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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300066
http://purl.bioontology.org/ontology/OMIM/300066
|
|---|---|
| Preferred Name | DEAFNESS, X-LINKED 4 |
| Synonyms |
DEAFNESS, X-LINKED 6, PROGRESSIVE
DEAFNESS, NONSYNDROMIC SENSORINEURAL PROGRESSIVE 6
DFN6
DFNX4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DEAFNESS, X-LINKED 6, PROGRESSIVE
DEAFNESS, NONSYNDROMIC SENSORINEURAL PROGRESSIVE 6
DFN6
DFNX4
|
|---|---|
| prefLabel | DEAFNESS, X-LINKED 4
|
| Gene Symbol |
DFNX4
MPD7
SMPX
|
| Scope Statement | Caused by mutation in the X-linked small muscle protein gene (SMPX, 300226.0001) [MOLECULAR BASIS]
All patients have severe hearing loss 10 to 15 years after onset [MISCELLANEOUS]
Postlingual onset [MISCELLANEOUS]
Age at onset in females ranges from childhood to the fourth decade [MISCELLANEOUS]
Age at onset in males ranges from 3 to 7 years [MISCELLANEOUS]
Females carriers have more variable age at onset and severity [MISCELLANEOUS]
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|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | Xp22.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 300066
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1848204
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |