|
1
|
(HPO:0000733)
|
Stereotypy |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0000717)
|
Autism |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
6
|
(HPO:0000574)
|
Thick eyebrow |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
8
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
9
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
10
|
(HPO:0000490)
|
Deeply set eye |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
|
11
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
12
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
|
13
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
|
14
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
15
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
16
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
17
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
18
|
(HPO:0000194)
|
Open mouth |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
19
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
20
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
21
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
22
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
23
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
|
24
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
25
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
|
26
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
27
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
28
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
|
29
|
(HPO:0002540)
|
Inability to walk |
|
|
|
|
19 / 7739
|
|
30
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
31
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
32
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
33
|
(HPO:0200134)
|
Epileptic encephalopathy |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
34
|
(OMIM)
|
Dysmorphic ears |
|
|
|
|
4 / 7739
|
|
35
|
(OMIM)
|
Pronounced eyebrows |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Cupid bow |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
38
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
39
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
|
40
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
|
|
|
|
20 / 7739
|
|
41
|
(OMIM)
|
Stereotypic, repetitive movements |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
43
|
(HPO:0012639)
|
Abnormality of nervous system morphology |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
44
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
45
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
46
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
47
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|