|
1
|
(HPO:0011331)
|
Hemifacial atrophy |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
2
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
|
5
|
(HPO:0011800)
|
Midface retrusion |
Occasional [Orphanet]
|
|
|
|
221 / 7739
|
|
6
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
9
|
(HPO:0000496)
|
Abnormality of eye movement |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
10
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
11
|
(HPO:0000294)
|
Low anterior hairline |
rare [HPO:skoehler]
|
|
|
|
52 / 7739
|
|
12
|
(HPO:0000508)
|
Ptosis |
rare [HPO:skoehler]
|
|
|
|
459 / 7739
|
|
13
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
|
|
42 / 7739
|
|
14
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
15
|
(HPO:0000717)
|
Autism |
rare [HPO:skoehler]
|
|
|
|
108 / 7739
|
|
16
|
(HPO:0000954)
|
Single transverse palmar crease |
rare [HPO:skoehler]
|
|
|
|
162 / 7739
|
|
17
|
(HPO:0001123)
|
Visual field defect |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0001822)
|
Hallux valgus |
rare [HPO:skoehler]
|
|
|
|
70 / 7739
|
|
19
|
(OMIM)
|
Minor ear anomalies (in some patients) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Malocclusion, class I/II (in some patients) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Coronal synostosis, unilateral or bilateral |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Sagittal synostosis |
|
|
|
|
2 / 7739
|
|
23
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
24
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
25
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
26
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
27
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
28
|
(OMIM)
|
Syndactyly between adjacent toes (in some patients) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Asperger syndrome (rare) |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Prominent ventricles (in some patients) |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Prominent CSF spaces (in some patients) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Agenesis of corpus callosum, partial or complete (rare) |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
35
|
(HPO:0001156)
|
Brachydactyly syndrome |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
|
36
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|