|
1
|
(HPO:0001332)
|
Dystonia |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0000158)
|
Macroglossia |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
3
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
4
|
(HPO:0000171)
|
Microglossia |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
5
|
(HPO:0200039)
|
Pustule |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
7
|
(HPO:0100582)
|
Nasal polyposis |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
8
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
9
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
12
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
13
|
(HPO:0005671)
|
Bilateral intracranial calcifications |
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
15
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
16
|
(HPO:0001061)
|
Acne |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
17
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
18
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
|
19
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
20
|
(HPO:0000987)
|
Atypical scarring of skin |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
21
|
(HPO:0001609)
|
Hoarse voice |
|
|
|
|
34 / 7739
|
|
22
|
(HPO:0002232)
|
Patchy alopecia |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0002354)
|
Memory impairment |
|
|
|
|
63 / 7739
|
|
24
|
(HPO:0011999)
|
Paranoia |
|
|
|
|
6 / 7739
|
|
25
|
(OMIM)
|
Acneform lesions |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Papules along the eyebrows and palpebral fissures |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Papules on the lips |
|
|
|
|
1 / 7739
|
|
28
|
(MedDRA:10054826)
|
Pharyngeal lesion |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Thickened tongue |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Laryngeal lesions resulting in hoarseness |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Yellow, papular lesions of the lip, soft palate, pharynx |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Thickened skin over the elbows and along the fingers |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Verrucous lesions |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Acneform facial lesions |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Deposition of hyaline material in the skin |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Episodic absence-like spells |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Intracranial calcifications in the anterior mesial temporal lobes |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Calcification of the amygdala and the amygdala-hippocampal transition area |
|
|
|
|
1 / 7739
|
|
39
|
(MedDRA:10070246)
|
Executive dysfunction |
|
|
|
|
6 / 7739
|
|
40
|
(OMIM)
|
Absence of fear |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Hoarse voice due to laryngeal infiltration |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Stiff skin |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
43
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
44
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
45
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
46
|
(HPO:0012740)
|
Papilloma |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
47
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
48
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
49
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|