|
1
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
2
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
5
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
6
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
10
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
11
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
12
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
13
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
14
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
15
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
16
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
17
|
(HPO:0002470)
|
Nonprogressive cerebellar ataxia |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
19
|
(HPO:0004840)
|
Hypochromic microcytic anemia |
|
|
|
|
15 / 7739
|
|
20
|
(OMIM)
|
Ringed sideroblasts on bone marrow examination |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Increased free erythrocyte protoporphyrin |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Lack of excessive parenchymal iron storage |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
24
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
25
|
(HPO:0001924)
|
Sideroblastic anemia |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|