Symptom Information: Sort according to HPO 

1
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
2
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
3
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
4
 (HPO:0004452) Abnormality of the middle ear ossicles Very frequent [Orphanet] 26 / 7739
5
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
6
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
7
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
8
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
9
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
10
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
11
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
12
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
13
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
14
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
15
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
16
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
17
 (HPO:0000389) Chronic otitis media 64 / 7739
18
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
19
 (OMIM) Thin, pinched-nose facial appearance 1 / 7739
20
 (OMIM) Hips internally rotated 1 / 7739
21
 (HPO:0003083) Dislocated radial head 35 / 7739
22
 (OMIM) Dysplastic teeth 3 / 7739
23
 (OMIM) Delayed hair growth 2 / 7739
24
 (OMIM) Middle ear space atresia 1 / 7739
25
 (HPO:0000372) Abnormality of the auditory canal Very frequent [Orphanet] 49 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739