1
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
2
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
4
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
5
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
6
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
7
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
9
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
10
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
11
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
12
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
13
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
14
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
15
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
16
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
18
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
19
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
20
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
21
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
22
|
(HPO:0006145)
|
Central Y-shaped metacarpal |
|
|
|
|
2 / 7739
|
23
|
(OMIM)
|
Intraoral frenula |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Lobed tongue |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Lingual nodules |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Sublingual nodules |
|
|
|
|
1 / 7739
|
27
|
(HPO:0100260)
|
Mesoaxial polydactyly |
|
|
|
|
3 / 7739
|
28
|
(OMIM)
|
Polydactyly, preaxial or postaxial |
|
|
|
|
4 / 7739
|
29
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
30
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
31
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
32
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
33
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
34
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|