|
1
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000616)
|
Miosis |
|
|
|
|
11 / 7739
|
|
4
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
6
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
9
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
12
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
13
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
14
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
15
|
(HPO:0002451)
|
Limb dystonia |
|
|
|
|
16 / 7739
|
|
16
|
(HPO:0002509)
|
Limb hypertonia |
|
|
|
|
13 / 7739
|
|
17
|
(HPO:0002615)
|
Hypotension |
|
|
|
|
52 / 7739
|
|
18
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
19
|
(HPO:0003785)
|
Decreased CSF homovanillic acid |
|
|
|
|
7 / 7739
|
|
20
|
(HPO:0005964)
|
Intermittent hypothermia |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0005968)
|
Temperature instability |
|
|
|
|
5 / 7739
|
|
22
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
23
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
24
|
(HPO:0010553)
|
Oculogyric crisis |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0012384)
|
Rhinitis |
|
|
|
|
18 / 7739
|
|
26
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
27
|
(OMIM)
|
Impaired voluntary movement |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Paroxysmal oculogyric crises |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Opisthotonic posturing |
|
|
|
|
4 / 7739
|
|
30
|
(OMIM)
|
Orofacial dystonia |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Autonomic abnormalities |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Paroxysmal sweating |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Decreased activity of aromatic L-amino acid decarboxylase (AADC) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Decreased CSF 5-hydroxyindoleacetic acid (5-HIAA) |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Decreased plasma catecholamines |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Decreased whole blood serotonin |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Increased CSF, plasma, and urinary L-dopa |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Increased CSF, plasma, and urinary 5-hydroxytryptophan (5HTP) |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Increased CSF, plasma, and urinary 3-ortho-methyldopa (3-OMD) |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Increased CSF, plasma, and urinary 3-methoxytyrosine |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Increased urinary dopamine and dopamine metabolites (paradoxical) |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
43
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|