1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
2
|
(HPO:0010719)
|
Abnormality of hair texture |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
3
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
5
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
6
|
(HPO:0200021)
|
Down-sloping shoulders |
|
|
|
|
18 / 7739
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
9
|
(HPO:0005989)
|
Redundant neck skin |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
10
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
11
|
(HPO:0000915)
|
Pectus excavatum of inferior sternum |
|
|
|
|
21 / 7739
|
12
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
13
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
14
|
(HPO:0001852)
|
Sandal gap |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
15
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
16
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
17
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
18
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
19
|
(HPO:0001807)
|
Ridged nail |
|
|
|
|
20 / 7739
|
20
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
21
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
22
|
(HPO:0001161)
|
Hand polydactyly |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
23
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
24
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
25
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
26
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
27
|
(HPO:0000912)
|
Sprengel anomaly |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
28
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
29
|
(HPO:0011431)
|
Fetal fifth finger clinodactyly |
|
|
|
|
14 / 7739
|
30
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
|
|
|
|
132 / 7739
|
31
|
(HPO:0002224)
|
Woolly hair |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
32
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
33
|
(HPO:0010055)
|
Broad hallux |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
34
|
(HPO:0011331)
|
Hemifacial atrophy |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
35
|
(HPO:0000349)
|
Widow's peak |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
36
|
(HPO:0000049)
|
Shawl scrotum |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
37
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
38
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
39
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
40
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
41
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
42
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
43
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
44
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
45
|
(HPO:0002162)
|
Low posterior hairline |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
46
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
47
|
(HPO:0000456)
|
Bifid nasal tip |
|
|
|
|
11 / 7739
|
48
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
49
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
50
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
51
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
52
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
53
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
54
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
55
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
56
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
57
|
(HPO:0001060)
|
Axillary pterygia |
|
|
|
|
4 / 7739
|
58
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
59
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
60
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
61
|
(HPO:0001808)
|
Fragile nails |
|
|
|
|
21 / 7739
|
62
|
(HPO:0001809)
|
Split nail |
|
|
|
|
2 / 7739
|
63
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
64
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
65
|
(HPO:0005278)
|
Hypoplastic nasal tip |
|
|
|
|
1 / 7739
|
66
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
67
|
(HPO:0006585)
|
Congenital pseudoarthrosis of the clavicle |
|
|
|
|
4 / 7739
|
68
|
(HPO:0200053)
|
Hemihypotrophy of lower limb |
|
|
|
|
2 / 7739
|
69
|
(HPO:0000929)
|
Abnormality of the skull |
|
|
|
|
53 / 7739
|
70
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
71
|
(OMIM)
|
Unilateral breast hypoplasia |
|
|
|
|
1 / 7739
|
72
|
(OMIM)
|
Increased interorbital distance (males) |
|
|
|
|
1 / 7739
|
73
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
74
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
75
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
76
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
77
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
78
|
(OMIM)
|
Broad halluces |
|
|
|
|
12 / 7739
|
79
|
(OMIM)
|
Longitudinal splitting |
|
|
|
|
2 / 7739
|
80
|
(OMIM)
|
Thick, wiry hair (females) |
|
|
|
|
1 / 7739
|
81
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
82
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
83
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
84
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
85
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
86
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
87
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
88
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
89
|
(HPO:0012813)
|
Unilateral breast hypoplasia |
|
|
|
|
2 / 7739
|