|
1
|
(HPO:0001332)
|
Dystonia |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0000298)
|
Mask-like facies |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
4
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
7
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
8
|
(HPO:0005338)
|
Sparse lateral eyebrow |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
10
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
11
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
12
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
13
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
14
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
15
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
16
|
(HPO:0002162)
|
Low posterior hairline |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0000632)
|
Lacrimation abnormality |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
19
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
20
|
(HPO:0001304)
|
Torsion dystonia |
|
|
|
|
13 / 7739
|
|
21
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
22
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
23
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
24
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
25
|
(OMIM)
|
Lateral displacement of lacrimal puncta |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Lacrimal excretory obstruction |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Bulky nose |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
29
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
31
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
|
32
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
33
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
34
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
35
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|