1
|
(HPO:0002006)
|
Facial cleft |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
2
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
3
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
7
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
8
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [Orphanet]
|
|
|
|
309 / 7739
|
9
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
10
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
11
|
(HPO:0009486)
|
Radial deviation of the hand |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
12
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
13
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
14
|
(HPO:0002992)
|
Abnormality of the tibia |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
15
|
(HPO:0005736)
|
Short tibia |
rare [HPO:skoehler]
|
|
|
|
19 / 7739
|
16
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
17
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
18
|
(HPO:0009623)
|
Proximal placement of thumb |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
19
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
20
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
21
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
22
|
(HPO:0000162)
|
Glossoptosis |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
23
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
24
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
25
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
26
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
27
|
(HPO:0001608)
|
Abnormality of the voice |
|
|
|
|
126 / 7739
|
28
|
(HPO:0002827)
|
Hip dislocation |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|
29
|
(HPO:0003038)
|
Fibular hypoplasia |
rare [HPO:skoehler]
|
|
|
|
30 / 7739
|
30
|
(HPO:0006355)
|
Agenesis of mandibular central incisor |
|
|
|
|
2 / 7739
|
31
|
(HPO:0008744)
|
Abnormality of the aryepiglottic fold |
|
|
|
|
1 / 7739
|
32
|
(HPO:0008753)
|
Aplasia of the epiglottis |
|
|
|
|
1 / 7739
|
33
|
(HPO:0008807)
|
Acetabular dysplasia |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
34
|
(HPO:0009094)
|
Cleft lower alveolar ridge |
|
|
|
|
1 / 7739
|
35
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
36
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
37
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
38
|
(HPO:0010752)
|
Cleft mandible |
|
|
|
|
1 / 7739
|
39
|
(OMIM)
|
Absent lower central incisors |
|
|
|
|
2 / 7739
|
40
|
(OMIM)
|
Short, round larynx |
|
|
|
|
1 / 7739
|
41
|
(OMIM)
|
Absent/abnormal epiglottis |
|
|
|
|
1 / 7739
|
42
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
43
|
(OMIM)
|
Pseudoarthrosis of the clavicle (rare) |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Delayed ossification of the skull |
|
|
|
|
1 / 7739
|
45
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
46
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
47
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
48
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
49
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
50
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
51
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
52
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
53
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
54
|
(OMIM)
|
Deformity of the distal extremity of the humerus |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Hypoplastic metacarpal bones |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Fusion of metacarpal bones |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Subluxated thumbs |
|
|
|
|
1 / 7739
|
58
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
59
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
60
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
61
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
62
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
63
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
64
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
65
|
(HPO:0030043)
|
Hip Subluxation |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
66
|
(HPO:0100499)
|
Tibial deviation of toes |
|
|
|
|
1 / 7739
|