|
1
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
|
2
|
(HPO:0004470)
|
Atretic occipital cephalocele |
|
|
|
|
2 / 7739
|
|
3
|
(HPO:0004488)
|
Macrocephaly at birth |
|
|
|
|
2 / 7739
|
|
4
|
(OMIM)
|
Subscalp nodule (approximately 1.5 to 4 cm) |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Bony defect with cephalocele |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
MRI shows atretic occipital cephalocele with bony skull defect |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Normal neurologic development in most cases |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
9
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|