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
|
|
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
|
