|
1
|
(HPO:0000154)
|
Wide mouth |
3/3 [HPO:probinson]
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0000179)
|
Thick lower lip vermilion |
3/3 [HPO:probinson]
|
|
|
|
72 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
3/3 [HPO:probinson]
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000527)
|
Long eyelashes |
3/3 [HPO:probinson]
|
|
|
|
46 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
3/3 [HPO:probinson]
|
|
|
|
20 / 7739
|
|
7
|
(HPO:0002209)
|
Sparse scalp hair |
3/3 [HPO:probinson]
|
|
|
|
59 / 7739
|
|
8
|
(HPO:0002719)
|
Recurrent infections |
3/3 [HPO:probinson]
|
|
|
|
107 / 7739
|
|
9
|
(HPO:0011968)
|
Feeding difficulties |
3/3 [HPO:probinson]
|
|
|
|
240 / 7739
|
|
10
|
(HPO:0200104)
|
Absent fifth fingernail |
3/3 [HPO:probinson]
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0200105)
|
Absent fifth toenail |
3/3 [HPO:probinson]
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|