0
|
0
|
0
|
|
Congenital disorder of deglycosylation (CDDG)
|
NGLY1
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Congenital disorder of glycosylation, type Ia (CDG1A)
|
PMM2
|
AR
|
5
|
5
|
4
|
4
|
3
|
3
|
|
Congenital disorder of glycosylation, type IIc (CDG2C)
|
SLC35C1
|
AR
|
1
|
1
|
2
|
3
|
0
|
0
|
|
Congenital disorder of glycosylation, type IIL (CDG2L)
|
COG6
|
AR
|
1
|
2
|
2
|
2
|
0
|
0
|
|
Congenital disorder of glycosylation, type In (CDG1N)
|
RFT1
|
AR
|
2
|
2
|
2
|
4
|
1
|
1
|
|
Cranioectodermal dysplasia 2 (CED2)
|
WDR35
|
AR
|
1
|
1
|
1
|
1
|
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)
|
|
