|
1
|
(HPO:0001601)
|
Laryngomalacia |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001605)
|
Vocal cord paralysis |
|
|
|
|
13 / 7739
|
|
6
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
7
|
(HPO:0010307)
|
Stridor |
|
|
|
|
19 / 7739
|
|
8
|
(OMIM)
|
Neonatal stridor |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Laryngeal abductor paralysis |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Infantile swallowing difficulty |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|