AD
|
4
|
7
|
6
|
8
|
6
|
6
|
|
Macular dystrophy, vitelliform, 2 (VMD2)
|
BEST1
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Maple syrup urine disease (MSUD)
|
BCKDHB
|
AR
|
1
|
2
|
2
|
2
|
1
|
1
|
|
Marfan syndrome (MFS)
|
FBN1
|
AD
|
30
|
58
|
46
|
78
|
27
|
21
|
|
Marinesco–Sjogren syndrome (MSS)
|
SIL1
|
AR
|
1
|
3
|
3
|
5
|
1
|
1
|
|
Meckel syndrome, type 1 (MKS1)
|
MKS1
|
AR
|
2
|
5
|
5
|
9
|
2
|
2
|
|
Meckel syndrome, type 4 (MKS4)
|
CEP290
|
|
4
|
6
|
6
|
10
|
4
|
4
|
|
Meckel syndrome, type 6 (MKS6)
|
CC2D2A
|
AR
|
2
|
5
|
5
|
9
|
2
|
2
|
|
Meckel syndrome, type 6 (MKS6)
|
CCD2DA2
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Meckel syndrome, type 8 (MKS8)
|
TCTN2
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Mental retardation, autosomal dominant 35 (MRD35)
|
PPP2R5
|
AD
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Mental retardation, autosomal recessive 38 (MRT38)
|
HERC2
|
AR
|
1
|
2
|
2
|
3
|
1
|
1
|
|
Metachromatic leukodystrophy due to saposin B deficiency
|
PSAP
|
AR
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Metachromatic leukodystrophy (MLD)
|
ARSA
|
AR
|
3
|
4
|
3
|
4
|
4
|
2
|
|
Metaphyseal chondrodysplasia, Schmid type (MCDS)
|
COL10A1
|
AD
|
2
|
7
|
3
|
4
|
2
|
2
|
|
Methylmalonic aciduria and homocystinuria, cblC type
|
MMACHC
|
AR
|
3
|
6
|
6
|
11
|
5
|
5
|
|
Methylmalonic aciduria due to methylmalonyl‐CoA mutase deficiency
|
MUT
|
AR
|
2
|
4
|
4
|
4
|
2
|
2
|
|
Methylmalonic aciduria, cblB type
|
MMAB
|
AR
|
3
|
3
|
2
|
3
|
1
|
1
|
|
Microcephalic osteodysplastic primordial dwarfism, type I (MOPD1)
|
RNU4ATAC
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Microcephaly 2, primary, autosomal recessive (MCPH2)
|
WDR62
|
AR
|
1
|
1
|
1
|
1
|
