|
1
|
(HPO:0000925)
|
Abnormality of the vertebral column |
|
|
|
|
20 / 7739
|
|
2
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
3
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0002715)
|
Abnormality of the immune system |
|
|
|
|
46 / 7739
|
|
6
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
7
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
8
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
10
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
11
|
(HPO:0006028)
|
Metaphyseal cupping of metacarpals |
|
|
|
|
4 / 7739
|
|
12
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
13
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
14
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
|
15
|
(OMIM)
|
Disproportionate dwarfism |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Normal facies |
|
|
|
|
9 / 7739
|
|
17
|
(OMIM)
|
Joint laxity, mild |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Normal spine |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Normal pelvis |
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0009815)
|
Aplasia/hypoplasia of the extremities |
|
|
|
|
6 / 7739
|
|
21
|
(OMIM)
|
Genu varus |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Normal hair |
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
24
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
25
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|