|
1
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
4
|
(HPO:0000331)
|
Short chin |
rare [HPO:skoehler]
|
|
|
|
33 / 7739
|
|
5
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
rare [HPO:skoehler]
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000522)
|
Alacrima |
|
|
|
|
14 / 7739
|
|
8
|
(HPO:0000559)
|
Corneal scarring |
|
|
|
|
9 / 7739
|
|
9
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
10
|
(HPO:0001188)
|
Hand clenching |
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
12
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
13
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
14
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
15
|
(HPO:0001649)
|
Tachycardia |
|
|
|
|
53 / 7739
|
|
16
|
(HPO:0001662)
|
Bradycardia |
|
|
|
|
41 / 7739
|
|
17
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
18
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
19
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
20
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
21
|
(HPO:0003093)
|
Limited hip extension |
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0007610)
|
Blotching pigmentation of the skin |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
24
|
(OMIM)
|
Paucity of facial expression |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Decreased or absent corneal reflexes |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Persistently open mouth |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Decreased fungiform papillae on the tongue |
|
|
|
|
1 / 7739
|
|
28
|
(MedDRA:10023533)
|
Labile blood pressure |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
|
|
|
|
22 / 7739
|
|
30
|
(HPO:0002271)
|
Autonomic dysregulation |
|
|
|
|
11 / 7739
|
|
31
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
|
32
|
(OMIM)
|
Poor respiratory effort |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Apnea, episodic |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Erythematous blotching, episodic |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Sweating, episodic |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Absent axonal flare response after intradermal histamine injection |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Lack of neurologic development |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Decreased pain response |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Autonomic symptoms |
|
|
|
|
6 / 7739
|
|
40
|
(HPO:0001955)
|
Unexplained fevers |
|
|
|
|
7 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
42
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
|
|
78 / 7739
|