|
1
|
(HPO:0003777)
|
Pili torti |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
4
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
5
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
6
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
7
|
(HPO:0002208)
|
Coarse hair |
|
|
|
|
58 / 7739
|
|
8
|
(HPO:0002299)
|
Brittle hair |
|
|
15345881
|
IBIS
|
52 / 7739
|
|
9
|
(HPO:0003329)
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0011359)
|
Dry hair |
|
|
|
|
16 / 7739
|
|
11
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
12
|
(OMIM)
|
Dry lusterless hair |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Fragile hair |
|
|
|
|
5 / 7739
|
|
14
|
(MedDRA:10059594)
|
Secondary hypogonadism |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
16
|
(HPO:0010720)
|
Abnormal hair pattern |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0000970)
|
Anhidrosis |
|
|
|
|
24 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|