|
1
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
7
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
8
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
9
|
(HPO:0002553)
|
Highly arched eyebrow |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
10
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
11
|
(HPO:0001545)
|
Anteriorly placed anus |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
12
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
13
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
14
|
(HPO:0002023)
|
Anal atresia |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
15
|
(HPO:0011305)
|
Partial absence of toe |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
16
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
17
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
18
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|