Symptom Information: Sort according to HPO 

1
(HPO:0000204) Cleft upper lip rare [HPO:skoehler] 193 / 7739
2
(HPO:0000316) Hypertelorism Occasional [HPO:probinson] 644 / 7739
3
(HPO:0000319) Smooth philtrum 72 / 7739
4
(HPO:0000322) Short philtrum 130 / 7739
5
(HPO:0000431) Wide nasal bridge Occasional [HPO:probinson] 290 / 7739
6
(HPO:0000470) Short neck 345 / 7739
7
(HPO:0000601) Hypotelorism rare [HPO:skoehler] 83 / 7739
8
(HPO:0000664) Synophrys Occasional [HPO:probinson] 112 / 7739
9
(HPO:0000752) Hyperactivity 140 / 7739
10
(HPO:0001249) Intellectual disability 1089 / 7739
11
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
12
(HPO:0001956) Truncal obesity Occasional [HPO:skoehler] 39 / 7739
13
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
14
(HPO:0002334) Abnormality of the cerebellar vermis 137 / 7739
15
(HPO:0002714) Downturned corners of mouth Occasional [HPO:probinson] 98 / 7739
16
(HPO:0005484) Postnatal microcephaly 32 / 7739
17
(OMIM) Short, smooth philtrum 1 / 7739
18
(HPO:0100335) Non-midline cleft lip 12 / 7739
19
(OMIM) Prominent central incisors 1 / 7739
20
(OMIM) Long, thin fingers 2 / 7739
21
(OMIM) Mental retardation, moderate to severe 20 / 7739
22
(OMIM) Language development limited to a few words 1 / 7739
23
(HPO:0001327) Photomyoclonic seizures 125 / 7739
24
(OMIM) Delayed walking 13 / 7739
25
(OMIM) Decreased volume of the cerebral white matter 1 / 7739
26
(HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
27
(OMIM) Hypoplasia of the inferior cerebellar vermis 1 / 7739
28
(OMIM) Happy disposition 1 / 7739
29
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
(HPO:0003593) Infantile onset 249 / 7739