Автор: | Группа авторов |
Издательство: | John Wiley & Sons Limited |
Серия: | |
Жанр произведения: | Биология |
Год издания: | 0 |
isbn: | 9781119676959 |
1
Spondyloepiphyseal dysplasia tarda, X‐linked (SEDT)
TRAPPC2
AD
1
1
2
2
1
1
Stargardt disease 1 (STGD1)
ABCA4
AR
4
10
5
6
2
2
Stickler syndrome, type I (STL1)
Col2A1
AD
4
4
3
5
2
2
Stickler syndrome, type II (STL2)
COL11A1
AD
2
7
6
15
1
1
Stickler syndrome, type II (STL2)
COL18A1
AR
1
1
1
1
1
1
Succinic semialdehyde dehydrogenase deficiency (SSADHD)
ALDH5A1
AR
3
4
4
9
2
2
Sulfocysteinuria
SUOX
AR
1
1
2
2
1
1
Supranuclear palsy, progressive, 1 (PSNP1)
MAPT
AD
2
3
3
5
1
1
Surfactant metabolism dysfunction, pulmonary, 3 (SMDP3)
ABCA3
AR
1
2
2
4
1
1
Symphalangism, proximal (SYM1)
NOG
AD
1
3
3
7
2
2
Tay–Sachs disease (TSD)
HEXA
AR
25
46
29
52
19
17
Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber (HHT)
ENG
AD
4
11
6
7
3
3
Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)
ACVRL1
AD
4
8
7
8
4
4
Temtamy syndrome (TEMTYS)
C12orf57
AR
1
1
1
2
0
0
Thrombocytopenia‐absent radius syndrome (TAR)
RBM8A
AR
4
6
5
7
4
4
Treacher Collins syndrome 1 (TCS1)
TCOF1
AD
6
8
8
14
7
7
Treacher Collins syndrome 2 (TCS2)
POLR1D
AD
1
1
1
1
0
0
Tuberous sclerosis 1 (TSC1)
TSC1
AD
20
30
27
52
16
14
Tuberous sclerosis 2 (TSC2)
TSC2
AD
8
14
10
14
5
4
Tyrosinemia, type I (TYRSN1)
FAH
AR
1