Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0001332) Dystonia Frequent [Orphanet] 197 / 7739
3
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
4
 (HPO:0000733) Stereotypy Very frequent [Orphanet] 58 / 7739
5
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
6
 (HPO:0000717) Autism Frequent [Orphanet] 108 / 7739
7
 (HPO:0000164) Abnormality of the teeth 291 / 7739
8
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
9
 (HPO:0001257) Spasticity 251 / 7739
10
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
11
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
12
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
13
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
14
 (HPO:0002353) EEG abnormality 188 / 7739
15
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
16
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
17
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
18
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
19
 (HPO:0004374) Hemiplegia/hemiparesis Occasional [Orphanet] 158 / 7739
20
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
21
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
22
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
23
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
24
 (HPO:0001773) Short foot 86 / 7739
25
 (HPO:0002019) Constipation 194 / 7739
26
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
27
 (HPO:0002078) Truncal ataxia 41 / 7739
28
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
29
 (HPO:0002187) Intellectual disability, profound 44 / 7739
30
 (HPO:0002333) Motor deterioration 7 / 7739
31
 (HPO:0003763) Bruxism 7 / 7739
32
 (HPO:0004322) Short stature 1232 / 7739
33
 (HPO:0004326) Cachexia 71 / 7739
34
 (HPO:0004879) Intermittent hyperventilation 2 / 7739
35
 (HPO:0005135) EKG: T-wave abnormalities 19 / 7739
36
 (HPO:0005184) Prolonged QTc interval 5 / 7739
37
 (HPO:0005484) Postnatal microcephaly 32 / 7739
38
 (HPO:0010521) Gait apraxia 1 / 7739
39
 (OMIM) Normal birth head circumference 2 / 7739
40
 (OMIM) T-wave abnormalities 1 / 7739
41
 (OMIM) Periodic apnea while awake 1 / 7739
42
 (MedDRA:10006322) Breath holding 1 / 7739
43
 (OMIM) Cold feet 2 / 7739
44
 (OMIM) Vasomotor disturbance 1 / 7739
45
 (OMIM) Normal development until 6-18 months 1 / 7739
46
 (OMIM) EEG abnormalities - slow waking background, intermittent rhythmical slowing (3-5Hz), epileptiform discharges 1 / 7739
47
 (OMIM) Reduction or loss of acquired skills (e.g., purposeful hand use, speech) 1 / 7739
48
 (OMIM) Hand stereotypies (e.g., hand wringing) 1 / 7739
49
 (HPO:0002360) Sleep disturbance Frequent [Orphanet] 113 / 7739
50
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
51
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
52
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
53
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
54
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
55
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
56
 (HPO:0002270) Abnormality of the autonomic nervous system Occasional [Orphanet] 22 / 7739
57
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
58
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
59
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
60
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
61
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
62
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
63
 (HPO:0002793) Abnormal pattern of respiration Occasional [Orphanet] 26 / 7739
64
 (HPO:0000729) Autistic behavior 27 / 7739
65
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
66
 (HPO:0002376) Developmental regression 74 / 7739