ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 602400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
2
 (HPO:0000498) Blepharitis 27 / 7739
3
 (HPO:0007957) Corneal opacity 84 / 7739
4
 (HPO:0000613) Photophobia 158 / 7739
5
 (HPO:0002212) Curly hair 21 / 7739
6
 (HPO:0003777) Pili torti 24 / 7739
7
 (HPO:0008070) Sparse hair 94 / 7739
8
 (HPO:0007431) Congenital ichthyosiform erythroderma 17 / 7739
9
 (HPO:0002299) Brittle hair 52 / 7739
10
 (HPO:0000966) Hypohidrosis rare [HPO:skoehler] 41 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: