Isolated congenital alacrima

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 91416
OMIM Id: 103420
601549
ICD-10: Q10.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital alacrima
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000584) Punctate corneal epithelial erosions 3 / 7739
2
 (HPO:0000613) Photophobia 158 / 7739
3
 (HPO:0007820) Atretic lacrimal punctum 2 / 7739
4
 (HPO:0007732) Lacrimal gland hypoplasia 4 / 7739
5
 (HPO:0000522) Alacrima 14 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: