PTERYGIUM COLLI, ISOLATED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 177990
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000286) Epicanthus 371 / 7739
2
 (HPO:0003196) Short nose 264 / 7739
3
 (HPO:0002162) Low posterior hairline 88 / 7739
4
 (HPO:0000465) Webbed neck 81 / 7739
5
 (HPO:0000411) Protruding ear 140 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (OMIM) Loose facial skin 1 / 7739
8
 (OMIM) Uplifted lower pinna 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: