|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
9
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
10
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
12
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
13
|
(HPO:0000766)
|
Abnormality of the sternum |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
15
|
(HPO:0000997)
|
Axillary freckling |
|
|
|
|
9 / 7739
|
|
16
|
(HPO:0001012)
|
Multiple lipomas |
|
|
|
|
43 / 7739
|
|
17
|
(HPO:0001067)
|
Neurofibromas |
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
19
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
20
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
21
|
(OMIM)
|
Noonan-like facies in a minority of patients |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Triangular face with age |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Deeply grooved philtrum |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
High peaks of upper lip vermilion border |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
26
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
27
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
28
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
29
|
(OMIM)
|
No neurofibromas |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|