|
Hurler syndrome
|
IDUA
|
AR
|
7
|
10
|
8
|
13
|
3
|
3
|
|
Hyaline fibromatosis syndrome (HFS)
|
ANTXR2
|
AR
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS)
|
L1CAM
|
XL
|
11
|
16
|
16
|
34
|
8
|
6
|
|
Hydroxyacyl‐CoA dehydrogenase/3‐ketoacyl‐CoA thiolase/enoyl‐CoA hydratase, alpha subunit (HADHA)
|
HADHA
|
AR
|
4
|
4
|
4
|
13
|
3
|
3
|
|
Hyperinsulinemic hypoglycemia, familial, 1 (HHF1)
|
ABCC8
|
AR
|
2
|
11
|
8
|
19
|
4
|
2
|
|
Hyperuricemic nephropathy, familial juvenile, 1 (HNFJ1)
|
UMOD
|
AD
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)
|
ANOS1
|
XL
|
1
|
1
|
2
|
2
|
0
|
0
|
|
Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)
|
KAL1
|
XL
|
1
|
2
|
1
|
1
|
1
|
1
|
|
Hypoparathyroidism–retardation–dysmorphism syndrome (HRDS)
|
TBCE
|
1R
|
1
|
1
|
1
|
2
|
0
|
0
|
|
Hypophosphatasia, infantile
|
ALPL
|
AR
|
6
|
7
|
6
|
9
|
4
|
4
|
|
Ichthyosis, congenital, autosomal recessive 1 (ARCI1)
|
TGM1
|
AD
|
2
|
9
|
7
|
10
|
1
|
1
|
|
Ichthyosis, lamellar, 2 (LI2)
|
ABCA12
|
AR
|
2
|
2
|
1
|
2
|
0
|
0
|
|
Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR)
|
ELOVL4
|
AR
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Ichthyosis, X‐linked (XLI)
|
STS
|
XL
|
2
|
3
|
3
|
4
|
1
|
1
|
|
Ifap syndrome with or without Bresheck syndrome
|
MBTPS2
|
XL
|
2
|
3
|
2
|
5
|
2
|
1
|
|
Immunodeficiency with hyper‐IgM, type 1 (HIGM1)
|
CD40LG
|
XL
|
4
|
14
|
14
|
22
|
6
|
6
|
|
Immunodysregulation, polyendocrinopathy, and enteropathy, X‐linked (IPEX)
|
FOXP3
|
XL
|
2
|
3
|
3
|
3
|
1
|
1
|
|
Incontinentia pigmenti (IP)
|
IKBKG
|
XL
|
15
|
35
|
28
|
43
|
11
|
11
|
|
Infantile cerebellar‐retinal degeneration (ICRD)
|
ACO2
|
AR
|
1
|
1
|
1
|
2
|
2
|
2
|
|
Infantile
|
