1
|
(HPO:0000232)
|
Everted lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
2
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
3
|
(HPO:0000269)
|
Prominent occiput |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
4
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
5
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
6
|
(HPO:0000540)
|
Hypermetropia |
Occasional [Orphanet]
|
|
|
|
99 / 7739
|
7
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
8
|
(HPO:0000601)
|
Hypotelorism |
Frequent [Orphanet]
|
|
|
|
83 / 7739
|
9
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
10
|
(HPO:0000679)
|
Taurodontia |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
11
|
(HPO:0000691)
|
Microdontia |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
12
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
13
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
14
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
15
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
16
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
17
|
(HPO:0001363)
|
Craniosynostosis |
Frequent [Orphanet]
|
|
|
|
132 / 7739
|
18
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
19
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
20
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
21
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
22
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
23
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
24
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
25
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
26
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
27
|
(HPO:0010299)
|
Abnormality of dentin |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
28
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
29
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
30
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
31
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
33
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
34
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
35
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
36
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
37
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
38
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
39
|
(HPO:0000674)
|
Anodontia |
|
|
|
|
18 / 7739
|
40
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
41
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
42
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
43
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
44
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
45
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
46
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
47
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
48
|
(HPO:0001407)
|
Hepatic cysts |
|
|
|
|
9 / 7739
|
49
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
50
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
|
|
34 / 7739
|
51
|
(HPO:0001799)
|
Short nail |
|
|
|
|
12 / 7739
|
52
|
(HPO:0001816)
|
Thin nail |
|
|
|
|
11 / 7739
|
53
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
54
|
(HPO:0001837)
|
Broad toe |
|
|
|
|
13 / 7739
|
55
|
(HPO:0001970)
|
Tubulointerstitial nephritis |
|
|
|
|
27 / 7739
|
56
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
57
|
(HPO:0002217)
|
Slow-growing hair |
|
|
|
|
22 / 7739
|
58
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
59
|
(HPO:0002901)
|
Hypocalcemia |
|
|
|
|
56 / 7739
|
60
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
61
|
(HPO:0003071)
|
Flattened epiphysis |
|
|
|
|
14 / 7739
|
62
|
(HPO:0004298)
|
Abnormality of the abdominal wall |
|
|
|
|
20 / 7739
|
63
|
(HPO:0004442)
|
Sagittal craniosynostosis |
|
|
|
|
16 / 7739
|
64
|
(HPO:0005567)
|
Renal magnesium wasting |
|
|
|
|
5 / 7739
|
65
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
66
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
67
|
(HPO:0006563)
|
Malformation of the hepatic ductal plate |
|
|
|
|
2 / 7739
|
68
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
69
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
70
|
(HPO:0009880)
|
Broad distal phalanges of all fingers |
|
|
|
|
2 / 7739
|
71
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
|
|
32 / 7739
|