Inheritance | Disease phenotype | Key references | Gene symbol (chromosome)
protein |
| XR | Cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) | | |
| XR | Cardiovalvular dysplasia, X-linked (Myxomatous valvular dystrophy) | | | filamin A, alpha (actin binding protein 280)
|
|
| XR | Charcot-Marie-Tooth neuropathy X-linked 2 | | ? - (Xp22.2) |
| XR | Charcot-Marie-Tooth neuropathy X-linked 3 | | ? - (Xq26) |
| XR | Charcot-Marie-Tooth neuropathy X-linked 4 (Cowchock syndrome) | | ? - (Xq24-q26.1) |
| XR | Charcot-Marie-Tooth neuropathy X-linked 5 (with hearing loss and optic neuropathy) | | | phosphoribosyl pyrophosphate synthetase 1
|
|
| XR | Dilated cardiomyopathy due to dystrophin defect | | |
| XR | Dilated cardiomyopathy due to tafazzin defect | | |
| XR | Duchenne/Becker Muscular Dystrophies | | |
| XR | Emery-Dreifuss muscular dystrophy, X-linked , type 1 | | |
| XR | Emery-Dreifuss muscular dystrophy, X-linked , type 2 | | | four and a half LIM domain 1
|
|
| XR | Episodic muscle weakness, X-linked | | ? - (Xp22.3) |
| XR | Glycogen storage disease type IXd (ex type VIII) or muscle phosphorylase kinase defiency | | | phosphorylase b kinase, alpha submit
|
|
| XR | Kennedy disease | | |
| XR | Myopathy with excessive autophagia | | ? - (Xq28) |
| XR | Myotubular myopathy | | |
| XR | Phosphoglycerate kinase deficiency | | | phosphoglycerate kinase 1
|
|
| XR | Spastic paraplegia, X-linked type 16 | | ? - (Xq11.2) |
| XR | Spastic paraplegias, X-linked type 2 | | |
| XR | Spastic paraplegias, X-linked type 1 (MASA syndrome X-linked hydrocephalus) | | | L1 cell adhesion molecule
|
|
| XR | Spinal muscular atrophy, distal, X-linked | | | ATPase, Cu++ transporting, alpha polypeptide
|
|
| XR | X-linked myopathy with postural muscle atrophy | | | four and a half LIM domain 1
|
|
