1
|
(HPO:0001760)
|
Abnormality of the foot |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
2
|
(HPO:0000625)
|
Cleft eyelid |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
3
|
(HPO:0000647)
|
Sclerocornea |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
4
|
(HPO:0001155)
|
Abnormality of the hand |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
5
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
6
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
7
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
8
|
(HPO:0002230)
|
Generalized hirsutism |
|
|
|
|
32 / 7739
|
9
|
(HPO:0004554)
|
Generalized hypertrichosis |
|
|
|
|
30 / 7739
|
10
|
(HPO:0000496)
|
Abnormality of eye movement |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
11
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
12
|
(HPO:0000294)
|
Low anterior hairline |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
13
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
14
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
15
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
16
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
17
|
(HPO:0000929)
|
Abnormality of the skull |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
18
|
(HPO:0002208)
|
Coarse hair |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
19
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
20
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
|
|
|
|
132 / 7739
|
21
|
(HPO:0000483)
|
Astigmatism |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
22
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
23
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
24
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
25
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
26
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
|
|
22 / 7739
|
27
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
28
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
29
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
30
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
31
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
32
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
33
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
34
|
(HPO:0000636)
|
Upper eyelid coloboma |
|
|
|
|
7 / 7739
|
35
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
36
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
37
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
38
|
(HPO:0001857)
|
Short distal phalanx of toe |
|
|
|
|
6 / 7739
|
39
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
40
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
41
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
42
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
|
|
|
|
36 / 7739
|
43
|
(HPO:0009924)
|
Aplasia/Hypoplasia involving the nose |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
44
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
45
|
(OMIM)
|
Stocky body build |
|
|
|
|
1 / 7739
|
46
|
(HPO:0006482)
|
Abnormality of dental morphology |
|
|
|
|
81 / 7739
|
47
|
(OMIM)
|
Clival hypoplasia |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Elevation of the lessor sphenoidal wings |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Hypoplastic nasal bones |
|
|
|
|
1 / 7739
|
50
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
51
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
52
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
53
|
(HPO:0009115)
|
Aplasia/hypoplasia involving the skeleton |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
54
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
55
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
56
|
(HPO:0000456)
|
Bifid nasal tip |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
57
|
(HPO:0000664)
|
Synophrys |
rare [HPO:skoehler]
|
|
|
|
112 / 7739
|
58
|
(HPO:0001792)
|
Small nail |
rare [HPO:skoehler]
|
|
|
|
55 / 7739
|
59
|
(HPO:0001798)
|
Anonychia |
rare [HPO:skoehler]
|
|
|
|
28 / 7739
|
60
|
(HPO:0002162)
|
Low posterior hairline |
rare [HPO:skoehler]
|
|
|
|
88 / 7739
|
61
|
(HPO:0012725)
|
Cutaneous syndactyly |
rare [HPO:skoehler]
|
|
|
|
2 / 7739
|
62
|
(HPO:0045025)
|
Narrow palpebral fissure |
|
|
|
|
8 / 7739
|