|
1
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0005048)
|
Synostosis of carpal bones |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
5
|
(HPO:0002516)
|
Increased intracranial pressure |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
6
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
9
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
10
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
11
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
12
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
13
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
14
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
15
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
16
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
17
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
18
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
19
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
20
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
21
|
(HPO:0001241)
|
Capitate-hamate fusion |
|
|
|
|
6 / 7739
|
|
22
|
(HPO:0003795)
|
Short middle phalanx of toe |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
|
24
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
25
|
(HPO:0006193)
|
Thimble-shaped middle phalanges of hand |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
27
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
|
28
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
29
|
(OMIM)
|
Normal height |
|
|
|
|
8 / 7739
|
|
30
|
(OMIM)
|
Bulging of temporal fossae |
|
|
|
|
1 / 7739
|
|
31
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
32
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
33
|
(OMIM)
|
Broad, thimble-like middle phalanges |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Broad halluces |
|
|
|
|
12 / 7739
|
|
35
|
(OMIM)
|
Calcaneocuboidal fusions |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
37
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
38
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
39
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
40
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
41
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|