1
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
2
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
4
|
(HPO:0000215)
|
Thick upper lip vermilion |
|
|
|
|
17 / 7739
|
5
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
6
|
(HPO:0007665)
|
Curly eyelashes |
|
|
|
|
6 / 7739
|
7
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
8
|
(HPO:0000294)
|
Low anterior hairline |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
10
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
11
|
(HPO:0000926)
|
Platyspondyly |
Frequent [Orphanet]
|
|
|
|
150 / 7739
|
12
|
(HPO:0000154)
|
Wide mouth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
13
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
14
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
15
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
16
|
(HPO:0002652)
|
Skeletal dysplasia |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
17
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
18
|
(HPO:0001654)
|
Abnormality of the heart valves |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
19
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
20
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
21
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
22
|
(HPO:0010109)
|
Short hallux |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
23
|
(HPO:0001869)
|
Deep plantar creases |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
24
|
(HPO:0010055)
|
Broad hallux |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
25
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
26
|
(HPO:0001640)
|
Cardiomegaly |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
27
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
28
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
29
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
30
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
31
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
32
|
(HPO:0002162)
|
Low posterior hairline |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
33
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
34
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
35
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
36
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
37
|
(HPO:0001004)
|
Lymphedema |
|
|
|
|
62 / 7739
|
38
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
39
|
(HPO:0001520)
|
Large for gestational age |
|
|
|
|
34 / 7739
|
40
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
|
|
34 / 7739
|
41
|
(HPO:0001698)
|
Pericardial effusion |
|
|
|
|
20 / 7739
|
42
|
(HPO:0002690)
|
Large sella turcica |
|
|
|
|
12 / 7739
|
43
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
44
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
|
|
21 / 7739
|
45
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
46
|
(HPO:0004540)
|
Congenital, generalized hypertrichosis |
|
|
|
|
11 / 7739
|
47
|
(HPO:0004634)
|
Cuboid-shaped vertebral bodies |
|
|
|
|
4 / 7739
|
48
|
(HPO:0004975)
|
Erlenmeyer flask deformity of the femurs |
|
|
|
|
8 / 7739
|
49
|
(HPO:0005129)
|
Congenital hypertrophy of left ventricle |
|
|
|
|
1 / 7739
|
50
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
51
|
(HPO:0005445)
|
Widened posterior fossa |
|
|
|
|
1 / 7739
|
52
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
53
|
(HPO:0008822)
|
Hypoplastic ischiopubic rami |
|
|
|
|
1 / 7739
|
54
|
(HPO:0010068)
|
Broad first metatarsal |
|
|
|
|
3 / 7739
|
55
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
56
|
(OMIM)
|
Long curly eyelashes |
|
|
|
|
3 / 7739
|
57
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
58
|
(OMIM)
|
Widened ribs |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Enlarged sella |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Hypoplastic ishchiopubic rami |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Narrow obturator foramen |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Bands of growth arrest |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Enlarged medullary canal |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
Short, broad first toe |
|
|
|
|
1 / 7739
|
65
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
66
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
67
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
68
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
69
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
70
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|