Symptom Information: Sort according to HPO 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0006959) Proximal spinal muscular atrophy 1 / 7739
4
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739