Symptom Information: Sort according to HPO 

1
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
2
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
3
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
4
 (HPO:0001131) Corneal dystrophy Occasional [Orphanet] 56 / 7739
5
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
6
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
7
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
8
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
9
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
10
 (HPO:0008064) Ichthyosis Frequent [Orphanet] 108 / 7739
11
 (HPO:0200037) Skin vesicle Frequent [Orphanet] 102 / 7739
12
 (HPO:0008069) Neoplasm of the skin Frequent [Orphanet] 84 / 7739
13
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
14
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
15
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
16
 (HPO:0001820) Leukonychia Very frequent [Orphanet] 18 / 7739
17
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
18
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
19
 (HPO:0011830) Abnormality of oral mucosa Very frequent [Orphanet] 47 / 7739
20
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
21
 (HPO:0001804) Hypoplastic fingernail Frequent [Orphanet] 62 / 7739
22
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
23
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
 (HPO:0001425) Heterogeneous 132 / 7739
26
 (HPO:0002745) Oral leukoplakia 17 / 7739
27
 (HPO:0007502) Follicular hyperkeratosis 12 / 7739