Symptom Information: Sort according to HPO 

1
 (HPO:0000600) Abnormality of the pharynx Very frequent [Orphanet] 22 / 7739
2
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
3
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
4
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] hallmark [HPO] 859 / 7739
5
 (HPO:0001265) Hyporeflexia Very frequent [Orphanet] hallmark [HPO] 208 / 7739
6
 (HPO:0001284) Areflexia Very frequent [Orphanet] hallmark [HPO] 198 / 7739
7
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
8
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
9
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
10
 (HPO:0001251) Ataxia Frequent [Orphanet] typical [HPO] 413 / 7739
11
 (HPO:0002066) Gait ataxia Frequent [Orphanet] typical [HPO] 327 / 7739
12
 (HPO:0002311) Incoordination Frequent [Orphanet] 84 / 7739
13
 (HPO:0003355) Aminoaciduria Very frequent [Orphanet] 65 / 7739
14
 (HPO:0001269) Hemiparesis Frequent [Orphanet] typical [HPO] 51 / 7739
15
 (HPO:0002301) Hemiplegia Frequent [Orphanet] typical [HPO] 42 / 7739
16
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
17
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
18
 (HPO:0002121) Absence seizures Very frequent [Orphanet] 62 / 7739
19
 (HPO:0002133) Status epilepticus Very frequent [Orphanet] 59 / 7739
20
 (HPO:0011097) Epileptic spasms Very frequent [Orphanet] 45 / 7739
21
 (HPO:0011147) Typical absence seizures Very frequent [Orphanet] 33 / 7739
22
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
23
 (HPO:0002141) Gait imbalance Frequent [Orphanet] 55 / 7739
24
 (HPO:0002321) Vertigo Frequent [Orphanet] 58 / 7739
25
 (HPO:0001611) Nasal speech Very frequent [Orphanet] 48 / 7739
26
 (HPO:0008376) Nasal, dysarthic speech Very frequent [Orphanet] 8 / 7739
27
 (HPO:0100271) Hyponasal speech Very frequent [Orphanet] 7 / 7739
28
 (HPO:0002094) Dyspnea Very frequent [Orphanet] 132 / 7739
29
 (HPO:0002098) Respiratory distress Very frequent [Orphanet] 75 / 7739
30
 (HPO:0001249) Intellectual disability Very frequent [Orphanet] 1089 / 7739
31
 (HPO:0001263) Global developmental delay Very frequent [Orphanet] 853 / 7739
32
 (HPO:0001270) Motor delay Very frequent [Orphanet] 322 / 7739
33
 (HPO:0001328) Specific learning disability Very frequent [Orphanet] 114 / 7739