|
1
|
(HPO:0000023)
|
Inguinal hernia |
rare [HPO:skoehler]
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
6
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
7
|
(HPO:0000389)
|
Chronic otitis media |
rare [HPO:skoehler]
|
|
|
|
64 / 7739
|
|
8
|
(HPO:0000483)
|
Astigmatism |
rare [HPO:skoehler]
|
|
|
|
67 / 7739
|
|
9
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
10
|
(HPO:0000668)
|
Hypodontia |
rare [HPO:skoehler]
|
|
|
|
81 / 7739
|
|
11
|
(HPO:0000678)
|
Dental crowding |
rare [HPO:skoehler]
|
|
|
|
65 / 7739
|
|
12
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
13
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
14
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
16
|
(HPO:0001380)
|
Ligamentous laxity |
|
|
|
|
8 / 7739
|
|
17
|
(HPO:0001620)
|
High pitched voice |
rare [HPO:skoehler]
|
|
|
|
32 / 7739
|
|
18
|
(HPO:0001956)
|
Truncal obesity |
rare [HPO:skoehler]
|
|
|
|
39 / 7739
|
|
19
|
(HPO:0002162)
|
Low posterior hairline |
rare [HPO:skoehler]
|
|
|
|
88 / 7739
|
|
20
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
21
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
22
|
(HPO:0003048)
|
Radial head subluxation |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
23
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
24
|
(HPO:0003502)
|
Mild short stature |
|
|
|
|
19 / 7739
|
|
25
|
(HPO:0003561)
|
Birth length less than 3rd percentile |
|
|
|
|
10 / 7739
|
|
26
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
|
27
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
28
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
29
|
(HPO:0010535)
|
Sleep apnea |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
|
30
|
(HPO:0010536)
|
Central sleep apnea |
|
|
|
|
4 / 7739
|
|
31
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
32
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
33
|
(OMIM)
|
Short stature, mildly disproportionate |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Conductive hearing loss, mild bilateral (rare) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Cauliflower ear deformity (rare) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Esotropia with hypermetropia and strabismus (rare) |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
38
|
(OMIM)
|
Class III malocclusion (rare) |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Supernumerary conical tooth (rare) |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Short supple neck |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0000887)
|
Cupped ribs |
|
|
|
|
9 / 7739
|
|
42
|
(OMIM)
|
Vertebral endplate indentations |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Patellae dislocation/lateral displacement |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Metaphyseal changes, mild |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Decreased range of movement of knees |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Decreased range of movement of elbows |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Decreased range of movement of proximal interphalangeal joints |
|
|
|
|
1 / 7739
|
|
48
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
49
|
(OMIM)
|
Brachymetacarpalia |
|
|
|
|
3 / 7739
|
|
50
|
(OMIM)
|
Stub thumb |
|
|
|
|
2 / 7739
|
|
51
|
(OMIM)
|
Bilateral transverse palmar creases |
|
|
|
|
4 / 7739
|
|
52
|
(OMIM)
|
Single finger flexion crease on 2nd, 4th and 5th fingers (rare) |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Flexible flat feet (rare) |
|
|
|
|
1 / 7739
|
|
54
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
55
|
(OMIM)
|
Warm and engaging personality |
|
|
|
|
1 / 7739
|
|
56
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
57
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
58
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|