|
1
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
5
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
6
|
(HPO:0001873)
|
Thrombocytopenia |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
7
|
(HPO:0001935)
|
Microcytic anemia |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
8
|
(HPO:0002024)
|
Malabsorption |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
9
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
10
|
(HPO:0002514)
|
Cerebral calcification |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
11
|
(HPO:0004332)
|
Abnormality of lymphocytes |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
12
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
13
|
(HPO:0000124)
|
Renal tubular dysfunction |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
14
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
15
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
16
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|