|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
3
|
(HPO:0000484)
|
Hyperopic astigmatism |
|
|
|
|
8 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
6
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
7
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
8
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
10
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0001047)
|
Atopic dermatitis |
|
|
|
|
20 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
|
14
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
15
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
|
16
|
(HPO:0011349)
|
Abducens palsy |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0001520)
|
Large for gestational age |
|
|
|
|
34 / 7739
|
|
18
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|