|
1
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
|
6
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
|
|
75 / 7739
|
|
7
|
(HPO:0001019)
|
Erythroderma |
|
|
|
|
24 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
10
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
11
|
(HPO:0001808)
|
Fragile nails |
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
|
13
|
(HPO:0002099)
|
Asthma |
|
|
|
|
62 / 7739
|
|
14
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
15
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|
|
16
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
17
|
(HPO:0005214)
|
Intestinal obstruction |
|
|
|
|
35 / 7739
|
|
18
|
(HPO:0007479)
|
Congenital nonbullous ichthyosiform erythroderma |
|
|
|
|
13 / 7739
|
|
19
|
(HPO:0007519)
|
Lack of subcutaneous fatty tissue |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Aged appearance |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Reduced cysteine-rich hair and nail matrix proteins |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Nucleotide excision-repair (NER) defect |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Physical retardation |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Absent breast tissue |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
|
26
|
(OMIM)
|
Nonbullous ichthyosiform erythroderma |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|