|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0002410)
|
Aqueductal stenosis |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
3
|
(HPO:0002084)
|
Encephalocele |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
4
|
(HPO:0001182)
|
Tapered finger |
Frequent [Orphanet]
|
|
|
|
93 / 7739
|
|
5
|
(HPO:0005264)
|
Abnormality of the gallbladder |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0000262)
|
Turricephaly |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
8
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0000275)
|
Narrow face |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
10
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
11
|
(HPO:0009776)
|
Adactyly |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0001852)
|
Sandal gap |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
|
13
|
(HPO:0001591)
|
Bell-shaped thorax |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
14
|
(HPO:0005207)
|
Gastric hypertrophy |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
16
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
17
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
18
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
19
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
20
|
(HPO:0004331)
|
Decreased skull ossification |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
21
|
(HPO:0001363)
|
Craniosynostosis |
Frequent [Orphanet]
|
|
|
|
132 / 7739
|
|
22
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
23
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
24
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
25
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
26
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
27
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
28
|
(HPO:0002983)
|
Micromelia |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
29
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
30
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
31
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
32
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
33
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
34
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
35
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
36
|
(HPO:0002244)
|
Abnormality of the small intestine |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
37
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
38
|
(HPO:0011849)
|
Abnormal bone ossification |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|