|
1
|
(HPO:0001305)
|
Dandy-Walker malformation |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
2
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0002754)
|
Osteomyelitis |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
4
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
5
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0004535)
|
Anterior cervical hypertrichosis |
|
|
|
|
3 / 7739
|
|
7
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
|
8
|
(OMIM)
|
Peripheral sensory and motor neuropathy |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|