1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
3
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
4
|
(HPO:0003045)
|
Abnormality of the patella |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
5
|
(HPO:0001373)
|
Joint dislocation |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
6
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
7
|
(HPO:0000062)
|
Ambiguous genitalia |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
8
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
9
|
(HPO:0009811)
|
Abnormality of the elbow |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
10
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
11
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
12
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
13
|
(HPO:0009775)
|
Amniotic constriction ring |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
14
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
15
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
16
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
17
|
(HPO:0005739)
|
Posterior subluxation of radial head |
|
|
|
|
1 / 7739
|
18
|
(HPO:0005829)
|
Maldevelopment of radioulnar joint |
|
|
|
|
1 / 7739
|
19
|
(HPO:0009760)
|
Antecubital pterygium |
|
|
|
|
5 / 7739
|
20
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
21
|
(OMIM)
|
Limited elbow extension with unimpeded elbow flexion |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Antecubial webbing |
|
|
|
|
1 / 7739
|
23
|
(HPO:0003011)
|
Abnormality of the musculature |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
24
|
(HPO:0002803)
|
Congenital contracture |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
25
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
26
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
27
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|