|
1
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
3
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
4
|
(HPO:0000274)
|
Small face |
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
6
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
7
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
8
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
10
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
11
|
(HPO:0001075)
|
Atrophic scars |
|
|
|
|
15 / 7739
|
|
12
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
16
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
17
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
18
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
19
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
|
20
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
21
|
(HPO:0002974)
|
Radioulnar synostosis |
|
|
|
|
52 / 7739
|
|
22
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
23
|
(HPO:0007469)
|
Palmoplantar cutis gyrata |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
|
|
|
|
41 / 7739
|
|
25
|
(OMIM)
|
Broad, flat forehead |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Long, slender toes |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Loose, elastic skin |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
29
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
30
|
(OMIM)
|
Galactosyltransferase I deficiency in fibroblasts |
|
|
|
|
1 / 7739
|