|
1
|
(HPO:0002251)
|
Aganglionic megacolon |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
6
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
|
7
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
11
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
|
|
73 / 7739
|
|
12
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
13
|
(HPO:0002791)
|
Hypoventilation |
|
|
|
|
10 / 7739
|
|
14
|
(HPO:0003005)
|
Ganglioneuroma |
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0003006)
|
Neuroblastoma |
|
|
|
|
16 / 7739
|
|
16
|
(HPO:0004370)
|
Abnormality of temperature regulation |
|
|
|
|
58 / 7739
|
|
17
|
(HPO:0006747)
|
Ganglioneuroblastoma |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
19
|
(OMIM)
|
Diminished pupillary light responses |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Shallow breathing |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Normal respiratory rate |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Periods of apnea |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Abnormal respiration due to defect in autonomic function |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Decreased sensitivity to hypercapnia and hypoxemia |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Dysfunction of the autonomic nervous system |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Decreased basal body temperature |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Tumors of the sympathetic nervous system (5 to 10%) |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Chronic hypoxemia |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Chronic hypercapnia |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
31
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
32
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
33
|
(HPO:0007110)
|
Central hypoventilation |
|
|
|
|
6 / 7739
|