|
1
|
(HPO:0000028)
|
Cryptorchidism |
obligate [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
3 of 4 [HPO:skoehler]
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
obligate [HPO:skoehler]
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000369)
|
Low-set ears |
obligate [HPO:skoehler]
|
|
|
|
372 / 7739
|
|
5
|
(HPO:0000465)
|
Webbed neck |
obligate [HPO:skoehler]
|
|
|
|
81 / 7739
|
|
6
|
(HPO:0000545)
|
Myopia |
2 of 4 [HPO:skoehler]
|
|
|
|
286 / 7739
|
|
7
|
(HPO:0000750)
|
Delayed speech and language development |
1 of 4 [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0000962)
|
Hyperkeratosis |
obligate [HPO:skoehler]
|
|
|
|
216 / 7739
|
|
9
|
(HPO:0001256)
|
Intellectual disability, mild |
2 of 4 [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
10
|
(HPO:0001290)
|
Generalized hypotonia |
obligate [HPO:skoehler]
|
|
|
|
51 / 7739
|
|
11
|
(HPO:0001555)
|
Asymmetry of the thorax |
obligate [HPO:skoehler]
|
|
|
|
15 / 7739
|
|
12
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
3 of 4 [HPO:skoehler]
|
|
|
|
137 / 7739
|
|
13
|
(HPO:0001642)
|
Pulmonic stenosis |
3 of 4 [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
14
|
(HPO:0002212)
|
Curly hair |
obligate [HPO:skoehler]
|
|
|
|
21 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
obligate [HPO:skoehler]
|
|
|
|
1232 / 7739
|