|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0002592)
|
Gastric ulcer |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
4
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0000049)
|
Shawl scrotum |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
8
|
(HPO:0010804)
|
Tented upper lip vermilion |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0000322)
|
Short philtrum |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
10
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
13
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
14
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
15
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
16
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
|
17
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
18
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
19
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
|
20
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
21
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
22
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
23
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
24
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
25
|
(HPO:0002521)
|
Hypsarrhythmia |
rare [HPO:skoehler]
|
|
|
|
43 / 7739
|
|
26
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
27
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
28
|
(OMIM)
|
No sphincter control |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Delayed psychomotor development, severe |
|
|
|
|
14 / 7739
|
|
30
|
(OMIM)
|
Poor or absent speech acquisition |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
32
|
(OMIM)
|
Repetitive movements |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Stereotypical hand movements |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
35
|
(HPO:0003011)
|
Abnormality of the musculature |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
36
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
37
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|