1
|
(HPO:0000311)
|
Round face |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
2
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
6
|
(HPO:0000496)
|
Abnormality of eye movement |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
7
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
8
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
9
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
10
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
12
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
13
|
(HPO:0000615)
|
Abnormality of the pupil |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
14
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
15
|
(HPO:0011067)
|
Mesiodens |
|
|
|
|
3 / 7739
|
16
|
(HPO:0011069)
|
Increased number of teeth |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
17
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
18
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
19
|
(HPO:0000269)
|
Prominent occiput |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
20
|
(HPO:0000199)
|
Tongue nodules |
|
|
|
|
5 / 7739
|
21
|
(HPO:0009912)
|
Abnormality of the tragus |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
22
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
23
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
24
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
25
|
(HPO:0000879)
|
Short sternum |
|
|
|
|
16 / 7739
|
26
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
27
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
28
|
(HPO:0001795)
|
Hyperconvex nail |
|
|
|
|
13 / 7739
|
29
|
(HPO:0001830)
|
Postaxial foot polydactyly |
|
|
|
|
37 / 7739
|
30
|
(HPO:0004404)
|
Abnormality of the nipple |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
31
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
32
|
(OMIM)
|
Macular red spot |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
See-saw eye winking |
|
|
|
|
1 / 7739
|
34
|
(HPO:0010297)
|
Bifid tongue |
|
|
|
|
17 / 7739
|
35
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
36
|
(HPO:0001167)
|
Abnormality of finger |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
38
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
39
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
40
|
(HPO:0100649)
|
Neoplasm of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
41
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
42
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|