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Hearing loss, autosomal recessive 118, with cochlear aplasia(DFNB118)

MedGen UID:
1794206
•Concept ID:
C5561996
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 118, with cochlear aplasia
 
Monarch Initiative: MONDO:0030449
OMIM®: 619553

Definition

DFNB118 is characterized by congenital profound sensorineural hearing loss and cochlear aplasia (Bademci et al., 2020). [from OMIM]

Clinical features

From HPO
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature
Congenital sensorineural hearing impairment
MedGen UID:
356101
•Concept ID:
C1865866
•
Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
See: Feature record | Search on this feature
Cochlear aplasia
MedGen UID:
868976
•Concept ID:
C4023390
•
Finding
Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.
See: Feature record | Search on this feature

Supplemental Content

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    • OMIM
      Related records in OMIM

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