|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
|
|
26 / 7739
|
|
6
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
7
|
(HPO:0002301)
|
Hemiplegia |
|
|
|
|
42 / 7739
|
|
8
|
(HPO:0004798)
|
Recurrent infection of the gastrointestinal tract |
|
|
|
|
9 / 7739
|
|
9
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
|
10
|
(HPO:0007599)
|
Generalized reticulate brown pigmentation |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
12
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
13
|
(HPO:0012227)
|
Urethral stricture |
|
|
|
|
5 / 7739
|
|
14
|
(OMIM)
|
Failure to thrive in male infants |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Brown skin pigmentation in females like incontinentia pigmenti |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Generalized reticulate brown pigmentation in males |
|
|
|
|
1 / 7739
|
|
18
|
(MedDRA:10017888)
|
[DEL]Gastroenteritis |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Bloody stools |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Near-blindness |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
22
|
(HPO:0011034)
|
Amyloidosis |
|
|
|
|
12 / 7739
|