1
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
2
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
3
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
4
|
(HPO:0010769)
|
Pilonidal sinus |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
5
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
6
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
|
|
278 / 7739
|
7
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
8
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
9
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
10
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
11
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
13
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
14
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
15
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
16
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
17
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
|
|
|
|
132 / 7739
|
18
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
19
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
20
|
(HPO:0010285)
|
Oral synechia |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
21
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
22
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
23
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
24
|
(HPO:0000194)
|
Open mouth |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
25
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
26
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
27
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
28
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
29
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
30
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
31
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
32
|
(HPO:0000244)
|
Brachyturricephaly |
|
|
|
|
9 / 7739
|
33
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
34
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
35
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
36
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
37
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
38
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
39
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
40
|
(HPO:0002021)
|
Pyloric stenosis |
|
|
|
|
51 / 7739
|
41
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
42
|
(HPO:0007099)
|
Arnold-Chiari type I malformation |
|
|
|
|
18 / 7739
|
43
|
(HPO:0011217)
|
Abnormal shape of the occiput |
|
|
|
|
1 / 7739
|
44
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
45
|
(OMIM)
|
Normal linear growth |
|
|
|
|
2 / 7739
|
46
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
47
|
(OMIM)
|
Sagittal/lambdoid sutural ridging |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Narrow occiput |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Subocciptal indentation |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Tall forehead |
|
|
|
|
4 / 7739
|
51
|
(OMIM)
|
Asymmetric occiput |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Midface hypoplasia, mild |
|
|
|
|
3 / 7739
|
53
|
(OMIM)
|
Inferior displacement of the ears |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Oculomotor dyspraxia |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Normal development |
|
|
|
|
4 / 7739
|
56
|
(OMIM)
|
Nerve palsy |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Mega cisterna magna |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Chiari type I |
|
|
|
|
1 / 7739
|
59
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
60
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
61
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
62
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
63
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
64
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
65
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
66
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|