|
1
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
2
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
3
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
4
|
(HPO:0000637)
|
Long palpebral fissure |
|
|
|
|
21 / 7739
|
|
5
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
6
|
(HPO:0002566)
|
Intestinal malrotation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
7
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
8
|
(HPO:0000119)
|
Abnormality of the genitourinary system |
|
|
|
|
34 / 7739
|
|
9
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
10
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
11
|
(HPO:0002580)
|
Volvulus |
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
13
|
(HPO:0005234)
|
Neonatal intestinal obstruction |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Major obstetrical abnormalities |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Boxy head |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Midgut volvulus |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Abdominal distention and pain |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Thick fibromuscular disc on stomach antrum |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Atresia of ascending colon |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0012905)
|
Euryblepharon |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|