Symptom Information: Sort according to HPO 

1
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
2
 (HPO:0011073) Abnormality of dental color Very frequent [Orphanet] 24 / 7739
3
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
4
 (HPO:0000726) Dementia 131 / 7739
5
 (HPO:0002376) Developmental regression rare [HPO:skoehler] 74 / 7739
6
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
7
 (HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
8
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
9
 (HPO:0001257) Spasticity 251 / 7739
10
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
11
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
12
 (HPO:0000705) Amelogenesis imperfecta 25 / 7739
13
 (HPO:0001251) Ataxia 413 / 7739
14
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
15
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
16
 (HPO:0002059) Cerebral atrophy 171 / 7739
17
 (HPO:0002119) Ventriculomegaly 253 / 7739
18
 (HPO:0002521) Hypsarrhythmia 43 / 7739
19
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
20
 (HPO:0010864) Intellectual disability, severe 120 / 7739
21
 (HPO:0200134) Epileptic encephalopathy 42 / 7739
22
 (OMIM) Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 1 / 7739
23
 (OMIM) EEG shows multifocal discharges 1 / 7739
24
 (OMIM) Lack of speech development 20 / 7739
25
 (OMIM) Poor communication 2 / 7739
26
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (HPO:0003828) Variable expressivity 130 / 7739