Cernunnos-XLF Deficiency
Cernunnos-XLF deficiency is a very rare inherited disease that affects the immune system and brain growth. It happens when there are harmful changes (mutations) in a...
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Cernunnos-XLF deficiency is a very rare inherited disease that affects the immune system and brain growth. It happens when there are harmful changes (mutations) in a...
Sterol 27-hydroxylase deficiency is a rare genetic disease where a gene called CYP27A1 does not work properly. This gene makes an enzyme that helps turn cholesterol...
Cerebrotendinous xanthomatosis (often shortened to CTX) is a rare inherited disease that affects how the body turns cholesterol into bile acids. Because of a gene problem,...
Non-progressive cerebellar ataxia with intellectual disability is a rare genetic brain condition. It mainly affects the cerebellum, the part of the brain that controls balance, coordination,...
Progressive cerebellar ataxia with hypogonadism is a very rare genetic brain and hormone disorder. It mainly affects the cerebellum (the part of the brain that controls...
Cerebellar ataxia with hypogonadotropic hypogonadism means two main problems happen together. First, cerebellar ataxia: the cerebellum is the “balance and coordination” part of the brain, and...
Cerebellar ataxia–hypogonadism syndrome is a rare, usually inherited condition where a person has cerebellar ataxia (poor balance and poor coordination because the cerebellum is not working...
Cerebellar ataxia co-occurrent with ectodermal dysplasia, also called cerebellar ataxia-ectodermal dysplasia syndrome, is a very rare genetic condition where a person has both a brain balance...
Cerebellar ataxia-ectodermal dysplasia syndrome is a very rare genetic condition that affects both the brain (especially the cerebellum) and ectodermal structures, such as hair and teeth....
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome is a very rare inherited brain and nerve disorder. Doctors often call it CAPOS syndrome (from the first letters of...
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome is usually called CAPOS syndrome. It is a very rare genetic brain and nerve disorder. It affects balance and...
Cerebellar ataxia with bilateral vestibular syndrome means that two balance systems are damaged at the same time. The first system is the cerebellum, a part of...