|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0000646)
|
Amblyopia |
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0001239)
|
Wrist flexion contracture |
rare [HPO:skoehler]
|
|
|
|
13 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001274)
|
Agenesis of corpus callosum |
rare [HPO:skoehler]
|
|
|
|
142 / 7739
|
|
7
|
(HPO:0001328)
|
Specific learning disability |
rare [HPO:skoehler]
|
|
|
|
114 / 7739
|
|
8
|
(HPO:0001477)
|
Compensatory chin elevation |
|
|
|
|
5 / 7739
|
|
9
|
(HPO:0001491)
|
Congenital fibrosis of extraocular muscles |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
rare [HPO:skoehler]
|
|
|
|
62 / 7739
|
|
11
|
(HPO:0007831)
|
Nonprogressive restrictive external ophthalmoplegia |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0010628)
|
Facial palsy |
rare [HPO:skoehler]
|
|
|
|
146 / 7739
|
|
13
|
(HPO:0012241)
|
Levator palpebrae superioris atrophy |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0100490)
|
Camptodactyly of finger |
rare [HPO:skoehler]
|
|
|
|
212 / 7739
|
|
15
|
(OMIM)
|
Ptosis, variable (bilateral, unilateral, or absent) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Ophthalmoplegia, nonprogressive restrictive, bilateral or unilateral |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Eyes fixed in hypotrophic eye position (severe cases) |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
19
|
(OMIM)
|
Inability to raise one or both eyes above midline |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Refractive error |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Hypoplasia of the ocular nerve |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0012242)
|
Superior rectus atrophy |
|
|
|
|
3 / 7739
|
|
23
|
(OMIM)
|
Rectus medial atrophy |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Dysgenesis or agenesis of the corpus callosum (in some) |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Dysgenesis of the anterior commissure (in some) |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Dysmorphic basal ganglia |
|
|
|
|
4 / 7739
|
|
27
|
(OMIM)
|
Hypoplastic internal capsule (in some) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Axonal peripheral sensorimotor neuropathy |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
30
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|