|
1
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
2
|
(HPO:0000625)
|
Cleft eyelid |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
obligate [HPO:skoehler]
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
5
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
6
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
7
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
8
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
9
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
10
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
11
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
12
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
13
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
14
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
obligate [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
17
|
(HPO:0001088)
|
Brushfield spots |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
18
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
19
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
20
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
21
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
22
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
23
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
24
|
(HPO:0000204)
|
Cleft upper lip |
Very frequent [Orphanet]
|
|
|
|
193 / 7739
|
|
25
|
(HPO:0000159)
|
Abnormality of the lip |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
26
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
27
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
28
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
29
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
30
|
(HPO:0000303)
|
Mandibular prognathia |
rare [HPO:skoehler]
|
|
|
|
179 / 7739
|
|
31
|
(HPO:0000349)
|
Widow's peak |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|
|
32
|
(HPO:0000410)
|
Mixed hearing impairment |
rare [HPO:skoehler]
|
|
|
|
22 / 7739
|
|
33
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
34
|
(HPO:0000527)
|
Long eyelashes |
rare [HPO:skoehler]
|
|
|
|
46 / 7739
|
|
35
|
(HPO:0000568)
|
Microphthalmia |
rare [HPO:skoehler]
|
|
|
|
183 / 7739
|
|
36
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
37
|
(HPO:0000677)
|
Oligodontia |
rare [HPO:skoehler]
|
|
|
|
41 / 7739
|
|
38
|
(HPO:0000767)
|
Pectus excavatum |
rare [HPO:skoehler]
|
|
|
|
244 / 7739
|
|
39
|
(HPO:0001089)
|
Iris atrophy |
rare [HPO:skoehler]
|
|
|
|
8 / 7739
|
|
40
|
(HPO:0001249)
|
Intellectual disability |
obligate [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
41
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
42
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
43
|
(HPO:0004523)
|
Long eyebrows |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|
|
44
|
(HPO:0007835)
|
S-shaped palpebral fissures |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|
|
45
|
(HPO:0008807)
|
Acetabular dysplasia |
|
|
|
|
6 / 7739
|
|
46
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
47
|
(HPO:0011304)
|
Broad thumb |
rare [HPO:skoehler]
|
|
|
|
39 / 7739
|