Symptom Information: Sort according to HPO 

1
 (HPO:0003355) Aminoaciduria Frequent [Orphanet] 16602095 IBIS 65 / 7739
2
 (HPO:0004337) Abnormality of amino acid metabolism Frequent [Orphanet] 16602095 IBIS 45 / 7739
3
 (HPO:0000491) Keratitis Very frequent [Orphanet] 23954227 IBIS 21 / 7739
4
 (HPO:0000509) Conjunctivitis Very frequent [Orphanet] 12548382 IBIS 47 / 7739
5
 (HPO:0000554) Uveitis Very frequent [Orphanet] 22389994 IBIS 10 / 7739
6
 (HPO:0001337) Tremor Occasional [Orphanet] 21145993 IBIS 200 / 7739
7
 (HPO:0008066) Abnormal blistering of the skin Frequent [Orphanet] 11589874 IBIS 20 / 7739
8
 (HPO:0000613) Photophobia Frequent [Orphanet] 25119963 IBIS 158 / 7739
9
 (HPO:0000972) Palmoplantar hyperkeratosis Very frequent [Orphanet] hallmark [HPO] 22389994 IBIS 41 / 7739
10
 (HPO:0000982) Palmoplantar keratoderma Very frequent [Orphanet] 16309482 IBIS 40 / 7739
11
 (HPO:0001251) Ataxia Occasional [Orphanet] occasional [HPO] 11589874 IBIS 413 / 7739
12
 (HPO:0002066) Gait ataxia Occasional [Orphanet] occasional [HPO] 16309482 IBIS 327 / 7739
13
 (HPO:0002141) Gait imbalance Occasional [Orphanet] 16309482 IBIS 55 / 7739
14
 (HPO:0002311) Incoordination Occasional [Orphanet] 21145993 IBIS 84 / 7739
15
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 16309482 IBIS 212 / 7739
16
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 22389994 IBIS 216 / 7739
17
 (HPO:0000975) Hyperhidrosis Frequent [Orphanet] 8912606 IBIS 64 / 7739
18
 (HPO:0001597) Abnormality of the nail Occasional [Orphanet] 16309482 IBIS 115 / 7739
19
 (HPO:0007759) Opacification of the corneal stroma Very frequent [Orphanet] 22389994 IBIS 77 / 7739
20
 (HPO:0007957) Corneal opacity Very frequent [Orphanet] hallmark [HPO] 22389994 IBIS 84 / 7739
21
 (HPO:0011496) Corneal neovascularization Very frequent [Orphanet] 8912606 IBIS 7 / 7739
22
 (HPO:0200034) Papule Very frequent [Orphanet] 12548382 IBIS 12 / 7739
23
 (HPO:0001249) Intellectual disability Very frequent [Orphanet] 22389994 IBIS 1089 / 7739
24
 (HPO:0001263) Global developmental delay Very frequent [Orphanet] 16602095 IBIS 853 / 7739
25
 (HPO:0001270) Motor delay Very frequent [Orphanet] 11589874 IBIS 322 / 7739
26
 (HPO:0001328) Specific learning disability Very frequent [Orphanet] 16309482 IBIS 114 / 7739
27
 (HPO:0000639) Nystagmus Frequent [Orphanet] 12548382 IBIS 555 / 7739
28
 (HPO:0000505) Visual impairment Occasional [Orphanet] 16684290 IBIS 297 / 7739
29
 (HPO:0000951) Abnormality of the skin 16602095 IBIS 147 / 7739
30
 (HPO:0001508) Failure to thrive 16309482 IBIS 454 / 7739
31
 (HPO:0001510) Growth delay 16309482 IBIS 295 / 7739
32
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 16309482 IBIS 308 / 7739
33
 (HPO:0003161) 4-Hydroxyphenylpyruvic aciduria 16602095 IBIS 4 / 7739
34
 (HPO:0003231) Hypertyrosinemia 16602095 IBIS 8 / 7739
35
 (HPO:0007812) Herpetiform corneal ulceration 16602095 IBIS 1 / 7739
36
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 16602095 IBIS 70 / 7739
37
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 11589874 IBIS 230 / 7739
38
 (OMIM) Tyrosine transaminase deficiency 16602095 IBIS 1 / 7739
39
 (OMIM) Normal phenylalanine level 16309482 IBIS 1 / 7739
40
 (OMIM) Soluble tyrosine aminotransferase (TAT) deficiency 16602095 IBIS 1 / 7739
41
 (OMIM) Phenylaceticacidemia 16602095 IBIS 1 / 7739
42
 (OMIM) Painful punctate keratoses of digits, palms, and soles 16602095 IBIS 1 / 7739
43
 (HPO:0003607) 4-Hydroxyphenylacetic aciduria 16602095 IBIS 3 / 7739
44
 (HPO:0000531) Corneal crystals 25119963 IBIS 9 / 7739
45
 (HPO:0009926) Increased lacrimation 22389994 IBIS 8 / 7739
46
 (HPO:0000643) Blepharospasm 22389994 IBIS 20 / 7739
47
 (HPO:0001131) Corneal dystrophy 22389994 IBIS 56 / 7739
48
 (HPO:0000742) Self-mutilation 16309482 IBIS 27 / 7739