1
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
3
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
rare [HPO:skoehler]
|
|
|
|
372 / 7739
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
6
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
7
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
8
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
277 / 7739
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
rare [HPO:skoehler]
|
|
|
|
290 / 7739
|
10
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
11
|
(HPO:0001852)
|
Sandal gap |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
63 / 7739
|
12
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
13
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
14
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
15
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
16
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
381 / 7739
|
17
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
18
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
19
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
157 / 7739
|
20
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
21
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
305 / 7739
|
22
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
23
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
24
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
25
|
(HPO:0000995)
|
Melanocytic nevus |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
26
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
27
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
28
|
(HPO:0000414)
|
Bulbous nose |
rare [HPO:skoehler]
|
|
|
|
63 / 7739
|
29
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
30
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
31
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
32
|
(HPO:0000286)
|
Epicanthus |
rare [HPO:skoehler]
|
|
|
|
371 / 7739
|
33
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
34
|
(HPO:0002194)
|
Delayed gross motor development |
rare [HPO:skoehler]
|
|
|
|
37 / 7739
|
35
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
36
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
37
|
(HPO:0003422)
|
Vertebral segmentation defect |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
38
|
(HPO:0004404)
|
Abnormality of the nipple |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
39
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
rare [HPO:skoehler]
|
|
|
|
64 / 7739
|
40
|
(HPO:0100702)
|
Arachnoid cyst |
rare [HPO:skoehler]
|
|
|
|
15 / 7739
|
41
|
(OMIM)
|
Malformed ribs |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Prominent mandible |
|
|
|
|
5 / 7739
|
43
|
(OMIM)
|
Costovertebral dysplasia |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Malformed thoracic vertebrae |
|
|
|
|
1 / 7739
|
45
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
46
|
(HPO:0002373)
|
Febrile seizures |
|
|
|
|
37 / 7739
|
47
|
(OMIM)
|
Dilatation of the lateral ventricles (in one family) |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Dilatation of the 3rd ventricle (in one family) |
|
|
|
|
2 / 7739
|
49
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
50
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
51
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
52
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|