Chromosome number :

1
2
3
4
5
6
7
8
9
X

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