|
Nail–patella syndrome (NPS)
|
LMX1B
|
AD
|
3
|
4
|
3
|
4
|
1
|
1
|
|
Nemaline myopathy 2 (NEM2)
|
NEB
|
AR
|
6
|
6
|
6
|
10
|
3
|
3
|
|
Nephrotic syndrome, type 1 (NPHS1)
|
NPHS1
|
AR
|
1
|
3
|
3
|
7
|
1
|
0
|
|
Nephrotic syndrome, type 2 (NPHS2)
|
NPHS2
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Nephrotic syndrome, type 5
|
LAMB2
|
AR
|
1
|
2
|
2
|
4
|
2
|
1
|
|
Neurofibromatosis, type I (NF1)
|
NF1
|
AD
|
51
|
90
|
80
|
123
|
46
|
41
|
|
Neurofibromatosis, type II (NF2)
|
NF2
|
AD
|
7
|
10
|
9
|
17
|
7
|
7
|
|
Neuropathy, hereditary sensory and autonomic, type III (HSAN3)
|
IKBKAP
|
AR
|
13
|
19
|
17
|
28
|
9
|
9
|
|
Neuropathy, hereditary sensory and autonomic, type VI (HSAN6)
|
DST
|
AD
|
1
|
2
|
2
|
2
|
2
|
2
|
|
Neutropenia, severe congenital, 1, autosomal dominant (SCN1)
|
ELANE
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Niemann–Pick disease, type A
|
SMPD1
|
AR
|
3
|
5
|
3
|
6
|
2
|
2
|
|
Nijmegen breakage syndrome (NBS)
|
NBN
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Noonan syndrome 1 (NS1)
|
PTPN11
|
AD
|
5
|
7
|
7
|
9
|
4
|
3
|
|
Norrie disease (ND)
|
NDP
|
XL
|
5
|
8
|
6
|
12
|
2
|
2
|
|
Omenn syndrome
|
RAG1
|
AD
|
2
|
6
|
5
|
12
|
1
|
1
|
|
Optic atrophy 1 (OPA1)
|
OPA1
|
AD
|
3
|
5
|
5
|
9
|
1
|
1
|
|
Ornithine transcarbamylase deficiency
|
OTC
|
XL
|
11
|
24
|
19
|
32
|
11
|
10
|
|
Osteogenesis imperfecta, type I (OI1)
|
COL1A1
|
AD
|
24
|
61
|
44
|
72
|
17
|
17
|
|
Osteogenesis imperfecta, type II (OI2)
|
COL1A2
|
AD
|
5
|
5
|
5
|
5
|
3
|
2
|
|
Osteogenesis imperfecta, type IX (OI9)
|
PPIB
|
AR
|
1
|
2
|
2
|
|
