Disease #03171

Official abbreviation DFNB-1B
Name deafness, autosomal recessive, type 1b (DFNB-1B)
OMIM ID 612645
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene GJB6
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00043756 - PubMed: del Castillo 2002, Journal: del Castillo 2002 2-generation family, affected sisters (parents I1/2) F no Spain - - 0 - - DFNB-1B - GJB2, GJB6 GJB6 1 1 Johan den Dunnen
00043757 - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases from Spain ? no Spain - - 0 - - DFNB-1B di-geneic inheritance; autosomal recessive non-syndromic hearing impairment CRYL1, GJB2, GJB6 CRYL1, GJB2, GJB6 2 10 Johan den Dunnen
00181514 - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Spain - - 0 - - DFNB-1B di-geneic inheritance; autosomal recessive non-syndromic hearing impairment GJB6 GJB2, GJB6 2 1 Johan den Dunnen
00181515 - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Spain - - 0 - - DFNB-1B di-geneic inheritance; autosomal recessive non-syndromic hearing impairment GJB6 GJB6 2 1 Johan den Dunnen
00181516 - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Italy - - 0 - - DFNB-1B di-geneic inheritance; autosomal recessive non-syndromic hearing impairment GJB6 GJB2, GJB6 2 1 Johan den Dunnen
00181517 - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - United Kingdom (Great Britain) - - 0 - - DFNB-1B di-geneic inheritance; autosomal recessive non-syndromic hearing impairment GJB6 GJB2, GJB6 2 4 Johan den Dunnen
00181518 - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Brazil - - 0 - - DFNB-1B di-geneic inheritance; autosomal recessive non-syndromic hearing impairment GJB6 GJB2, GJB6 2 1 Johan den Dunnen
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