|
1
|
(HPO:0000540)
|
Hypermetropia |
rare [HPO:skoehler]
|
|
|
|
99 / 7739
|
|
2
|
(HPO:0008499)
|
High-grade hypermetropia |
|
|
|
|
14 / 7739
|
|
3
|
(HPO:0000565)
|
Esotropia |
rare [HPO:skoehler]
|
|
|
|
58 / 7739
|
|
4
|
(HPO:0000646)
|
Amblyopia |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0000709)
|
Psychosis |
rare [HPO:skoehler]
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0000736)
|
Short attention span |
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0010807)
|
Open bite |
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
12
|
(OMIM)
|
Anterior maxillary protrusion |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Mild cochlear hearing loss (1 patient) |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
15
|
(HPO:0000505)
|
Visual impairment |
rare [HPO:skoehler]
|
|
|
|
297 / 7739
|
|
16
|
(OMIM)
|
Vertical maxillary excess |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Prominent, crowded teeth |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Hyperlaxity |
|
|
|
|
1 / 7739
|
|
19
|
(MedDRA:10043209)
|
Temporal lobe epilepsy |
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|