|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
6
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
7
|
(HPO:0000637)
|
Long palpebral fissure |
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
13
|
(HPO:0001357)
|
Plagiocephaly |
|
|
|
|
106 / 7739
|
|
14
|
(HPO:0001545)
|
Anteriorly placed anus |
|
|
|
|
55 / 7739
|
|
15
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
16
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
17
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
18
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
19
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
20
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
21
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
|
22
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
23
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
24
|
(OMIM)
|
Ventral septal defect (VSD) |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Feeding problems necessitating tube feeding (in some patients) |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Anovestibular fistula (in some patients) |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0004378)
|
Abnormality of the anus |
|
|
|
|
34 / 7739
|
|
28
|
(OMIM)
|
Bilateral adducted forefoot (rare) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Curved nails |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
31
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
32
|
(OMIM)
|
Athetoid and dystonic hand movements (in some patients) |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Moderate cortical atrophy (in some patients) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Delayed myelinization (in some patients) |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|