Additional Disease Briefs

X-linked Mendelian susceptibility to mycobacterial diseases

Also known as: X-linked MSMD, mendelian susceptibility to mycobacterial diseases, X-linked

X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

Also known as: CYBB X-linked mendelian susceptibility to mycobacterial diseases, IMD34, X-linked MSMD due to CYBB deficiency, X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB, atypical Mycobacteriosis, familial, X-linked 2, immunodeficiency 34, immunodeficiency 34, Mycobacteriosis, X-linked, immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive, immunodeficiency type 34

X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome

X-linked mixed hearing loss with perilymphatic gusher

Also known as: DFN 3 nonsyndromic hearing loss and deafness, DFN3, DFNX2, Nance deafness, X-linked deafness type 2, X-linked mixed conductive and neurosensory deafness, X-linked mixed conductive and neurosensory hearing loss, X-linked mixed conductive and sensorineural deafness, X-linked mixed conductive and sensorineural hearing loss, X-linked mixed deafness with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher, X-linked stapes gusher syndrome, central hearing loss, conductive deafness with stapes fixation, deafness 3 conductive with stapes fixation, deafness 3, conductive, with stapes fixation, deafness conductive with stapes fixation, deafness mixed with perilymphatic gusher, deafness mixed with perilymphatic gusher, X-linked, deafness, X-linked 2, deafness, X-linked 2, X-linked recessive, deafness, X-linked type 2, deafness, conductive, with stapes fixation, deafness, mixed, with perilymphatic gusher, gusher syndrome, high frequency deafness, high frequency hearing loss, high-frequency hearing loss, perceptive deafness, perceptive hearing loss, perceptive hearing loss or deafness, perilymphatic gusher-deafness syndrome, sensorineural deafness, sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear, sensorineural hearing loss, sensory hearing loss

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