1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
2
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
3
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
|
|
|
|
132 / 7739
|
4
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
5
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
6
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
7
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
8
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
10
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
11
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
12
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
13
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
14
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
15
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
16
|
(HPO:0000041)
|
Chordee |
|
|
|
|
11 / 7739
|
17
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
18
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
19
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
20
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
21
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
22
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
23
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
24
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
25
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
26
|
(HPO:0000706)
|
Unerupted tooth |
|
|
|
|
10 / 7739
|
27
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
28
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
29
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
30
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
31
|
(HPO:0001230)
|
Broad metacarpals |
|
|
|
|
17 / 7739
|
32
|
(HPO:0001739)
|
Abnormality of the nasopharynx |
|
|
|
|
16 / 7739
|
33
|
(HPO:0001742)
|
Nasal obstruction |
|
|
|
|
5 / 7739
|
34
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
35
|
(HPO:0001783)
|
Broad metatarsal |
|
|
|
|
9 / 7739
|
36
|
(HPO:0001800)
|
Hypoplastic toenails |
|
|
|
|
74 / 7739
|
37
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
38
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
39
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
40
|
(HPO:0002676)
|
Cloverleaf skull |
|
|
|
|
14 / 7739
|
41
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
42
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
43
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
44
|
(HPO:0005864)
|
Pseudoarthrosis |
|
|
|
|
3 / 7739
|
45
|
(HPO:0006009)
|
Broad phalanx |
|
|
|
|
11 / 7739
|
46
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
47
|
(HPO:0008905)
|
Rhizomelia |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
48
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
49
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
50
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
51
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
52
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
53
|
(OMIM)
|
Progressive rib expansion |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Kleeblattschaedel deformity |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Short, bowed limbs |
|
|
|
|
2 / 7739
|
56
|
(OMIM)
|
Irregular areas of radiolucency in metaphyses |
|
|
|
|
1 / 7739
|
57
|
(MedDRA:10017322)
|
Fractures |
|
|
|
|
18 / 7739
|
58
|
(MedDRA:10017076)
|
Fracture |
|
|
|
|
18 / 7739
|
59
|
(OMIM)
|
Broad, short hands |
|
|
|
|
14 / 7739
|
60
|
(OMIM)
|
Short, broad metacarpals |
|
|
|
|
2 / 7739
|
61
|
(OMIM)
|
Short, broad phalanges |
|
|
|
|
3 / 7739
|
62
|
(OMIM)
|
Broad, short feet |
|
|
|
|
8 / 7739
|
63
|
(OMIM)
|
Short, broad metatarsal |
|
|
|
|
3 / 7739
|
64
|
(OMIM)
|
Pretibial dimples |
|
|
|
|
1 / 7739
|
65
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
66
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
67
|
(HPO:0011849)
|
Abnormal bone ossification |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
68
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
69
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
70
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
71
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|
72
|
(HPO:0009826)
|
Limb undergrowth |
|
|
|
|
8 / 7739
|