|
1
|
(HPO:0000524)
|
Conjunctival telangiectasia |
|
|
|
|
17 / 7739
|
|
2
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
3
|
(HPO:0000777)
|
Abnormality of the thymus |
|
|
|
|
9 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
|
7
|
(HPO:0001952)
|
Abnormal glucose tolerance |
|
|
|
|
9 / 7739
|
|
8
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
|
9
|
(HPO:0003220)
|
Abnormality of chromosome stability |
|
|
|
|
98 / 7739
|
|
10
|
(HPO:0006254)
|
Elevated alpha-fetoprotein |
|
|
|
|
10 / 7739
|
|
11
|
(HPO:0007181)
|
Interosseus muscle atrophy |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0007380)
|
Facial telangiectasia |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0007440)
|
Generalized hyperpigmentation |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0009067)
|
Progressive spinal muscular atrophy |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
16
|
(OMIM)
|
Flexion-extension finger contractures |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Hypoplasia |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Anergy to skin testing |
|
|
|
|
1 / 7739
|
|
19
|
(MedDRA:10050389)
|
Cerebral ataxia |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Phytohemagglutinin response impaired |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Hyperpigmentation, marked generalized |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|