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Deafness-ear malformation-facial palsy syndrome

MedGen UID:
338900
•Concept ID:
C1852292
•
Disease or Syndrome
Synonym: Deafness, conductive stapedial, with ear malformation and facial palsy
 
Monarch Initiative: MONDO:0007421
OMIM®: 124490
Orphanet: ORPHA3232

Definition

Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeafness-ear malformation-facial palsy syndrome
Follow this link to review classifications for Deafness-ear malformation-facial palsy syndrome in Orphanet.

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