Symptom Information: Sort according to HPO 

1
 (HPO:0000384) Preauricular skin tag Frequent [Orphanet] 62 / 7739
2
 (HPO:0001004) Lymphedema Frequent [Orphanet] 62 / 7739
3
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
4
 (HPO:0001284) Areflexia 198 / 7739
5
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
6
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
7
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
8
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
9
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
10
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
11
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
12
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
13
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
14
 (HPO:0000921) Missing ribs Frequent [Orphanet] 62 / 7739
15
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
16
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
17
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (HPO:0001308) Tongue fasciculations 18 / 7739
20
 (HPO:0001558) Decreased fetal movement 74 / 7739
21
 (HPO:0001629) Ventricular septal defect 316 / 7739
22
 (HPO:0001631) Atria septal defect 274 / 7739
23
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
24
 (HPO:0002878) Respiratory failure 57 / 7739
25
 (HPO:0003445) EMG: neuropathic changes 21 / 7739
26
 (HPO:0007126) Proximal amyotrophy 29 / 7739
27
 (HPO:0007269) Spinal muscular atrophy 24 / 7739
28
 (HPO:0008994) Proximal muscle weakness in lower limbs 11 / 7739