Additional Disease Briefs

Rare Disease Database Reports Additional Rare Disease Briefs

X-linked myopathy with postural muscle atrophy

Also known as: Ehlers-Danlos syndrome, classic-like, 1, Emery-Dreifuss muscular dystrophy 6, X-linked, X-linked myopathy with postural muscle atrophy, XMPMA, myopathy, X-linked, with postural muscle atrophy, myopathy, X-linked, with postural muscle atrophy, X-linked recessive

X-linked myotubular myopathy-abnormal genitalia syndrome

Also known as: Xq28 contiguous gene deletion syndrome, myotubular myopathy with abnormal genital development

X-linked neurodegenerative syndrome, Bertini type

X-linked neurodegenerative syndrome, Hamel type

X-linked non progressive cerebellar ataxia

Also known as: SCAX5, X-linked spinocerebellar ataxia type 5, spinocerebellar ataxia, X-linked 5, spinocerebellar ataxia, X-linked 5, X-linked recessive

X-linked nonsyndromic hearing loss

Also known as: X-linked deafness, X-linked isolated neurosensory deafness type DFN, X-linked isolated neurosensory hearing loss type DFN, X-linked isolated sensorineural deafness type DFN, X-linked isolated sensorineural hearing loss type DFN, X-linked non-syndromic neurosensory deafness type DFN, X-linked non-syndromic neurosensory hearing loss type DFN, X-linked non-syndromic sensorineural deafness type DFN, X-linked non-syndromic sensorineural hearing loss type DFN, X-linked nonsyndromic deafness, X-linked nonsyndromic genetic deafness, nonsyndromic deafness, X-linked, nonsyndromic genetic deafness, X-linked