Symptom Information: Sort according to HPO 

1
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
2
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
3
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
4
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
5
 (HPO:0002267) Exaggerated startle response 42 / 7739
6
 (HPO:0001373) Joint dislocation Occasional [Orphanet] 59 / 7739
7
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
8
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
9
 (HPO:0002360) Sleep disturbance Frequent [Orphanet] 113 / 7739
10
 (HPO:0004305) Involuntary movements Very frequent [Orphanet] 50 / 7739
11
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
12
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
13
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
14
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
15
 (HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
16
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
17
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (HPO:0000023) Inguinal hernia 181 / 7739
21
 (HPO:0001336) Myoclonus 115 / 7739
22
 (HPO:0002104) Apnea 106 / 7739
23
 (HPO:0002359) Frequent falls 24 / 7739
24
 (HPO:0002375) Hypokinesia 25 / 7739
25
 (HPO:0002827) Hip dislocation 94 / 7739
26
 (HPO:0002835) Aspiration 11 / 7739
27
 (HPO:0003593) Infantile onset 249 / 7739