|
1
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0002084)
|
Encephalocele |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
3
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
4
|
(HPO:0009380)
|
Aplasia of the fingers |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
5
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
6
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
8
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
132 / 7739
|
|
9
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
|
10
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
11
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
12
|
(HPO:0009932)
|
Single naris |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
14
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
15
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
16
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
17
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
18
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
19
|
(HPO:0004060)
|
Trident hand |
Frequent [Orphanet]
|
|
|
|
13 / 7739
|
|
20
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
21
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
22
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
23
|
(HPO:0000204)
|
Cleft upper lip |
Very frequent [Orphanet]
|
|
|
|
193 / 7739
|
|
24
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
25
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
26
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
27
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
28
|
(HPO:0000873)
|
Diabetes insipidus |
|
|
|
|
34 / 7739
|
|
29
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
30
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
31
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
32
|
(HPO:0003228)
|
Hypernatremia |
|
|
|
|
12 / 7739
|
|
33
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
34
|
(HPO:0005466)
|
Hypoplasia of the frontal bone |
|
|
|
|
3 / 7739
|
|
35
|
(HPO:0006870)
|
Lobar holoprosencephaly |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
37
|
(HPO:0008213)
|
Gonadotropin deficiency |
|
|
|
|
6 / 7739
|
|
38
|
(HPO:0100257)
|
Ectrodactyly |
|
|
|
|
27 / 7739
|
|
39
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
|
40
|
(OMIM)
|
Vermian hypoplasia |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
42
|
(HPO:0012443)
|
Abnormality of brain morphology |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
43
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
44
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
45
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|