|
1
|
(HPO:0000230)
|
Gingivitis |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
2
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
3
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
4
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
5
|
(HPO:0000987)
|
Atypical scarring of skin |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
6
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
9
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
10
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
11
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
12
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
13
|
(HPO:0001999)
|
Abnormal facial shape |
Frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
14
|
(HPO:0002652)
|
Skeletal dysplasia |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
17
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
18
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
19
|
(HPO:0100813)
|
Testicular torsion |
Very frequent [Orphanet]
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0100678)
|
Premature skin wrinkling |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
21
|
(HPO:0001595)
|
Abnormality of the hair |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
22
|
(HPO:0009125)
|
Lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
23
|
(HPO:0003394)
|
Muscle cramps |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
24
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
27
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
28
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
29
|
(HPO:0000274)
|
Small face |
|
|
|
|
18 / 7739
|
|
30
|
(HPO:0000387)
|
Absent earlobe |
|
|
|
|
5 / 7739
|
|
31
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
32
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
33
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
34
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
35
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
36
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
37
|
(HPO:0001075)
|
Atrophic scars |
|
|
|
|
15 / 7739
|
|
38
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
39
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
40
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
41
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
42
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
|
43
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
44
|
(HPO:0002974)
|
Radioulnar synostosis |
|
|
|
|
52 / 7739
|
|
45
|
(HPO:0007469)
|
Palmoplantar cutis gyrata |
|
|
|
|
2 / 7739
|
|
46
|
(HPO:0010511)
|
Long toe |
|
|
|
|
9 / 7739
|
|
47
|
(HPO:0011308)
|
Slender toe |
|
|
|
|
2 / 7739
|