Disease #01745

Official abbreviation DFNB-1A
Name deafness, autosomal recessive, type 1A (DFNB-1A, incl. di-genic)
OMIM ID 220290
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 3 genes GJB2, GJB3, GJB6
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Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00024131 - PubMed: Estivill 1998, Journal: Estivill 1998 - ? ? Spain - - 0 - - DFNB-1A - GJB2 GJB2 1 1 Johan den Dunnen
00043755 - PubMed: del Castillo 2002, Journal: del Castillo 2002 2-generation family, affected mother and father (parents of daugthers II1/2) - no Spain - - 0 - - DFNB-1A digenic inheritance; severe deafness GJB2, GJB6 GJB2, GJB6 2 2 Johan den Dunnen
00046611 - PubMed: Falk 2012; Journal: Falk 2012 4-generation family seggregating LCA and hearing loss, 7 affecteds (2 LCA, 2 hearing loss, 3 both), unaffected heterozygous carrier parents/sibs - yes Pakistan - - 0 - - DFNB-1A, LCA see paper; ... GJB2, NMNAT1 GJB2, NMNAT1 2 7 Johan den Dunnen
00060259 - PubMed: Behar 2014, Journal: Behar 2014 3-generation family, 1 affected, unaffected carrier parents/sibs; family segregates GJB2 and USH2A variants M no Israel Iraq, Jewish - 0 - - DFNB-1A Congenital, profound NSHL - GJB2 1 1 Zippi Brownstein
00092242 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 1 affected, unaffected heterozygous carrier mother/unaffected homozygous carrier father M no United States Filipino - 0 - - ?, DFNB-1A cardiomyopathy, sialicaciduria (may be benign), moderate stable sensorineural hearing loss GJB2, NPL GJB2 1 1 Johan den Dunnen
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