Symptom Information: Sort according to HPO 

1
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
2
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
3
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
4
 (HPO:0000262) Turricephaly Frequent [Orphanet] 38 / 7739
5
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
6
 (HPO:0000444) Convex nasal ridge Occasional [Orphanet] 87 / 7739
7
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
8
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
9
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
10
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
11
 (HPO:0000956) Acanthosis nigricans Occasional [Orphanet] 54 / 7739
12
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
13
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
14
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
15
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
16
 (HPO:0000648) Optic atrophy 238 / 7739
17
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
18
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
19
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
20
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
21
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
22
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
23
 (HPO:0000509) Conjunctivitis 47 / 7739
24
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
25
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
26
 (HPO:0011324) Multiple suture craniosynostosis 22 / 7739
27
 (HPO:0002308) Arnold-Chiari malformation Frequent [Orphanet] 42 / 7739
28
 (HPO:0001053) Hypopigmented skin patches Occasional [Orphanet] 80 / 7739
29
 (HPO:0002516) Increased intracranial pressure Frequent [Orphanet] 47 / 7739
30
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
31
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
32
 (HPO:0005107) Abnormality of the sacrum Occasional [Orphanet] 18 / 7739
33
 (HPO:0000303) Mandibular prognathia 179 / 7739
34
 (HPO:0000505) Visual impairment 297 / 7739
35
 (HPO:0000586) Shallow orbits 23 / 7739
36
 (HPO:0000678) Dental crowding 65 / 7739
37
 (HPO:0001249) Intellectual disability Occasional [HPO:skoehler] 1089 / 7739
38
 (HPO:0001250) Seizures 1245 / 7739
39
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
40
 (HPO:0003319) Abnormality of the cervical spine 6 / 7739
41
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
42
 (HPO:0004442) Sagittal craniosynostosis 16 / 7739
43
 (HPO:0004443) Lambdoidal craniosynostosis 15 / 7739
44
 (HPO:0010535) Sleep apnea 24 / 7739
45
 (HPO:0000520) Proptosis 192 / 7739
46
 (OMIM) Exposure conjunctivitis/keratitis 1 / 7739
47
 (OMIM) Parrot-like nose 1 / 7739
48
 (OMIM) Lateral palatal swellings 1 / 7739
49
 (OMIM) Calcification of stylohyoid ligament 1 / 7739
50
 (OMIM) Mental retardation, occasional 3 / 7739
51
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
52
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
53
 (HPO:0000372) Abnormality of the auditory canal Occasional [Orphanet] 49 / 7739
54
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
55
 (HPO:0004439) Craniofacial dysostosis 3 / 7739