|
1
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0000271)
|
Abnormality of the face |
Frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
Occasional [Orphanet]
|
|
|
|
290 / 7739
|
|
6
|
(HPO:0000272)
|
Malar flattening |
Occasional [Orphanet]
|
|
|
|
277 / 7739
|
|
7
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
8
|
(HPO:0000691)
|
Microdontia |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0000485)
|
Megalocornea |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
12
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
13
|
(HPO:0000627)
|
Posterior embryotoxon |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
14
|
(HPO:0000819)
|
Diabetes mellitus |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
15
|
(HPO:0000325)
|
Triangular face |
Occasional [Orphanet]
|
|
|
|
91 / 7739
|
|
16
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
17
|
(HPO:0000787)
|
Nephrolithiasis |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
18
|
(HPO:0000593)
|
Abnormality of the anterior chamber |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
19
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
20
|
(HPO:0002486)
|
Myotonia |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
|
21
|
(HPO:0000615)
|
Abnormality of the pupil |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
22
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
23
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
24
|
(HPO:0100678)
|
Premature skin wrinkling |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
25
|
(HPO:0000506)
|
Telecanthus |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
26
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
|
|
|
|
22 / 7739
|
|
27
|
(HPO:0000855)
|
Insulin resistance |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
28
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
29
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
30
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
31
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
32
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
33
|
(HPO:0009125)
|
Lipodystrophy |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
34
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
35
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
36
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
37
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
38
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
39
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
40
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
41
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
42
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
43
|
(HPO:0000558)
|
Rieger anomaly |
|
|
|
|
5 / 7739
|
|
44
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
45
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
|
46
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
47
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
48
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
|
49
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
50
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
51
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
52
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
53
|
(HPO:0002715)
|
Abnormality of the immune system |
|
|
|
|
46 / 7739
|
|
54
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
55
|
(HPO:0003074)
|
Hyperglycemia |
|
|
|
|
37 / 7739
|
|
56
|
(HPO:0003561)
|
Birth length less than 3rd percentile |
|
|
|
|
10 / 7739
|
|
57
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
58
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
59
|
(HPO:0010580)
|
Enlarged epiphyses |
|
|
|
|
14 / 7739
|
|
60
|
(HPO:0010751)
|
Chin dimple |
|
|
|
|
16 / 7739
|
|
61
|
(OMIM)
|
Birth weight less than 3rd percentile |
|
|
|
|
6 / 7739
|
|
62
|
(OMIM)
|
Gracile diaphyses |
|
|
|
|
1 / 7739
|
|
63
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
64
|
(OMIM)
|
Dimples (chin, buttocks) |
|
|
|
|
4 / 7739
|
|
65
|
(OMIM)
|
Thin, wrinkled skin |
|
|
|
|
2 / 7739
|
|
66
|
(HPO:0100578)
|
Lipoatrophy |
|
|
|
|
30 / 7739
|
|
67
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
68
|
(OMIM)
|
Frequent illnesses |
|
|
|
|
1 / 7739
|
|
69
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
70
|
(HPO:0007700)
|
Anterior segment dysgenesis |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
|
71
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
72
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
73
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
74
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|