1
|
(HPO:0000013)
|
Hypoplasia of the uterus |
|
|
|
|
21 / 7739
|
2
|
(HPO:0000141)
|
Amenorrhea |
|
|
|
|
16 / 7739
|
3
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
4
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
5
|
(HPO:0002024)
|
Malabsorption |
|
|
|
|
142 / 7739
|
6
|
(HPO:0002289)
|
Alopecia universalis |
|
|
|
|
20 / 7739
|
7
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
8
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
|
|
42 / 7739
|
9
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
10
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
11
|
(HPO:0009771)
|
Osteolytic defects of the phalanges of the hand |
|
|
|
|
17 / 7739
|
12
|
(HPO:0005720)
|
Shortening of all metacarpals |
|
|
|
|
12 / 7739
|
13
|
(HPO:0010049)
|
Short metacarpal |
rare [HPO:skoehler]
|
|
|
|
99 / 7739
|
14
|
(HPO:0004686)
|
Short third metatarsal |
|
|
|
|
9 / 7739
|
15
|
(HPO:0010743)
|
Short metatarsal |
rare [HPO:skoehler]
|
|
|
|
56 / 7739
|
16
|
(OMIM)
|
Atrophic breast tissue |
|
|
|
|
1 / 7739
|
17
|
(HPO:0008724)
|
Hypoplasia of the ovary |
|
|
|
|
6 / 7739
|
18
|
(HPO:0002758)
|
Osteoarthritis |
|
|
|
|
78 / 7739
|
19
|
(OMIM)
|
Fatigue fractures |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Slipping of multiple epiphyses |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Cystic lesions of metaphyses |
|
|
|
|
1 / 7739
|
22
|
(HPO:0002797)
|
Osteolysis |
|
|
|
|
68 / 7739
|
23
|
(OMIM)
|
Bone fragmentation at tendinous insertions |
|
|
|
|
1 / 7739
|
24
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
25
|
(OMIM)
|
Muscle cramps, painful, recurrent |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Muscle cramps affect the upper and lower limbs |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Muscle cramps may affect jaw muscles |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Antinuclear antibody present, speckled pattern |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Increased serum IgE |
|
|
|
|
4 / 7739
|
30
|
(OMIM)
|
Increased serum uric acid |
|
|
|
|
1 / 7739
|
31
|
(HPO:0001156)
|
Brachydactyly syndrome |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
32
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|