|
1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
6
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
7
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
8
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
14
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
|
|
|
|
41 / 7739
|
|
15
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
16
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
17
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|