|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
3
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
4
|
(HPO:0000298)
|
Mask-like facies |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0000526)
|
Aniridia |
|
|
|
|
12 / 7739
|
|
6
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
8
|
(HPO:0000598)
|
Abnormality of the ear |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
11
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
12
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
13
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|