1
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
2
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
3
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
5
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
6
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
7
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
8
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
9
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
10
|
(HPO:0001245)
|
Small thenar eminence |
|
|
|
|
10 / 7739
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
12
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
13
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
15
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
16
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
17
|
(HPO:0003764)
|
Nevus |
|
|
|
|
17 / 7739
|
18
|
(HPO:0006109)
|
Absent phalangeal crease |
|
|
|
|
4 / 7739
|
19
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
20
|
(HPO:0010487)
|
Small hypothenar eminence |
|
|
|
|
4 / 7739
|
21
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
22
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
23
|
(OMIM)
|
Widened columella |
|
|
|
|
1 / 7739
|
24
|
(HPO:0009755)
|
Ankyloblepharon |
|
|
|
|
10 / 7739
|
25
|
(OMIM)
|
Widened nasal tip |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Short sternocleidomastoid |
|
|
|
|
1 / 7739
|
27
|
(HPO:0006429)
|
Broad femoral neck |
|
|
|
|
18 / 7739
|
28
|
(HPO:0003868)
|
Humeral cortical thickening |
|
|
|
|
2 / 7739
|
29
|
(OMIM)
|
Thin hands |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Poorly defined palmar creases |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Thin feet |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
External rotation 4th and 5th toes |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Multiple nevi |
|
|
|
|
4 / 7739
|
34
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
35
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|