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Autosomal recessive nonsyndromic hearing loss 84A(DFNB84; DFNB84A)

MedGen UID:
462004
•Concept ID:
C3150654
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 84; DEAFNESS, AUTOSOMAL RECESSIVE 84A; DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION
 
Gene (location): PTPRQ (12q21.31)
 
Monarch Initiative: MONDO:0013249
OMIM®: 613391

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene. [from MONDO]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature
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
Motor delay
MedGen UID:
381392
•Concept ID:
C1854301
•
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Supplemental Content