Symptom Information: Sort according to HPO 

1
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
2
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
3
 (HPO:0001324) Muscle weakness 859 / 7739
4
 (HPO:0002263) Exaggerated cupid's bow Very frequent [Orphanet] 15 / 7739
5
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
6
 (HPO:0000369) Low-set ears 372 / 7739
7
 (HPO:0000647) Sclerocornea Frequent [Orphanet] 25 / 7739
8
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
9
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
10
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
11
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
12
 (HPO:0000431) Wide nasal bridge 290 / 7739
13
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
14
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
15
 (HPO:0000347) Micrognathia 426 / 7739
16
 (HPO:0010489) Absent palmar crease Frequent [Orphanet] 5 / 7739
17
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
18
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
19
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
20
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
21
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
22
 (HPO:0007957) Corneal opacity 84 / 7739
23
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
24
 (HPO:0000964) Eczema Occasional [Orphanet] 81 / 7739
25
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
26
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
27
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
28
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
29
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
30
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
31
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
32
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
33
 (HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
34
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
35
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
36
 (HPO:0000366) Abnormality of the nose Occasional [Orphanet] 56 / 7739
37
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
38
 (HPO:0001249) Intellectual disability 1089 / 7739
39
 (HPO:0000411) Protruding ear 140 / 7739
40
 (HPO:0001159) Syndactyly 140 / 7739
41
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
42
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
43
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
44
 (HPO:0012385) Camptodactyly 113 / 7739
45
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
46
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
47
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
48
 (OMIM) Underdeveloped alae 1 / 7739
49
 (OMIM) Cupid bow of the upper lip 1 / 7739
50
 (OMIM) Broadening of the first rays 1 / 7739
51
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
52
 (HPO:0010547) Muscle flaccidity 466 / 7739
53
 (OMIM) Impaired balance 3 / 7739
54
 (OMIM) Underdeveloped corpus callosum (3 patients) 1 / 7739
55
 (OMIM) Unusual behavior (2 patients) 1 / 7739
56
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
57
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
58
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
59
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
60
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
61
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
62
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
63
 (HPO:0012745) Short palpebral fissure 47 / 7739