1
|
(HPO:0000154)
|
Wide mouth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
2
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
3
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
4
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
5
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
6
|
(HPO:0000280)
|
Coarse facial features |
Occasional [Orphanet]
|
|
|
|
189 / 7739
|
7
|
(HPO:0000288)
|
Abnormality of the philtrum |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
8
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
9
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
10
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
11
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
13
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
14
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
15
|
(HPO:0000581)
|
Blepharophimosis |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
16
|
(HPO:0000795)
|
Abnormality of the urethra |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
17
|
(HPO:0001182)
|
Tapered finger |
Occasional [Orphanet]
|
|
|
|
93 / 7739
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
19
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
20
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
21
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
22
|
(HPO:0002162)
|
Low posterior hairline |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
23
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
24
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Occasional [Orphanet]
|
|
|
|
281 / 7739
|
25
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
26
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
27
|
(HPO:0004383)
|
Hypoplastic left heart |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
28
|
(HPO:0005105)
|
Abnormal nasal morphology |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
29
|
(HPO:0005487)
|
Prominent metopic ridge |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
30
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
31
|
(HPO:0000158)
|
Macroglossia |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
32
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
33
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
34
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
35
|
(HPO:0009928)
|
Thick nasal alae |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
36
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
37
|
(HPO:0011229)
|
Broad eyebrow |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
38
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
39
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
40
|
(HPO:0000349)
|
Widow's peak |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
41
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
42
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
43
|
(HPO:0011362)
|
Abnormal hair quantity |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
44
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
45
|
(HPO:0012471)
|
Thick vermilion border |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
46
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
47
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
48
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
49
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
50
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|