ll delve into what this condition...
DefinitionAutosomal recessive syndromic cerebellar ataxia? caused by mutation in SYT14 (SCAR11) is a rare, inherited? brain disorder that mainly affects the cerebellum?, the part of the...
DefinitionAutosomal recessive syndromic multiple cataract 11 (CTRCT11) is a rare inherited? eye disease where a child is born with cloudy lenses in both eyes (congenital? cataracts)...
DefinitionAutosomal semi-dominant severe? lipodystrophic laminopathy is a rare inherited? disorder in which body fat is abnormally lost in some regions and may be preserved or increased...
DefinitionAutosomal sideroblastic anemia? is a type of inherited? blood disorder where the body has trouble making enough healthy red blood cells. These cells are responsible for...
DefinitionAutosomal systemic lupus erythematosus? type 16 is a rare, inherited? kind of lupus?. Doctors often shorten the name to SLEB16. It happens when a person is...
DefinitionAutosomal-dominant or late-onset? type Pelizaeus-Merzbacher disease is a rare, inherited?, adult-onset white-matter disease of the brain and spinal cord? caused by extra copies or over-activity of the...
