|
1
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0002208)
|
Coarse hair |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
3
|
(HPO:0003777)
|
Pili torti |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
4
|
(HPO:0002299)
|
Brittle hair |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
5
|
(HPO:0001595)
|
Abnormality of the hair |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
6
|
(HPO:0002213)
|
Fine hair |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
7
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
8
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
9
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
12
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
13
|
(OMIM)
|
Stubby hair, eyebrows and eyelashes |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Coarse hair, eyebrows and eyelashes |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Sparse hair, eyebrows and eyelashes |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Fragile hair, eyebrows and eyelashes |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
18
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
19
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|