|
1
|
(HPO:0002354)
|
Memory impairment |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
4
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
5
|
(HPO:0002289)
|
Alopecia universalis |
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
7
|
(HPO:0000995)
|
Melanocytic nevus |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
10
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
11
|
(HPO:0000598)
|
Abnormality of the ear |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
12
|
(HPO:0000230)
|
Gingivitis |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
13
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
14
|
(HPO:0000704)
|
Periodontitis |
|
|
|
|
24 / 7739
|
|
15
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
16
|
(HPO:0005597)
|
Congenital alopecia totalis |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
18
|
(OMIM)
|
Alopecia universalis, congenital |
|
|
|
|
1 / 7739
|
|
19
|
(MedDRA:10037214)
|
Psychomotor seizures |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
21
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
22
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|