1
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
2
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
3
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
6
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
7
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
8
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
9
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
10
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
11
|
(HPO:0000912)
|
Sprengel anomaly |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
12
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
13
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
14
|
(HPO:0001357)
|
Plagiocephaly |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
15
|
(HPO:0001539)
|
Omphalocele |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
16
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
17
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
18
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
20
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
21
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
22
|
(HPO:0001591)
|
Bell-shaped thorax |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
23
|
(HPO:0003027)
|
Mesomelia |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
24
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
25
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
26
|
(HPO:0000598)
|
Abnormality of the ear |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
27
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
28
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
29
|
(HPO:0001804)
|
Hypoplastic fingernail |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
30
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
32
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
33
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
34
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
35
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
36
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
37
|
(HPO:0000485)
|
Megalocornea |
|
|
|
|
26 / 7739
|
38
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
39
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
40
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
41
|
(HPO:0000890)
|
Long clavicles |
|
|
|
|
13 / 7739
|
42
|
(HPO:0000907)
|
Anterior rib cupping |
|
|
|
|
12 / 7739
|
43
|
(HPO:0000922)
|
Posterior rib cupping |
|
|
|
|
6 / 7739
|
44
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
45
|
(HPO:0000947)
|
Dumbbell-shaped long bone |
|
|
|
|
5 / 7739
|
46
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
47
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
|
|
31 / 7739
|
48
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
49
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
|
|
63 / 7739
|
50
|
(HPO:0001800)
|
Hypoplastic toenails |
|
|
|
|
74 / 7739
|
51
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
52
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
53
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
54
|
(HPO:0003175)
|
Hypoplastic ischia |
|
|
|
|
12 / 7739
|
55
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
56
|
(HPO:0003375)
|
Narrow greater sacrosciatic notches |
|
|
|
|
13 / 7739
|
57
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|
58
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
59
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
60
|
(HPO:0005442)
|
Widely patent coronal suture |
|
|
|
|
3 / 7739
|
61
|
(HPO:0005476)
|
Widely patent sagittal suture |
|
|
|
|
2 / 7739
|
62
|
(HPO:0005622)
|
Broad long bones |
|
|
|
|
8 / 7739
|
63
|
(HPO:0006645)
|
Thin clavicles |
|
|
|
|
4 / 7739
|
64
|
(HPO:0008451)
|
Posterior vertebral hypoplasia |
|
|
|
|
2 / 7739
|
65
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
66
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
67
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
68
|
(HPO:0100865)
|
Broad ischia |
|
|
|
|
4 / 7739
|
69
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|