|
1
|
(HPO:0002665)
|
Lymphoma |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
2
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
5
|
(HPO:0003045)
|
Abnormality of the patella |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
6
|
(HPO:0006498)
|
Aplasia/Hypoplasia of the patella |
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0100242)
|
Sarcoma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0000446)
|
Narrow nasal bridge |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
9
|
(HPO:0000957)
|
Cafe-au-lait spot |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
12
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
13
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
14
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
15
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0006501)
|
Aplasia/Hypoplasia of the radius |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
18
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
20
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
|
21
|
(HPO:0000417)
|
Slender nose |
|
|
|
|
5 / 7739
|
|
22
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
23
|
(HPO:0001070)
|
Mottled pigmentation |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
|
25
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
|
26
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
27
|
(HPO:0003422)
|
Vertebral segmentation defect |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
|
28
|
(HPO:0005198)
|
Stiff interphalangeal joints |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
30
|
(OMIM)
|
Infantile diarrhea |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Unusual ears |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Long slender nose |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
34
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
|
35
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
36
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
|
37
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
|
38
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
|
39
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
|
40
|
(OMIM)
|
Mottled or stippled pigmentation |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
42
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|