|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
3
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
4
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
5
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
6
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
7
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
9
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
10
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
13
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
14
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
|
15
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
16
|
(HPO:0001643)
|
Patent ductus arteriosus |
rare [HPO:skoehler]
|
|
|
|
228 / 7739
|
|
17
|
(HPO:0011648)
|
Patent ductus arteriosus after birth at term |
|
|
|
|
18 / 7739
|
|
18
|
(HPO:0001667)
|
Right ventricular hypertrophy |
rare [HPO:skoehler]
|
|
|
|
23 / 7739
|
|
19
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
20
|
(HPO:0006799)
|
Basal ganglia cysts |
|
|
|
|
6 / 7739
|
|
21
|
(OMIM)
|
Right ventricular dilation (1 patient) |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
23
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
24
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
25
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
26
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
27
|
(OMIM)
|
Lymphedema of the extremities |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Cheerful personality |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0001004)
|
Lymphedema |
|
|
|
|
62 / 7739
|