Disease #02357

Official abbreviation DFNB-12
Name deafness, autosomal recessive, type 12 (DFNB-12)
OMIM ID 601386
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 2 genes ATP2B2, CDH23
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00059022 - Hereditary Research Lab, Bethlehem Univ, unpublished data - F yes Palestine Arab - 0 - - DFNB-12 congenital severe hearing loss - CDH23 1 2 Mary-Claire King
00060241 - PubMed: Brownstein 2011, Journal: Brownstein 2011 3-generation family, 9 affecteds (4F, 5M), unaffected heterozygous carrier parents/sibs F;M no Israel Algerian, Jewish - 0 - - DFNB-12 Congenital, profound NSHL - CDH23 1 9 Zippi Brownstein
00060242 - PubMed: Brownstein 2011, Journal: Brownstein 2011 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/sib F;M yes Israel Algerian, Jewish - 0 - - DFNB-12 Congenital profound NSHL - CDH23 1 2 Zippi Brownstein
00081084 - Trujillano et al., submitted unaffected heterozygous carrier parents - - - - - 0 - - DFNB-12 Deafness, autosomal recessive 12 (OMIM:601386) CDH23 CDH23 1 1 Daniel Trujillano
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