|
1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0000161)
|
Median cleft lip |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
6
|
(HPO:0001155)
|
Abnormality of the hand |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0001238)
|
Slender finger |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
8
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
9
|
(HPO:0001032)
|
Absent distal interphalangeal creases |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
11
|
(HPO:0007395)
|
Postnatal-onset ichthyosiform erythroderma |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Midline groove in lower lip |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Gap between second and third fingers |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|