|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000076)
|
Vesicoureteral reflux |
variable [HPO:skoehler]
|
|
|
|
94 / 7739
|
|
3
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
4
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
5
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
6
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
7
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
8
|
(HPO:0000283)
|
Broad face |
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
|
10
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
11
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
12
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
13
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
16
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
17
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
18
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
19
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
20
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
21
|
(HPO:0003396)
|
Syringomyelia |
|
|
|
|
16 / 7739
|
|
22
|
(HPO:0007099)
|
Arnold-Chiari type I malformation |
|
|
|
|
18 / 7739
|
|
23
|
(OMIM)
|
Dysplastic helices |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
25
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
26
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
27
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
28
|
(OMIM)
|
Tethered spinal cord |
|
|
|
|
5 / 7739
|
|
29
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|