1
|
(HPO:0001332)
|
Dystonia |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
2
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
3
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0002974)
|
Radioulnar synostosis |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
6
|
(HPO:0000444)
|
Convex nasal ridge |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
7
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
8
|
(HPO:0001822)
|
Hallux valgus |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
9
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
10
|
(HPO:0000294)
|
Low anterior hairline |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
11
|
(HPO:0002315)
|
Headache |
Occasional [Orphanet]
|
|
|
|
175 / 7739
|
12
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
13
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
14
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
15
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
16
|
(HPO:0000929)
|
Abnormality of the skull |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
17
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
18
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
19
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
|
|
|
|
132 / 7739
|
20
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
21
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
22
|
(HPO:0002516)
|
Increased intracranial pressure |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
23
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
24
|
(HPO:0011331)
|
Hemifacial atrophy |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
25
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
26
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
27
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
28
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
29
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
30
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
31
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
32
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
33
|
(HPO:0000263)
|
Oxycephaly |
|
|
|
|
10 / 7739
|
34
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
35
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
36
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
37
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
38
|
(HPO:0000460)
|
Narrow nose |
|
|
|
|
14 / 7739
|
39
|
(HPO:0000557)
|
Buphthalmos |
|
|
|
|
16 / 7739
|
40
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
41
|
(HPO:0000614)
|
Abnormality of the nasolacrimal system |
|
|
|
|
1 / 7739
|
42
|
(HPO:0001357)
|
Plagiocephaly |
|
|
|
|
106 / 7739
|
43
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
44
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
45
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
46
|
(HPO:0002697)
|
Parietal foramina |
|
|
|
|
12 / 7739
|
47
|
(HPO:0003002)
|
Breast carcinoma |
|
|
|
|
23 / 7739
|
48
|
(HPO:0003189)
|
Long nose |
|
|
|
|
20 / 7739
|
49
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
50
|
(HPO:0004425)
|
Flat forehead |
|
|
|
|
6 / 7739
|
51
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
52
|
(HPO:0004443)
|
Lambdoidal craniosynostosis |
|
|
|
|
15 / 7739
|
53
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
54
|
(HPO:0009899)
|
Prominent crus of helix |
|
|
|
|
1 / 7739
|
55
|
(HPO:0009951)
|
Partial duplication of the distal phalanx of the 2nd finger |
|
|
|
|
1 / 7739
|
56
|
(HPO:0009968)
|
Partial duplication of the distal phalanx of the 3rd finger |
|
|
|
|
1 / 7739
|
57
|
(HPO:0010104)
|
Absent first metatarsal |
|
|
|
|
1 / 7739
|
58
|
(HPO:0011323)
|
Cleft of chin |
|
|
|
|
1 / 7739
|
59
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
60
|
(OMIM)
|
High, flat forehead |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Long and prominent ear crus |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Apical cartilage deformity |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
S-shaped blepharoptosis |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
Lacrimal duct abnormalities |
|
|
|
|
3 / 7739
|
65
|
(OMIM)
|
Thin, long, pointed nose |
|
|
|
|
2 / 7739
|
66
|
(OMIM)
|
Intracranial hypertension due to multisutural cranial fusion |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Craniosynostosis of coronal, lambdoid, and/or metopic sutures |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Small ilia |
|
|
|
|
5 / 7739
|
69
|
(OMIM)
|
Large ischia |
|
|
|
|
1 / 7739
|
70
|
(OMIM)
|
Mild syndactyly |
|
|
|
|
4 / 7739
|
71
|
(OMIM)
|
Bifid terminal phalanges digits 2 and 3 |
|
|
|
|
1 / 7739
|
72
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 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
|
(OMIM)
|
Increased risk of breast cancer in women |
|
|
|
|
1 / 7739
|
78
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
79
|
(HPO:0011039)
|
Abnormality of the helix |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
80
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
81
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
82
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
83
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
84
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
85
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
86
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
87
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
88
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
89
|
(HPO:0002678)
|
Skull asymmetry |
|
|
|
|
4 / 7739
|
90
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
91
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|