|
1
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000280)
|
Coarse facial features |
Occasional [Orphanet]
|
|
|
|
189 / 7739
|
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
6
|
(HPO:0000574)
|
Thick eyebrow |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
8
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
|
9
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0000154)
|
Wide mouth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
11
|
(HPO:0000325)
|
Triangular face |
Frequent [Orphanet]
|
|
|
|
91 / 7739
|
|
12
|
(HPO:0000307)
|
Pointed chin |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
13
|
(HPO:0009700)
|
Finger symphalangism |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
14
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
15
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
16
|
(HPO:0000349)
|
Widow's peak |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
17
|
(HPO:0011305)
|
Partial absence of toe |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
20
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
21
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
22
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
23
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
24
|
(HPO:0000341)
|
Narrow forehead |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
25
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
26
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
27
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
28
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
29
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
30
|
(HPO:0004220)
|
Short middle phalanx of the 5th finger |
|
|
|
|
17 / 7739
|
|
31
|
(HPO:0004227)
|
Short distal phalanx of the 5th finger |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
33
|
(HPO:0010959)
|
Congenital cystic adenomatoid malformation of the lung |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Hypo/aplasia of terminal fifth digits |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Abnormal phalanges |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Pre- and postnatal short stature |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Normal or only mildly reduced intelligence |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Flat malar area |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Nail dysplasia/aplasia |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Tiny fingernails |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0011362)
|
Abnormal hair quantity |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
43
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
44
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
45
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
46
|
(HPO:0012252)
|
Abnormal respiratory system morphology |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
47
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
48
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
49
|
(HPO:0001798)
|
Anonychia |
|
|
|
|
28 / 7739
|