|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
3
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
4
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001631)
|
Atria septal defect |
rare [HPO:skoehler]
|
|
|
|
274 / 7739
|
|
10
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
11
|
(HPO:0001643)
|
Patent ductus arteriosus |
rare [HPO:skoehler]
|
|
|
|
228 / 7739
|
|
12
|
(HPO:0011648)
|
Patent ductus arteriosus after birth at term |
|
|
|
|
18 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
15
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
16
|
(OMIM)
|
Prominent incisors |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Small teeth apart from incisors (in some patients) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Aortic coarctation, mild (rare) |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
20
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
21
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
22
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
23
|
(OMIM)
|
Mental retardation, variable severity |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0000729)
|
Autistic behavior |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|