chromosome | gene symbol | phenotype |
| Xp21.2 | DMD dystrophin | Becker muscular distrophy -BMD
Cardiomyopathy, dilated, X-linked -XLCM
Cardiomyopathy, Dilated, 3B -CMD3B
Duchenne muscular dystrophy -DMD
|
| Xp22.2 | ? | charcot-marie-tooth disease, x-linked recessive, 2 -CMTX2
|
| Xp22.3 | ? | episodic muscle weakness, x-linked -EMWX
|
| Xq11.2 | ? | Spastic paraplegia 16 -SPG16
|
| Xq11.2-q12 | AR androgen receptor | Prostate cancer -AR
Androgen insensitivity -AIS
Spinal and bulbar muscular atrophy of Kennedy -SBMA
Breast cancer, male, with Reifenstein syndrome -DHTR
Perineal hypospadias -DHTR
|
| Xq13 | PGK1 phosphoglycerate kinase 1 | posphoglycerate kinase deficiency -
Hemolytic anemia due to PGK deficiency -PGK1
Phosphoglycerate kinase 1 pseudogene1 included -PGK1P1
Phosphoglycerate kinase 1 pseudogene2 included -PGK1P2
Myoglobinuria/hemolysis due to PGK deficiency -PGK1
|
| Xq13.1 | GJB1 gap junction protein, beta 1, 32kDa (connexin 32) | Dejerine-Sottas hypertrophic neuropathy, recessive -
Charcot-Marie-Tooth neuropathy, X-linked -CMTX1
|
| Xq13.1-q21 | ? | spinal muscular atrophy, distal, x-linked 3 -SMAX3
|
| Xq21.32-q24 | PRPS1 phosphoribosyl pyrophosphate synthetase 1 | charcot-marie-tooth disease, x-linked recessive, 5 -CMTX5
|
| Xq22 | PLP1 proteolipid protein 1 | Pelizaeus-Merzbacher disease -PMD
Spastic paraplegia 2 -SPG2
|
| Xq24 | LAMP2 lysosomal-associated membrane protein 2 precursor | Glycogen storage disease IIb -LAMP2
Danon disease -GSD IIb
|
| Xq24-q25 | ? | spastic paraplegia 34, x-linked -SPG34
|
| Xq24-q26.1 | ? | Charcot-Marie-Tooth disease with deafness and mental retardation -NAMSD
Cowchock syndrome -NAMSD
Neuropathy, axonal motor-sensory, with deafness and mental retardation -NAMSD
|
| Xq26 | ? | charcot-marie-tooth disease, x-linked recessive, 3 -CMTX3
|
| Xq26.3 | FHL1 four and a half LIM domain 1 | reducing body myopathy -
scapuloperoneal myopathy -XPMD
x-linked myopathy with postural muscle atrophy -XMPMA
Emery-dreifuss muscular dystrophy 6 -EDMD6
|
| Xq28 | EMD emerin | Emery-dreifuss muscular dystrophy 1 -EDMD1
|
| Xq28 | TAZ tafazzin | Cardiomyopathy, X-linked dilated -CMD3A
Noncompaction of left ventricular myocardium, isolated -INVM
Endocardial fibroelastosis-2 -G4.5
Barth syndrome -BTHS
|
| Xq28 | VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) | Myopathy, X-linked, with excessive autophagy -XMEA
|
| Xq28 | MTM1 myotubularin | Myotubular myopathy, X-linked -MTMX
|
| Xq28 | ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 | Adrenoleukodystrophy -ALD
Adrenomyeloneuropathy -ALD
|
| Xq28 | L1CAM L1 cell adhesion molecule | Hydrocephalus with Hirschspung disease and cleft palate -HSCR
CRASH syndrome -L1CAM
MASA syndrome -L1CAM
CRASH syndrome -HSAS
|
| Xq28 | FLNA filamin A, alpha (actin binding protein 280) | MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED -XMVD
cardiac valvular dysplasia, x-linked -CVD1
|