1
|
(HPO:0002299)
|
Brittle hair |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
2
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
3
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
4
|
(HPO:0002217)
|
Slow-growing hair |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
5
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
6
|
(HPO:0002213)
|
Fine hair |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
7
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
8
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
9
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
10
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
11
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
12
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
13
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
14
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
15
|
(HPO:0007468)
|
Perifollicular hyperkeratosis |
|
|
|
|
4 / 7739
|
16
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
17
|
(MedDRA:10066295)
|
Keratosis pilaris |
|
|
|
|
11 / 7739
|
18
|
(MedDRA:10023369)
|
Keratosis follicular |
|
|
|
|
5 / 7739
|
19
|
(OMIM)
|
Short hair |
|
|
|
|
2 / 7739
|
20
|
(OMIM)
|
Beaded hair on microscopy |
|
|
|
|
1 / 7739
|
21
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
22
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
23
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
25
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
26
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|