|
Mucopolysaccharidosis, type IVA (MPS4A)
|
GALNS
|
AR
|
1
|
4
|
4
|
12
|
2
|
2
|
|
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia
|
CEP55
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Multiple congenital anomalies–hypotonia–seizures syndrome 2 (MCAHS2)
|
PIGA
|
XL
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Multiple endocrine neoplasia, type I (MEN1)
|
MEN1
|
AD
|
8
|
21
|
16
|
23
|
7
|
4
|
|
Multiple endocrine neoplasia, type IIA (MEN2A)
|
RET
|
AD
|
6
|
11
|
11
|
17
|
8
|
8
|
|
Multiple endocrine neoplasia, type IV (MEN4)
|
CDKN1B
|
AD
|
1
|
3
|
1
|
1
|
1
|
1
|
|
Muscular dystrophy, congenital merosin‐deficient, 1A (MDC1A)
|
LAMA2
|
AR
|
6
|
7
|
7
|
14
|
7
|
6
|
|
Muscular dystrophy, Duchenne type (DMD)
|
DMD
|
XL
|
69
|
115
|
103
|
169
|
57
|
48
|
|
Muscular dystrophy, limb‐girdle, type 2A (LGMD2A)
|
CAPN3
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Muscular dystrophy, limb‐girdle, type 2S (LGMD2S)
|
TRAPPC11
|
AR
|
1
|
1
|
2
|
2
|
2
|
2
|
|
Muscular dystrophy–dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MDDGA5)
|
FKRP
|
AR
|
1
|
3
|
3
|
3
|
1
|
1
|
|
Muscular dystrophy–dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)
|
FKTN
|
AR
|
2
|
2
|
2
|
3
|
2
|
2
|
|
Myoglobinuria, acute recurrent, autosomal recessive
|
LPIN1
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Myopathy, areflexia, respiratory distress, and dysphagia, early‐onset (EMARDD)
|
MEGF10
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Myopathy, centronuclear, X‐linked (CNMX)
|
MTM1
|
XL
|
5
|
6
|
4
|
6
|
4
|
4
|
|
Myopathy, myofibrillar, 1 (MFM1)
|
DES
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Myotonia congenita, autosomal dominant
|
CLCN1
|
AD
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Myotonic dystrophy 1 (DM1)
|
DMPK
|
AD
|
94
|
147
|
107
|
188
|
55
|
46
|
|
Myotonic dystrophy 2 (DM2)
|
CNBP
|
AD
|
1
|
2
|
2
|
4
|
2
|
2
|
