|
1
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
5
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
6
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
7
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
8
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
10
|
(OMIM)
|
Deep-seated eyes |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Epiphyseal changes in the proximal phalanges, mild |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|