|
1
|
1
|
|
Craniofrontonasal syndrome (CFNS)
|
EFNB1
|
XL
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Creutzfeldt–Jakob disease (CJD); Gerstmann–Straussler disease (GSD)
|
PRNP
|
AD
|
6
|
9
|
9
|
12
|
8
|
7
|
|
Crouzon syndrome
|
FGFR2
|
AD
|
8
|
16
|
14
|
23
|
9
|
8
|
|
Currarino syndrome
|
MNX1
|
AD
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Cutis laxa, autosomal dominant 1 (ADCL1)
|
ELN
|
AD
|
1
|
4
|
3
|
4
|
2
|
2
|
|
Cutis laxa, autosomal recessive, type IIB (ARCL2B)
|
PYCR1
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Cutis laxa, autosomal recessive, type IIIA (ARCL3A)
|
ALDH18A1
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Cystic fibrosis (CF)
|
CFTR
|
AR
|
496
|
748
|
627
|
1072
|
354
|
314
|
|
Cystinosis, nephropathic (CTNS)
|
CTNS
|
AR
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Danon disease
|
LAMP2
|
XL
|
1
|
2
|
2
|
2
|
2
|
2
|
|
Darier–White disease (DAR)
|
ATP2A2
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
D‐bifunctional protein deficiency
|
HSD17B4
|
AR
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Deafness, autosomal dominant 3b (DFNA3b)
|
GJB6
|
AD
|
1
|
2
|
2
|
3
|
1
|
1
|
|
Deafness, neurosensory, autosomal recessive 1 (DFNB1)
|
GJB2
|
AR
|
51
|
68
|
56
|
80
|
33
|
30
|
|
Dentinogenesis imperfecta, shields type III
|
DSPP
|
AD
|
1
|
2
|
2
|
2
|
2
|
1
|
|
Developmental delay
|
DHX35
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Diabetes insipidus, nephrogenic, X‐linked
|
AVPR2
|
XL
|
1
|
3
|
3
|
3
|
1
|
1
|
|
Diabetes mellitus, permanent neonatal (PNDM)
|
INS
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Diamond–Blackfan anemia 1 (DBA1)
|
RPS19
|
AD
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Digeorge syndrome (DGS)
|
TBX1
|
AD
|
|
