|
1
|
(HPO:0000176)
|
Submucous cleft hard palate |
|
|
|
|
19 / 7739
|
|
2
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
5
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
6
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
7
|
(HPO:0000835)
|
Adrenal hypoplasia |
|
|
|
|
23 / 7739
|
|
8
|
(HPO:0000873)
|
Diabetes insipidus |
|
|
|
|
34 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
14
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
15
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
16
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
|
17
|
(HPO:0002139)
|
Arrhinencephaly |
|
|
|
|
13 / 7739
|
|
18
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
20
|
(HPO:0005273)
|
Absent nasal septal cartilage |
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0006315)
|
Single median maxillary incisor |
|
|
|
|
13 / 7739
|
|
22
|
(HPO:0008501)
|
Median cleft lip and palate |
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0009914)
|
Cyclopia |
|
|
|
|
11 / 7739
|
|
24
|
(HPO:0009927)
|
Aplasia of the nose |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0010626)
|
Anterior pituitary agenesis |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
27
|
(OMIM)
|
Premaxillary agenesis |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
29
|
(OMIM)
|
Varying degrees of doubling of intrinsic ocular structures |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Blind-ending proboscis |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Agenesis of nasal bones |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Central incisor |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Atelencephaly |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
35
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
36
|
(OMIM)
|
Alobar HPE shows absence of interhemispheric cleavage and single ventricle |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Semilobar HPE shows posterior interhemispheric fissure with rudimentary cerebral hemispheres and single ventricle |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Lobar HPE shows clear interhemispheric fissure and 2 lateral ventricles |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Endocrine dysgenesis |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Pituitary agenesis |
|
|
|
|
3 / 7739
|
|
41
|
(OMIM)
|
Hypophyseal agenesis |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Hypothalamic dysfunction |
|
|
|
|
4 / 7739
|
|
43
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
44
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
45
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
46
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
47
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|