|
1
|
(HPO:0000098)
|
Tall stature |
|
|
|
|
74 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
8
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
10
|
(HPO:0000915)
|
Pectus excavatum of inferior sternum |
|
|
|
|
21 / 7739
|
|
11
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
12
|
(HPO:0007429)
|
Few cafe-au-lait spots |
|
|
|
|
7 / 7739
|
|
13
|
(HPO:0007565)
|
Multiple cafe-au-lait spots |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0000997)
|
Axillary freckling |
|
|
|
|
9 / 7739
|
|
15
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
16
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
|
17
|
(HPO:0001230)
|
Broad metacarpals |
|
|
|
|
17 / 7739
|
|
18
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
19
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
20
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
21
|
(HPO:0001548)
|
Overgrowth |
|
|
|
|
27 / 7739
|
|
22
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
23
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
24
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
25
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
26
|
(HPO:0009732)
|
Plexiform neurofibroma |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0009734)
|
Optic glioma |
|
|
|
|
7 / 7739
|
|
28
|
(HPO:0009735)
|
Spinal neurofibromas |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0009737)
|
Lisch nodules |
|
|
|
|
10 / 7739
|
|
30
|
(HPO:0012062)
|
Bone cyst |
|
|
|
|
19 / 7739
|
|
31
|
(HPO:0100697)
|
Neurofibrosarcoma |
|
|
|
|
5 / 7739
|
|
32
|
(HPO:0100698)
|
Subcutaneous neurofibromas |
|
|
|
|
3 / 7739
|
|
33
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
34
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
35
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
36
|
(OMIM)
|
Increased joint laxity (72%) |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Accelerated carpal bone age |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Large feet |
|
|
|
|
12 / 7739
|
|
39
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
40
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
41
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
42
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
43
|
(OMIM)
|
Inguinal freckling |
|
|
|
|
4 / 7739
|
|
44
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
45
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
46
|
(OMIM)
|
Soft fleshy palms (50%) |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Delayed cognitive development/learning disabilities (93%) |
|
|
|
|
2 / 7739
|
|
48
|
(OMIM)
|
Brain MRI shows T2-weighted hyperintensities (17%) |
|
|
|
|
2 / 7739
|
|
49
|
(OMIM)
|
Attention difficulties (73%) |
|
|
|
|
2 / 7739
|
|
50
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|