DARWINIAN TUBERCLE OF PINNA

General Information (adopted from Orphanet):

Synonyms, Signs: DARWINIAN POINT OF PINNA DARWINIAN NOTCH, INCLUDED
Number of Symptoms 3
OrphanetNr:
OMIM Id: 124300
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:0000598) Abnormality of the ear 98 / 7739
2
(OMIM) Expansion of helical fold at superior point of true longitudinal axis of ear 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ayers (1899) reported a 3-month-old black fetus with 'pithecoid' ears, involving the presence of a Darwinian point on the outer helix that was more prominent on the left than the right. In addition, the author described a trough ...