|
1
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
2
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
5
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
6
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
7
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
8
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
9
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
11
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
12
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
13
|
(HPO:0004763)
|
Paroxysmal supraventricular tachycardia |
|
|
|
|
10 / 7739
|
|
14
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
15
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
16
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
17
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
20
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
22
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|
|
23
|
(HPO:0002868)
|
Narrow iliac wings |
|
|
|
|
15 / 7739
|
|
24
|
(HPO:0003085)
|
Long fibula |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
26
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
|
27
|
(HPO:0005121)
|
Posterior scalloping of vertebral bodies |
|
|
|
|
4 / 7739
|
|
28
|
(HPO:0010582)
|
Irregular epiphyses |
|
|
|
|
19 / 7739
|
|
29
|
(HPO:0010585)
|
Small epiphyses |
|
|
|
|
16 / 7739
|
|
30
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
31
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
32
|
(OMIM)
|
Eversion of lower lip |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Irregular, small epiphyses |
|
|
|
|
6 / 7739
|
|
34
|
(OMIM)
|
Vertical striations of metaphyses |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Large number of small vacuoles near cytoplasmic membrane in fibroblasts and macrophages |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Large vacuoles with either myelinic or granular osmiophilic bodies |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
38
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
41
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|