|
1
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
3
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
|
4
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
5
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
6
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
7
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
8
|
(HPO:0000772)
|
Abnormality of the ribs |
|
|
|
|
146 / 7739
|
|
9
|
(HPO:0000905)
|
Progressive clavicular acroosteolysis |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
11
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
12
|
(HPO:0001387)
|
Joint stiffness |
|
|
|
|
322 / 7739
|
|
13
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
|
14
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
16
|
(HPO:0002621)
|
Atherosclerosis |
|
|
|
|
33 / 7739
|
|
17
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
18
|
(HPO:0002973)
|
Abnormality of the forearm |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0005585)
|
Spotty hyperpigmentation |
|
|
|
|
8 / 7739
|
|
21
|
(HPO:0009839)
|
Osteolytic defects of the distal phalanges of the hand |
|
|
|
|
6 / 7739
|
|
22
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
|
|
21 / 7739
|
|
23
|
(HPO:0011703)
|
Sinus tachycardia |
|
|
|
|
5 / 7739
|
|
24
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
25
|
(HPO:0100578)
|
Lipoatrophy |
|
|
|
|
30 / 7739
|
|
26
|
(OMIM)
|
Mandibular osteolysis |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Restricted opening of mouth |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0011712)
|
Right bundle branch block |
|
|
|
|
34 / 7739
|
|
29
|
(OMIM)
|
Prominent subcutaneous venous patterning |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Dyspnea on exertion (secondary to scoliosis, in some patients) |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Osteolysis of clavicles |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Osteolysis of ribs |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0005897)
|
Severe generalized osteoporosis |
|
|
|
|
4 / 7739
|
|
34
|
(OMIM)
|
Osteolysis, severe (of mandible, clavicles, ribs, distal phalanges, and radii) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Widely open cranial sutures |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Mobility restriction of elbows and knees |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Osteolysis of radii |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Mobility restriction of hands and fingers |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Osteolysis of distal phalanges |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Scalp hair sparse to absent, beginning in second decade of life |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Generalized lipoatrophy |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Very low leptin level |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Low 25-OH-vitamin D level |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Low fasting glucose (in some patients) |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|