|
1
|
(HPO:0011305)
|
Partial absence of toe |
Very frequent [Orphanet]
|
|
6660641
|
IBIS
|
18 / 7739
|
|
2
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Very frequent [Orphanet]
|
|
6660641
|
IBIS
|
46 / 7739
|
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
6660641
|
IBIS
|
125 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
6660641
|
IBIS
|
832 / 7739
|
|
5
|
(HPO:0001107)
|
Ocular albinism |
Very frequent [Orphanet]
|
|
6660641
|
IBIS
|
40 / 7739
|
|
6
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
6660641
|
IBIS
|
275 / 7739
|
|
7
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
6660641
|
IBIS
|
394 / 7739
|
|
8
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
6660641
|
IBIS
|
949 / 7739
|
|
9
|
(HPO:0001022)
|
Albinism |
|
|
6660641
|
IBIS
|
43 / 7739
|