|
1
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
2
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
4
|
(HPO:0000232)
|
Everted lower lip vermilion |
rare [HPO:skoehler]
|
|
|
|
90 / 7739
|
|
5
|
(HPO:0000656)
|
Ectropion |
rare [HPO:skoehler]
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0000966)
|
Hypohidrosis |
hallmark [HPO:skoehler]
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
|
|
40 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
10
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
11
|
(HPO:0001792)
|
Small nail |
rare [HPO:skoehler]
|
|
|
|
55 / 7739
|
|
12
|
(HPO:0001816)
|
Thin nail |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
|
13
|
(HPO:0001831)
|
Short toe |
rare [HPO:skoehler]
|
|
|
|
52 / 7739
|
|
14
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0003470)
|
Paralysis |
|
|
|
|
11 / 7739
|
|
16
|
(HPO:0007431)
|
Congenital ichthyosiform erythroderma |
|
|
|
|
17 / 7739
|
|
17
|
(HPO:0007479)
|
Congenital nonbullous ichthyosiform erythroderma |
|
|
|
|
13 / 7739
|
|
18
|
(HPO:0009381)
|
Short finger |
rare [HPO:skoehler]
|
|
|
|
45 / 7739
|