1
|
(HPO:0008069)
|
Neoplasm of the skin |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
2
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
3
|
(HPO:0002027)
|
Abdominal pain |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
4
|
(HPO:0011848)
|
Abdominal colic |
|
|
|
|
8 / 7739
|
5
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
6
|
(HPO:0100021)
|
Cerebral palsy |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
7
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
8
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
9
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
10
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
11
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
12
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
16
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
17
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
18
|
(HPO:0002203)
|
Respiratory paralysis |
|
|
|
|
4 / 7739
|
19
|
(HPO:0003163)
|
Elevated urinary delta-aminolevulinic acid |
|
|
|
|
4 / 7739
|
20
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
21
|
(HPO:0003470)
|
Paralysis |
|
|
|
|
11 / 7739
|
22
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
23
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
24
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
25
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
26
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
27
|
(MedDRA:10036181)
|
Porphyria |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Erythrocyte delta-aminolevulinate dehydratase (ALAD) deficiency |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Elevated urinary delta-aminolevulinic acid and porphyrins |
|
|
|
|
1 / 7739
|
30
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|