|
1
|
(HPO:0002566)
|
Intestinal malrotation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0100578)
|
Lipoatrophy |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
5
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
6
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
7
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
8
|
(HPO:0002244)
|
Abnormality of the small intestine |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0000126)
|
Hydronephrosis |
rare [HPO:skoehler]
|
|
|
|
119 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
12
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0001264)
|
Spastic diplegia |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
|
16
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
17
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
18
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
19
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
20
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
21
|
(HPO:0002021)
|
Pyloric stenosis |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|
|
22
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
23
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
24
|
(HPO:0004389)
|
Intestinal pseudo-obstruction |
|
|
|
|
7 / 7739
|
|
25
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
26
|
(HPO:0011877)
|
Increased mean platelet volume |
|
|
|
|
9 / 7739
|