|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
6
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
7
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
9
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
10
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
11
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
14
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
15
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
|
16
|
(HPO:0009928)
|
Thick nasal alae |
|
|
|
|
21 / 7739
|