Symptom Information: Sort according to HPO 

1
 (HPO:0001510) Growth delay 295 / 7739
2
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
3
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
4
 (HPO:0000625) Cleft eyelid Occasional [Orphanet] 31 / 7739
5
 (HPO:0001999) Abnormal facial shape Occasional [Orphanet] 169 / 7739
6
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
7
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
8
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
9
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
10
 (HPO:0001355) Megalencephaly 39 / 7739
11
 (HPO:0004482) Relative macrocephaly 44 / 7739
12
 (HPO:0008750) Laryngeal atresia Frequent [Orphanet] 3 / 7739
13
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
14
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
15
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
16
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
17
 (HPO:0002251) Aganglionic megacolon Frequent [Orphanet] 78 / 7739
18
 (HPO:0001140) Epibulbar dermoid Very frequent [Orphanet] 11 / 7739
19
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
20
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
21
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
22
 (HPO:0000953) Hyperpigmentation of the skin Very frequent [Orphanet] 75 / 7739
23
 (HPO:0000598) Abnormality of the ear Frequent [Orphanet] 98 / 7739
24
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
25
 (HPO:0000242) Parietal bossing rare [HPO:skoehler] 11 / 7739
26
 (HPO:0000431) Wide nasal bridge rare [HPO:skoehler] 290 / 7739
27
 (HPO:0000483) Astigmatism rare [HPO:skoehler] 67 / 7739
28
 (HPO:0000752) Hyperactivity 140 / 7739
29
 (HPO:0001004) Lymphedema 62 / 7739
30
 (HPO:0001057) Aplasia cutis congenita 7 / 7739
31
 (HPO:0001250) Seizures 1245 / 7739
32
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
33
 (HPO:0001680) Coarctation of aorta 57 / 7739
34
 (HPO:0002326) Transient ischemic attack 13 / 7739
35
 (HPO:0002836) Bladder exstrophy 8 / 7739
36
 (HPO:0005280) Depressed nasal bridge rare [HPO:skoehler] 381 / 7739
37
 (HPO:0007759) Opacification of the corneal stroma rare [HPO:skoehler] 77 / 7739
38
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
39
 (HPO:0010816) Epidermal nevus 2 / 7739
40
 (HPO:0100559) Lower limb asymmetry 30 / 7739
41
 (HPO:0100702) Arachnoid cyst rare [HPO:skoehler] 15 / 7739
42
 (OMIM) Frontal parietal bossing (in some patients) 1 / 7739
43
 (OMIM) Dermolipoma 1 / 7739
44
 (MedDRA:10002537) Anisometropia 1 / 7739
45
 (MedDRA:10028047) Moyamoya disease 4 / 7739
46
 (OMIM) Rhabdosarcoma, embryonal 1 / 7739
47
 (OMIM) Moderate learning difficulties 1 / 7739
48
 (OMIM) Hyperactive behavior, mild 1 / 7739
49
 (HPO:0012639) Abnormality of nervous system morphology Very frequent [Orphanet] 25 / 7739
50
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
51
 (HPO:0001626) Abnormality of the cardiovascular system Frequent [Orphanet] 73 / 7739
52
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
53
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
54
 (HPO:0003812) Phenotypic variability 129 / 7739
55
 (HPO:0012803) Anisometropia 1 / 7739