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
|
0
|
0
|
|
Microcephaly 5, primary, autosomal recessive (MCPH5)
|
ASPM
|
AR
|
2
|
3
|
2
|
3
|
2
|
2
|
|
Microcephaly 6, primary, MCPH6)
|
CENPJ
|
AR
|
1
|
2
|
2
|
2
|
1
|
1
|
|
Microphthalmia, isolated, with coloboma 3 (MCOPCB3)
|
VSX2
|
AR
|
2
|
2
|
1
|
1
|
1
|
1
|
|
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN)
|
AMMECR1
|
XL
|
2
|
8
|
6
|
9
|
2
|
2
|
|
Migraine, familial hemiplegic, 1 (FHM1)
|
CACNA1A
|
AD
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Mitochondrial complex i deficiency due to acad 9 deficiency
|
ACAD9
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Mitochondrial DNA depletion syndrome 13
|
FBXL4
|
AD
|
1
|
1
|
3
|
4
|
1
|
1
|
|
Mitochondrial DNA depletion syndrome 4a (Alpers type) (MTDPS4A)
|
POLG
|
AR
|
3
|
5
|
5
|
5
|
4
|
4
|
|
Molybdenum cofactor deficiency, complementation group B (MOCODB)
|
MOCS2
|
AR
|
1
|
1
|
3
|
4
|
0
|
0
|
|
Mosaic variegated aneuploidy syndrome 1 (MVA1)
|
BUB1B
|
AR
|
1
|
1
|
1
|
2
|
1
|
0
|
|
Mucolipidosis II alpha/beta
|
GNPTAB
|
AR
|
2
|
3
|
2
|
2
|
2
|
2
|
|
Mucopolysaccharidosis, type II (MPS2)
|
IDS
|
XL
|
9
|
20
|
15
|
29
|
10
|
6
|
|
Mucopolysaccharidosis, type IIIA (MPS3A)
|
SGSH
|
AR
|
2
|
2
|
2
|
3
|
0
|
0
|
