Disease #02330 (DFNB7 (deafness, autosomal recessive, type 7 (DFNB-7)), OMIM:600974)

Official abbreviation DFNB7
Name deafness, autosomal recessive, type 7 (DFNB-7)
OMIM ID 600974
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 1 gene TMC1
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Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00059045 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - no Israel Jewish-mixed - 0 - - DFNB7 congenital, profound hearing loss - TMC1 1 1 Zippi Brownstein
00059046 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - yes Israel Druze - 0 - - DFNB7 congenital, profound hearing loss - TMC1 1 2 Zippi Brownstein
00059047 - Karen Avraham laboratory, Tel Aviv university, Israel, unpublished - - no Israel Jewish-Ashkenazi;Algeria - 0 - - DFNB7 congenital, profound hearing loss - TMC1 2 2 Zippi Brownstein
00060243 - PubMed: Brownstein 2011, Journal: Brownstein 2011 3-generation family, 4 affected3 (F, 3M), unaffected heterozygous carrier parents/sibs F;M no Israel Morocco;Jewish - 0 - - DFNB7 Congenital, profound NSHL - TMC1 2 4 Zippi Brownstein
00060244 - PubMed: Brownstein 2011, Journal: Brownstein 2011 2-generation family, 1affected sister/brother, unaffected heterozygous carrier parents F;M no Israel Morocco;Jewish - 0 - - DFNB7 Congenital, profound NSHL - TMC1 1 2 Zippi Brownstein
00060253 - PubMed: Brownstein 2011, Journal: Brownstein 2011 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/sibs F;M no Israel Morocco;Jewish - 0 - - DFNB7 Congenital, profound NSHL - TMC1 2 3 Zippi Brownstein
00060254 - PubMed: Brownstein 2011, Journal: Brownstein 2011 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/sibs F;M no Israel Morocco;Jewish - 0 - - DFNB7 Congenital, profound NSHL - TMC1 2 3 Zippi Brownstein
00383282 FR01199350441 Vaché et al., submitted - M yes ? (unknown) - - 0 - - DFNB7 bilateral symmetric severe group one hearing loss - TMC1 2 1 David Baux
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