1
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
2
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
3
|
(HPO:0000269)
|
Prominent occiput |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
4
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
5
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
6
|
(HPO:0000308)
|
Microretrognathia |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
7
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
8
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
9
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
10
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
11
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
13
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
14
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
15
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
16
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
17
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
|
|
103 / 7739
|
18
|
(HPO:0001539)
|
Omphalocele |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
19
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
20
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
21
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
22
|
(HPO:0003298)
|
Spina bifida occulta |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
23
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
24
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
25
|
(HPO:0005048)
|
Synostosis of carpal bones |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
26
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
27
|
(HPO:0006487)
|
Bowing of the long bones |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
28
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
29
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
30
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
31
|
(HPO:0005257)
|
Thoracic hypoplasia |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
32
|
(HPO:0011001)
|
Increased bone mineral density |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
33
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
34
|
(HPO:0004437)
|
Cranial hyperostosis |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
35
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
36
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
37
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
38
|
(HPO:0012368)
|
Flat face |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
39
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
40
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
41
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
42
|
(HPO:0001804)
|
Hypoplastic fingernail |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
43
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
44
|
(HPO:0009466)
|
Radial deviation of finger |
Very frequent [Orphanet]
|
|
|
|
101 / 7739
|
45
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
46
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
47
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
48
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
49
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
50
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
51
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
52
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
53
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
54
|
(HPO:0000283)
|
Broad face |
|
|
|
|
12 / 7739
|
55
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
56
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
57
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
58
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
59
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
60
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
61
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
62
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
63
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
64
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
65
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
66
|
(HPO:0001782)
|
Bulbous tips of toes |
|
|
|
|
2 / 7739
|
67
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
68
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
69
|
(HPO:0002694)
|
Sclerosis of skull base |
|
|
|
|
10 / 7739
|
70
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
71
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
72
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
73
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
74
|
(HPO:0003031)
|
Ulnar bowing |
|
|
|
|
16 / 7739
|
75
|
(HPO:0003304)
|
Spondylolysis |
|
|
|
|
11 / 7739
|
76
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|
77
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
78
|
(HPO:0006160)
|
Irregular metacarpals |
|
|
|
|
1 / 7739
|
79
|
(HPO:0006381)
|
Rudimentary fibula |
|
|
|
|
4 / 7739
|
80
|
(HPO:0008087)
|
Nonossified fifth metatarsal |
|
|
|
|
2 / 7739
|
81
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
82
|
(HPO:0009467)
|
Radial deviation of the 2nd finger |
|
|
|
|
6 / 7739
|
83
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
84
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
85
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
86
|
(HPO:0010109)
|
Short hallux |
|
|
|
|
27 / 7739
|
87
|
(HPO:0010557)
|
Overlapping fingers |
|
|
|
|
9 / 7739
|
88
|
(HPO:0010559)
|
Vertical clivus |
|
|
|
|
3 / 7739
|
89
|
(HPO:0010560)
|
Undulate clavicles |
|
|
|
|
1 / 7739
|
90
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
91
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
92
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
93
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|