|
1
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
2
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
3
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
|
4
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
11
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
12
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
13
|
(OMIM)
|
Small upturned nose |
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
No abnormalities of teeth |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
No abnormalities of sweating |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
No abnormalities of hair |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
18
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
19
|
(OMIM)
|
Developmental delay, primarily motor, resolves in childhood |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|