|
1
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0000054)
|
Micropenis |
rare [HPO:skoehler]
|
|
|
|
257 / 7739
|
|
4
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
5
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
6
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
8
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0011755)
|
Ectopic posterior pituitary |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
Microphthalmia, unilateral or bilateral |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Anophthalmia, clinical, unilateral or bilateral |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Optic nerve hypoplasia or agenesis |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
18
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
19
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
20
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
21
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
22
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
23
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
|
|
|
|
180 / 7739
|
|
24
|
(MedDRA:10051944)
|
Pituitary hypoplasia |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Pituitary hormone deficiencies |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|