Symptom Information: Sort according to HPO 

1
(HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
2
(HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
3
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
(HPO:0003134) Abnormality of peripheral nerve conduction Frequent [Orphanet] 38 / 7739
5
(HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
6
(HPO:0003457) EMG abnormality Frequent [Orphanet] 78 / 7739
7
(HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
8
(HPO:0001251) Ataxia 413 / 7739
9
(HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
10
(HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
11
(HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
12
(HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
13
(HPO:0001249) Intellectual disability 1089 / 7739
14
(HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
15
(HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
16
(HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
17
(HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
18
(HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
19
(HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
20
(HPO:0000365) Hearing impairment 539 / 7739
21
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
22
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739