|
1
|
(HPO:0004437)
|
Cranial hyperostosis |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
2
|
(HPO:0001182)
|
Tapered finger |
Occasional [Orphanet]
Occasional [HPO:probinson]
|
|
|
|
93 / 7739
|
|
3
|
(HPO:0000158)
|
Macroglossia |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
4
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
5
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0002553)
|
Highly arched eyebrow |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
7
|
(HPO:0000574)
|
Thick eyebrow |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0000340)
|
Sloping forehead |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
10
|
(HPO:0100540)
|
Palpebral edema |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
11
|
(HPO:0000664)
|
Synophrys |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
12
|
(HPO:0009928)
|
Thick nasal alae |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0001072)
|
Thickened skin |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
16
|
(HPO:0001176)
|
Large hands |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
17
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
18
|
(HPO:0001328)
|
Specific learning disability |
Occasional [HPO:probinson]
|
|
|
|
114 / 7739
|
|
19
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
|
20
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
21
|
(HPO:0001256)
|
Intellectual disability, mild |
Occasional [HPO:probinson]
|
|
|
|
141 / 7739
|
|
22
|
(HPO:0001520)
|
Large for gestational age |
|
|
|
|
34 / 7739
|
|
23
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
24
|
(OMIM)
|
Increased birth weight |
|
|
|
|
6 / 7739
|
|
25
|
(OMIM)
|
Thickened upper eyelids |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Thickened lips, progressive |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Intraoral mucosal overgrowth |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Exaggerated oral rugae and frenula |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Large doughy hands |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Doughy skin |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0000159)
|
Abnormality of the lip |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
32
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
33
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
34
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
35
|
(HPO:0000168)
|
Abnormality of the gingiva |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
36
|
(HPO:0100649)
|
Neoplasm of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
37
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|