|
1
|
(HPO:0010301)
|
Spinal dysraphism |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
2
|
(HPO:0010628)
|
Facial palsy |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
3
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
4
|
(HPO:0003010)
|
Prolonged bleeding time |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
5
|
(HPO:0001362)
|
Calvarial skull defect |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0004471)
|
Aplasia cutis congenita over the scalp vertex |
|
|
|
|
2 / 7739
|
|
7
|
(OMIM)
|
Decreased ossification underlying the skin defect (in 20 to 30% of patients) |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Circumscribed transparent membrane on the scalp vertex may be ulcerated (other areas of the body are rarely involved) |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0009115)
|
Aplasia/hypoplasia involving the skeleton |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|