1
|
(HPO:0001761)
|
Pes cavus |
Frequent [Orphanet]
|
|
|
|
225 / 7739
|
2
|
(HPO:0000176)
|
Submucous cleft hard palate |
|
|
|
|
19 / 7739
|
3
|
(HPO:0000275)
|
Narrow face |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
4
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
6
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
7
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
8
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
9
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
10
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
11
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
12
|
(HPO:0002967)
|
Cubitus valgus |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
13
|
(HPO:0000964)
|
Eczema |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
14
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
15
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
16
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
17
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
18
|
(HPO:0000161)
|
Median cleft lip |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
19
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
20
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
21
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
22
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
23
|
(HPO:0001061)
|
Acne |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
24
|
(HPO:0001836)
|
Camptodactyly of toe |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
25
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
26
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
27
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
28
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
29
|
(HPO:0001137)
|
Alternating esotropia |
|
|
|
|
4 / 7739
|
30
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
31
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
32
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
33
|
(HPO:0002236)
|
Frontal upsweep of hair |
|
|
|
|
8 / 7739
|
34
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
35
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
36
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
37
|
(HPO:0006289)
|
Agenesis of central incisor |
|
|
|
|
3 / 7739
|
38
|
(HPO:0006293)
|
Agenesis of maxillary central incisor |
|
|
|
|
1 / 7739
|
39
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
40
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
41
|
(HPO:0010809)
|
Broad uvula |
|
|
|
|
1 / 7739
|
42
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
43
|
(OMIM)
|
Anterior cowlick |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Limited elbow motion due to subluxation |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Mild spasticity |
|
|
|
|
3 / 7739
|
46
|
(OMIM)
|
Frontal prominence |
|
|
|
|
2 / 7739
|
47
|
(OMIM)
|
Absent upper central incisors |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Midline notch of upper lip |
|
|
|
|
1 / 7739
|
49
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
50
|
(OMIM)
|
Flat nasal bridge Broad nasal tip |
|
|
|
|
1 / 7739
|
51
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
52
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
53
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
54
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
55
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
56
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
57
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|