|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
8
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
9
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
10
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
11
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
12
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
13
|
(HPO:0000915)
|
Pectus excavatum of inferior sternum |
|
|
|
|
21 / 7739
|
|
14
|
(HPO:0000917)
|
Superior pectus carinatum |
|
|
|
|
11 / 7739
|
|
15
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
16
|
(HPO:0000997)
|
Axillary freckling |
|
|
|
|
9 / 7739
|
|
17
|
(HPO:0001067)
|
Neurofibromas |
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
20
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
21
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
22
|
(HPO:0001684)
|
Secundum atrial septal defect |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
24
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
25
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
|
26
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
27
|
(HPO:0005272)
|
Prominent nasolabial fold |
|
|
|
|
4 / 7739
|
|
28
|
(HPO:0009734)
|
Optic glioma |
|
|
|
|
7 / 7739
|
|
29
|
(HPO:0009737)
|
Lisch nodules |
Rare [HPO]
|
|
|
|
10 / 7739
|
|
30
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
31
|
(OMIM)
|
Low nasal root |
|
|
|
|
3 / 7739
|
|
32
|
(OMIM)
|
Inguinal freckling |
|
|
|
|
4 / 7739
|
|
33
|
(OMIM)
|
Frontal upsweep of the hair |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Articulation defects |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Developmental delay, mild |
|
|
|
|
8 / 7739
|
|
36
|
(OMIM)
|
Unidentified bright objects on brain MRI |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Low incidence of plexiform neurofibromas |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
39
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
40
|
(HPO:0030052)
|
Inguinal freckling |
|
|
|
|
3 / 7739
|