|
1
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
2
|
(HPO:0002021)
|
Pyloric stenosis |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0002566)
|
Intestinal malrotation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0011875)
|
Abnormal platelet morphology |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
|
5
|
(HPO:0002250)
|
Abnormality of the large intestine |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
6
|
(HPO:0012639)
|
Abnormality of nervous system morphology |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
8
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
9
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
10
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0002253)
|
Colonic diverticula |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
|
|
26 / 7739
|
|
14
|
(HPO:0002574)
|
Episodic abdominal pain |
|
|
|
|
10 / 7739
|
|
15
|
(HPO:0005249)
|
Functional intestinal obstruction |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0010831)
|
Impaired proprioception |
|
|
|
|
7 / 7739
|