|
1
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
5
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
6
|
(HPO:0002136)
|
Broad-based gait |
rare [HPO:skoehler]
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0002883)
|
Hyperventilation |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0010808)
|
Protruding tongue |
|
|
|
|
28 / 7739
|
|
11
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
12
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
13
|
(HPO:0200134)
|
Epileptic encephalopathy |
common [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
14
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
15
|
(HPO:0001324)
|
Muscle weakness |
|
|
30873608
|
IBIS
|
859 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
17
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
18
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
30873608
|
IBIS
|
74 / 7739
|
|
19
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
30873608
|
IBIS
|
101 / 7739
|
|
20
|
(HPO:0012736)
|
Profound global developmental delay |
|
|
30873608
|
IBIS
|
3 / 7739
|
|
21
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
|
|
30873608
|
IBIS
|
34 / 7739
|
|
22
|
(HPO:0002275)
|
Poor motor coordination |
|
|
30873608
|
IBIS
|
6 / 7739
|
|
23
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
30873608
|
IBIS
|
197 / 7739
|
|
24
|
(HPO:0000733)
|
Stereotypy |
|
|
30873608
|
IBIS
|
58 / 7739
|
|
25
|
(HPO:0006979)
|
Sleep-wake cycle disturbance |
|
|
30873608
|
IBIS
|
5 / 7739
|
|
26
|
(HPO:0012450)
|
Chronic constipation |
|
|
30873608
|
IBIS
|
10 / 7739
|
|
27
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
30873608
|
IBIS
|
169 / 7739
|
|
28
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
30873608
|
IBIS
|
381 / 7739
|
|
29
|
(HPO:0000506)
|
Telecanthus |
|
|
30873608
|
IBIS
|
156 / 7739
|
|
30
|
(HPO:0002007)
|
Frontal bossing |
|
|
30873608
|
IBIS
|
366 / 7739
|
|
31
|
(HPO:0009890)
|
High anterior hairline |
|
|
30873608
|
IBIS
|
10 / 7739
|
|
32
|
(HPO:0000369)
|
Low-set ears |
|
|
30873608
|
IBIS
|
372 / 7739
|
|
33
|
(HPO:0002057)
|
Prominent glabella |
|
|
30873608
|
IBIS
|
8 / 7739
|
|
34
|
(HPO:0100876)
|
Infra-orbital crease |
|
|
30873608
|
IBIS
|
4 / 7739
|
|
35
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
30873608
|
IBIS
|
179 / 7739
|
|
36
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
30873608
|
IBIS
|
112 / 7739
|
|
37
|
(HPO:0000307)
|
Pointed chin |
|
|
30873608
|
IBIS
|
45 / 7739
|
|
38
|
(HPO:0000248)
|
Brachycephaly |
|
|
30873608
|
IBIS
|
222 / 7739
|
|
39
|
(HPO:0001357)
|
Plagiocephaly |
|
|
30873608
|
IBIS
|
106 / 7739
|