|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
3
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
4
|
(HPO:0000307)
|
Pointed chin |
|
|
|
|
45 / 7739
|
|
5
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
6
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
7
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
8
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
10
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
11
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
12
|
(HPO:0000608)
|
Macular degeneration |
|
|
|
|
36 / 7739
|
|
13
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
14
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
|
15
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
16
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
17
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
18
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
19
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
20
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
21
|
(HPO:0009748)
|
Large earlobe |
|
|
|
|
27 / 7739
|
|
22
|
(HPO:0011229)
|
Broad eyebrow |
|
|
|
|
9 / 7739
|
|
23
|
(OMIM)
|
Stargardt macular degeneration |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Bow-shaped upper lip |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Overcrowded teeth |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|