MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 251800
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:0000324) Facial asymmetry 57 / 7739
2
(HPO:0000154) Wide mouth 137 / 7739
3
(HPO:0009892) Anotia 8 / 7739
4
(HPO:0008773) Aplasia/Hypoplasia of the middle ear 2 / 7739
5
(HPO:0000405) Conductive hearing impairment 164 / 7739
6
(HPO:0008551) Microtia 98 / 7739
7
(OMIM) Meatal atresia 1 / 7739
8
(OMIM) Ear tags 2 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ellwood et al. (1968) reported 2 sibships: the first, with first-cousin parents, included a brother and sister with bilateral anotia and meatal atresia; the other included 2 brothers, one with unilateral microtia and bilateral meatal atresia and the ...