1
|
(HPO:0000046)
|
Scrotal hypoplasia |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
2
|
(HPO:0000154)
|
Wide mouth |
Occasional [Orphanet]
7.5000 % [HPO]
|
|
|
|
137 / 7739
|
3
|
(HPO:0000162)
|
Glossoptosis |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
4
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
5
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
89.0000 % [HPO]
|
|
|
|
277 / 7739
|
6
|
(HPO:0000274)
|
Small face |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
7
|
(HPO:0000294)
|
Low anterior hairline |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
8
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
9
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
10
|
(HPO:0000384)
|
Preauricular skin tag |
Occasional [Orphanet]
7.5000 % [HPO]
|
|
|
|
62 / 7739
|
11
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
40.0000 % [HPO]
|
|
|
|
164 / 7739
|
12
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
13
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
7.5000 % [HPO]
|
|
|
|
76 / 7739
|
14
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
7.5000 % [HPO]
|
|
|
|
576 / 7739
|
15
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
89.0000 % [HPO]
|
|
|
|
328 / 7739
|
16
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
17
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
18
|
(HPO:0000625)
|
Cleft eyelid |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
19
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
20
|
(HPO:0000689)
|
Dental malocclusion |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
21
|
(HPO:0000834)
|
Abnormality of the adrenal glands |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
22
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
23
|
(HPO:0002006)
|
Facial cleft |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
24
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
25
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
26
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
27
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
28
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
29
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
30
|
(HPO:0005701)
|
Multiple enchondromatosis |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
31
|
(HPO:0006482)
|
Abnormality of dental morphology |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
32
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
33
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
34
|
(HPO:0010515)
|
Aplasia/Hypoplasia of the thymus |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
35
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
37.0000 % [HPO]
|
|
|
|
272 / 7739
|
36
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
37
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
38
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
39
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
40
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
41
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
42
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
43
|
(HPO:0001332)
|
Dystonia |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
44
|
(HPO:0005990)
|
Thyroid hypoplasia |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
45
|
(HPO:0001595)
|
Abnormality of the hair |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
46
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
47
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
48
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
49
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
50
|
(HPO:0009796)
|
Branchial cyst |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
51
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
36.0000 % [HPO]
|
|
|
|
49 / 7739
|
52
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
53
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
54
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
55
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
56
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
57
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
58
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
59
|
(HPO:0009115)
|
Aplasia/hypoplasia involving the skeleton |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
60
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
61
|
(HPO:0000153)
|
Abnormality of the mouth |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
62
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
63
|
(HPO:0000028)
|
Cryptorchidism |
7.5000 % [HPO]
|
|
|
|
347 / 7739
|
64
|
(HPO:0000160)
|
Narrow mouth |
7.5000 % [HPO]
|
|
|
|
188 / 7739
|
65
|
(HPO:0000185)
|
Cleft soft palate |
32.0000 % [HPO]
|
|
|
|
18 / 7739
|
66
|
(HPO:0000197)
|
Abnormality of parotid gland |
7.5000 % [HPO]
|
|
|
|
1 / 7739
|
67
|
(HPO:0000347)
|
Micrognathia |
78.0000 % [HPO]
|
|
|
|
426 / 7739
|
68
|
(HPO:0000377)
|
Abnormality of the pinna |
77.0000 % [HPO]
|
|
|
|
111 / 7739
|
69
|
(HPO:0000508)
|
Ptosis |
7.5000 % [HPO]
|
|
|
|
459 / 7739
|
70
|
(HPO:0000636)
|
Upper eyelid coloboma |
7.5000 % [HPO]
|
|
|
|
7 / 7739
|
71
|
(HPO:0000652)
|
Lower eyelid coloboma |
69.0000 % [HPO]
|
|
|
|
9 / 7739
|
72
|
(HPO:0001249)
|
Intellectual disability |
5.0000 % [HPO]
|
|
|
|
1089 / 7739
|
73
|
(HPO:0007633)
|
Bilateral microphthalmos |
7.5000 % [HPO]
|
|
|
|
13 / 7739
|
74
|
(HPO:0007678)
|
Lacrimal duct stenosis |
7.5000 % [HPO]
|
|
|
|
8 / 7739
|
75
|
(HPO:0007776)
|
Sparse lower eyelashes |
53.0000 % [HPO]
|
|
|
|
3 / 7739
|
76
|
(HPO:0009554)
|
Projection of scalp hair onto lateral cheek |
26.0000 % [HPO]
|
|
|
|
2 / 7739
|
77
|
(HPO:0009555)
|
Hypoplasia of the pharynx |
7.5000 % [HPO]
|
|
|
|
2 / 7739
|
78
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
7.5000 % [HPO]
|
|
|
|
355 / 7739
|