|
1
|
(HPO:0200037)
|
Skin vesicle |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
3
|
(HPO:0000989)
|
Pruritus |
Very frequent [Orphanet]
|
|
|
|
111 / 7739
|
|
4
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
5
|
(HPO:0001595)
|
Abnormality of the hair |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
6
|
(HPO:0001072)
|
Thickened skin |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
7
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
10
|
(HPO:0001807)
|
Ridged nail |
|
|
|
|
20 / 7739
|
|
11
|
(HPO:0007302)
|
Bipolar affective disorder |
|
|
|
|
15 / 7739
|
|
12
|
(HPO:0008410)
|
Subungual hyperkeratotic fragments |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0010610)
|
Palmar pits |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0010612)
|
Plantar pits |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0011801)
|
Enlargement of parotid gland |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0100753)
|
Schizophrenia |
|
|
|
|
20 / 7739
|
|
17
|
(HPO:0200016)
|
Acrokeratosis |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Recurrent parotid gland swelling |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Oral mucosal lesions |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Brown, warty keratotic papules (trunk, scalp, forehead, flexural areas) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Odoriferous,, hypertrophic plaques |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Keratotic plaque (in some patients) |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Hemorrhagic palmar and plantar macules (uncommon) |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Acrokeratosis verruciformis-like lesions on dorsum of hands |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Acantholysis (cell separation) in the suprabasal layer of the epidermis with premature differentiation and hyperkeratinization of the epidermis |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Loss of desmosomal attachments and perinuclear aggregation of keratin filaments |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Fingernails involved more often than toenails |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Longitudinal white or red subungual streaks |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Distal V-shaped notching |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Nail fragility |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
32
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
33
|
(MedDRA:10025421)
|
Macule |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
35
|
(HPO:0001034)
|
Hypermelanotic macule |
rare [HPO:skoehler]
|
|
|
|
22 / 7739
|