|
1
|
(HPO:0000175)
|
Cleft palate |
Very frequent [IBIS]
|
|
19571066
|
IBIS
|
349 / 7739
|
|
2
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
19571066
|
IBIS
|
309 / 7739
|
|
3
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
5345097
|
IBIS
|
212 / 7739
|
|
4
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
Very frequent [IBIS]
|
|
19571066
|
IBIS
|
93 / 7739
|
|
5
|
(HPO:0005684)
|
Distal arthrogryposis |
Very frequent [IBIS]
|
|
19571066
|
IBIS
|
31 / 7739
|
|
6
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
5345097
|
IBIS
|
288 / 7739
|
|
7
|
(HPO:0000176)
|
Submucous cleft hard palate |
|
|
5345097
|
IBIS
|
19 / 7739
|
|
8
|
(HPO:0000193)
|
Bifid uvula |
|
|
27714920
|
IBIS
|
66 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
24726473
|
IBIS
|
1232 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
24726473
|
IBIS
|
705 / 7739
|
|
11
|
(HPO:0000028)
|
Cryptorchidism |
|
|
5345097
|
IBIS
|
347 / 7739
|
|
12
|
(HPO:0000508)
|
Ptosis |
|
|
24726473
|
IBIS
|
459 / 7739
|
|
13
|
(HPO:0001193)
|
Ulnar deviation of the hand or of fingers of the hand |
|
|
5345097
|
IBIS
|
17 / 7739
|
|
14
|
(HPO:0001836)
|
Camptodactyly of toe |
|
|
5345097
|
IBIS
|
27 / 7739
|
|
15
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
5345097
|
IBIS
|
79 / 7739
|
|
16
|
(HPO:0012385)
|
Camptodactyly |
|
|
19571066
|
IBIS
|
113 / 7739
|
|
17
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
5345097
|
IBIS
|
296 / 7739
|
|
18
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
5345097
|
IBIS
|
298 / 7739
|
|
19
|
(HPO:0000324)
|
Facial asymmetry |
|
|
5345097
|
IBIS
|
57 / 7739
|
|
20
|
(HPO:0000347)
|
Micrognathia |
|
|
24726473
|
IBIS
|
426 / 7739
|
|
21
|
(HPO:0001845)
|
Overlapping toe |
|
|
5345097
|
IBIS
|
18 / 7739
|
|
22
|
(HPO:0005750)
|
Contractures of the joints of the lower limbs |
|
|
27714920
|
IBIS
|
5 / 7739
|
|
23
|
(HPO:0100360)
|
Contractures of the joints of the upper limbs |
|
|
27714920
|
IBIS
|
3 / 7739
|
|
24
|
(OMIM)
|
Flexion of fingers when hand dorsiflexed (pseudocamptodactyly) |
|
|
19571066
|
IBIS
|
2 / 7739
|
|
25
|
(OMIM)
|
Hypoplastic flexion creases |
|
|
19571066
|
IBIS
|
2 / 7739
|
|
26
|
(OMIM)
|
Overriding fingers (neonate) |
|
|
19571066
|
IBIS
|
2 / 7739
|
|
27
|
(HPO:0003049)
|
Ulnar deviation of the wrist |
|
|
19571066
|
IBIS
|
6 / 7739
|
|
28
|
(HPO:0001848)
|
Calcaneovalgus deformity |
|
|
19571066
|
IBIS
|
12 / 7739
|
|
29
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
19571066
|
IBIS
|
85 / 7739
|
|
30
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
19571066
|
IBIS
|
49 / 7739
|
|
31
|
(HPO:0007099)
|
Arnold-Chiari type I malformation |
|
|
24726473
|
IBIS
|
18 / 7739
|
|
32
|
(HPO:0001220)
|
Interphalangeal joint contracture of finger |
|
|
5345097
|
IBIS
|
5 / 7739
|
|
33
|
(HPO:0005830)
|
Flexion contracture of toe |
|
|
5345097
|
IBIS
|
9 / 7739
|
|
34
|
(HPO:0009465)
|
Ulnar deviation of finger |
|
|
5345097
|
IBIS
|
48 / 7739
|
|
35
|
(HPO:0011343)
|
Moderate global developmental delay |
|
|
27714920
|
IBIS
|
5 / 7739
|
|
36
|
(HPO:0001249)
|
Intellectual disability |
|
|
27714920
|
IBIS
|
1089 / 7739
|