loading...| Preferred Name | DEAFNESS, AUTOSOMAL RECESSIVE 1A | |
| Synonyms |
DEAFNESS, DIGENIC, GJB2/GJB6 DEAFNESS, DIGENIC, GJB2/GJB3 DFNB1A |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/220290 |
|
| altLabel |
DEAFNESS, DIGENIC, GJB2/GJB6 DEAFNESS, DIGENIC, GJB2/GJB3 DFNB1A |
|
| cui |
C2673759 C2673760 C2673761 |
|
| Gene Locus |
13q12 |
|
| Gene Symbol |
CX30 DFNA3B HED2 GJB6 DFNB1B ECTD2 |
|
| Has manifestation | ||
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
221600 221650 220700 |
|
| notation |
220290 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
DEAFNESS, AUTOSOMAL RECESSIVE 1A |
|
| Scope Statement |
Caused by mutation in the gap junction protein, beta-2 gene (GJB2, 121011.0002) [MOLECULAR BASIS] Caused by simultaneous mutation in both the gap junction protein, beta-2 gene (GJB2, 121011.0005) and the gap junction protein, beta-6 gene (GJB6, 604418.0004) [MOLECULAR BASIS] About half of patients report vestibular symptoms [MISCELLANEOUS] Caused by simultaneous mutation in both the gap junction protein, beta-2 gene (GJB2, 121011.0014) and the gap junction protein, beta-3 gene (GJB3, 603324.0011) [MOLECULAR BASIS] Digenic form caused by simultaneous heterozygous mutations in GJB2 and either GJB3 or GJB6 [MISCELLANEOUS] |
|
| tui |
T047 |