|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0000178)
|
Abnormality of lower lip |
|
|
|
|
1 / 7739
|
|
4
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
5
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
8
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
|
9
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
11
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
12
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
13
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
14
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
15
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
16
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
|
17
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
18
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
19
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
20
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
21
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
22
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
|
23
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
24
|
(HPO:0000736)
|
Short attention span |
|
|
|
|
16 / 7739
|
|
25
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
26
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
27
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
28
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
29
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
|
30
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
31
|
(HPO:0002373)
|
Febrile seizures |
|
|
|
|
37 / 7739
|
|
32
|
(HPO:0002463)
|
Language impairment |
|
|
|
|
15 / 7739
|
|
33
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
34
|
(HPO:0002591)
|
Polyphagia |
|
|
|
|
25 / 7739
|
|
35
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
36
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
37
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
38
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
39
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
40
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
41
|
(HPO:0100716)
|
Self-injurious behavior |
|
|
|
|
43 / 7739
|
|
42
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|