|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0000717)
|
Autism |
Frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
3
|
(HPO:0000298)
|
Mask-like facies |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
|
4
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
5
|
(HPO:0000657)
|
Oculomotor apraxia |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
frequent [HPO]
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
11
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
12
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
13
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
14
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
15
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
16
|
(HPO:0000721)
|
Lack of spontaneous play |
|
|
|
|
11 / 7739
|
|
17
|
(HPO:0000723)
|
Restrictive behavior |
|
|
|
|
11 / 7739
|
|
18
|
(HPO:0000728)
|
Impaired ability to form peer relationships |
|
|
|
|
8 / 7739
|
|
19
|
(HPO:0000732)
|
Inflexible adherence to routines or rituals |
|
|
|
|
11 / 7739
|
|
20
|
(HPO:0000733)
|
Stereotypy |
|
|
|
|
58 / 7739
|
|
21
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
22
|
(HPO:0000758)
|
Impaired use of nonverbal behaviors |
|
|
|
|
11 / 7739
|
|
23
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
24
|
(HPO:0002353)
|
EEG abnormality |
frequent [HPO]
|
|
|
|
188 / 7739
|
|
25
|
(HPO:0003144)
|
Increased serum serotonin |
frequent [HPO]
|
|
|
|
7 / 7739
|
|
26
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
27
|
(OMIM)
|
Mental retardation in 75% |
|
|
|
|
7 / 7739
|
|
28
|
(OMIM)
|
Seizures in 15-30% |
|
|
|
|
7 / 7739
|
|
29
|
(OMIM)
|
EEG abnormalities in 20-50% |
|
|
|
|
6 / 7739
|
|
30
|
(HPO:0000735)
|
Impaired social interactions |
|
|
|
|
20 / 7739
|
|
31
|
(OMIM)
|
Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures |
|
|
|
|
11 / 7739
|
|
32
|
(OMIM)
|
Impaired language development |
|
|
|
|
6 / 7739
|
|
33
|
(OMIM)
|
Stereotyped, repetitive behavior |
|
|
|
|
11 / 7739
|
|
34
|
(OMIM)
|
Increased serum serotonin in 25% |
|
|
|
|
7 / 7739
|
|
35
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
36
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
37
|
(HPO:0001426)
|
Multifactorial inheritance |
|
|
|
|
37 / 7739
|
|
38
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
39
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|