|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
3
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
6
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
7
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
8
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
9
|
(HPO:0000641)
|
Dysmetric saccades |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
11
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
12
|
(HPO:0001265)
|
Hyporeflexia |
rare [HPO:skoehler]
|
|
|
|
208 / 7739
|
|
13
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0001761)
|
Pes cavus |
rare [HPO:skoehler]
|
|
|
|
225 / 7739
|
|
15
|
(HPO:0002080)
|
Intention tremor |
rare [HPO:skoehler]
|
|
|
|
44 / 7739
|
|
16
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
rare [HPO:skoehler]
|
|
|
|
73 / 7739
|
|
17
|
(HPO:0002936)
|
Distal sensory impairment |
rare [HPO:skoehler]
|
|
|
|
96 / 7739
|
|
18
|
(HPO:0003693)
|
Distal amyotrophy |
rare [HPO:skoehler]
|
|
|
|
118 / 7739
|
|
19
|
(HPO:0007772)
|
Impaired smooth pursuit |
|
|
|
|
21 / 7739
|