|
1
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0000046)
|
Scrotal hypoplasia |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
162 / 7739
|
|
7
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
8
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
11
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
12
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
13
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
14
|
(HPO:0002084)
|
Encephalocele |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
15
|
(HPO:0002697)
|
Parietal foramina |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0001362)
|
Calvarial skull defect |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
17
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
18
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
19
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
20
|
(HPO:0002213)
|
Fine hair |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
21
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
22
|
(HPO:0001562)
|
Oligohydramnios |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
23
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
24
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
25
|
(HPO:0009924)
|
Aplasia/Hypoplasia involving the nose |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
26
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
27
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
28
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
29
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
30
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
31
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
32
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
33
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
34
|
(HPO:0000456)
|
Bifid nasal tip |
|
|
|
|
11 / 7739
|
|
35
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
|
|
85 / 7739
|
|
36
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
37
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
38
|
(HPO:0000633)
|
Decreased lacrimation |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
39
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
40
|
(HPO:0000966)
|
Hypohidrosis |
rare [HPO:skoehler]
|
|
|
|
41 / 7739
|
|
41
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
42
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
43
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|