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Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1

MedGen UID:
340145
Concept ID:
C1854146
Disease or Syndrome
Synonyms: DFNA39/DENTINOGENESIS IMPERFECTA 1 SYNDROME; DFNA39/DGI1 SYNDROME; DGI1/DFNA39 SYNDROME
 
Gene (location): DSPP (4q22.1)
 
Monarch Initiative: MONDO:0011571
OMIM®: 605594

Clinical features

From HPO
High-frequency hearing impairment
MedGen UID:
42358
Concept ID:
C0018780
Disease or Syndrome
A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Bilateral sensorineural hearing impairment
MedGen UID:
96788
Concept ID:
C0452138
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
Dentinogenesis imperfecta
MedGen UID:
8313
Concept ID:
C0011436
Congenital Abnormality
Developmental dysplasia of dentin.

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