|
1
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
2
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
3
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
4
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
5
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
6
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
7
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
8
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
10
|
(HPO:0000956)
|
Acanthosis nigricans |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
11
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
13
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
14
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
15
|
(HPO:0001561)
|
Polyhydramnios |
Occasional [Orphanet]
|
|
|
|
191 / 7739
|
|
16
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
|
17
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
18
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
19
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
20
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
21
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
22
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
23
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
24
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
25
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
26
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
27
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
28
|
(HPO:0010880)
|
Increased nuchal translucency |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
|
29
|
(HPO:0100781)
|
Abnormality of the sacroiliac joint |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
|
30
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
31
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
32
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
33
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
34
|
(HPO:0002536)
|
Abnormal cortical gyration |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
35
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
36
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
37
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
38
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
39
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
40
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
41
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
42
|
(HPO:0002676)
|
Cloverleaf skull |
|
|
|
|
14 / 7739
|