Symptom Information: Sort according to HPO 

1
(HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
2
(HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
3
(HPO:0001252) Muscular hypotonia Occasional [Orphanet] 9/18 [HPO] 19372089 IBIS 990 / 7739
4
(HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
5
(HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
6
(HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 4/19 [HPO] 19372089 IBIS 288 / 7739
7
(HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
8
(HPO:0001250) Seizures Occasional [Orphanet] 2/18 [HPO] 19372089 IBIS 1245 / 7739
9
(HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
10
(HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
11
(HPO:0000486) Strabismus Occasional [Orphanet] 3/19 [HPO] 19372089 IBIS 576 / 7739
12
(HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
13
(HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
14
(HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
15
(HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
16
(HPO:0001328) Specific learning disability 7/25 [HPO] 19372089 IBIS 114 / 7739
17
(HPO:0000316) Hypertelorism 3/19 [HPO] 19372089 IBIS 644 / 7739
18
(HPO:0000664) Synophrys 3/19 [HPO] 19372089 IBIS 112 / 7739
19
(HPO:0000708) Behavioral abnormality 10/19 [HPO] Occasional [Orphanet] 19372089 IBIS 212 / 7739
20
(HPO:0001156) Brachydactyly syndrome 3/19 [HPO] 19372089 IBIS 180 / 7739
21
(HPO:0001256) Intellectual disability, mild 5/17 [HPO] 19372089 IBIS 141 / 7739
22
(HPO:0001999) Abnormal facial shape typical [HPO] 19372089 IBIS 169 / 7739
23
(HPO:0002342) Intellectual disability, moderate 6/17 [HPO] 19372089 IBIS 37 / 7739
24
(HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
25
(HPO:0008050) Abnormality of the palpebral fissures 7/19 [HPO] 19372089 IBIS 3 / 7739
26
(HPO:0010864) Intellectual disability, severe 3/18 [HPO] 19372089 IBIS 120 / 7739
27
(HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
28
(HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
29
(HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
30
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
31
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
32
(HPO:0000377) Abnormality of the pinna 6/19 [HPO] 111 / 7739
33
(HPO:0003812) Phenotypic variability 129 / 7739
34
(HPO:0003829) Incomplete penetrance 50% [HPO] 85 / 7739
35
(HPO:0030680) Abnormality of cardiovascular system morphology 3/19 [HPO] 355 / 7739