DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 221300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000135) Hypogonadism 89 / 7739
2
(HPO:0000377) Abnormality of the pinna 111 / 7739
3
(HPO:0000405) Conductive hearing impairment 164 / 7739
4
(HPO:0004452) Abnormality of the middle ear ossicles 26 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Low-set external ears 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 sibships in a Mennonite isolate, Mengel et al. (1969) observed 6 persons with conductive deafness and malformed, low-set external ears. The 4 parents shared a common ancestral couple. At operation, malformation of the ossicles was demonstrated ...