|
1
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0008064)
|
Ichthyosis |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
|
3
|
(HPO:0001596)
|
Alopecia |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
4
|
(HPO:0001218)
|
Autoamputation |
|
|
|
|
10 / 7739
|
|
5
|
(HPO:0100716)
|
Self-injurious behavior |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
6
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
7
|
(HPO:0002763)
|
Abnormal cartilage morphology |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
8
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
9
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
|
10
|
(HPO:0001805)
|
Thick nail |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0001597)
|
Abnormality of the nail |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
|
12
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
|
13
|
(HPO:0007460)
|
Autoamputation of digits |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0007465)
|
Honeycomb palmoplantar keratoderma |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0009775)
|
Amniotic constriction ring |
|
|
|
|
21 / 7739
|
|
16
|
(OMIM)
|
Hearing loss, mild to moderate |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Circular constrictions of digits (pseudoainhum) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Papular keratoderma, mild |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Honeycomb keratoderma |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Starfish-like acral keratoses (knuckles) |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
22
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
23
|
(HPO:0030350)
|
Erythematous papule |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
24
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|