Disease #02283 (DFNB-2 (deafness, autosomal recessive, type 2 (DFNB-2)), OMIM:600060)

Official abbreviation DFNB-2
Name deafness, autosomal recessive, type 2 (DFNB-2)
OMIM ID 600060
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene MYO7A
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00060231 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Israel Uzbekistan;Jewish - 0 - - DFNB-2 Congenital, severe HL - MYO7A 1 1 Zippi Brownstein
00060232 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Israel Turkey;Jewish - 0 - - DFNB-2 Congenital, moderate HL - MYO7A 2 1 Zippi Brownstein
00060237 - PubMed: Brownstein 2014, Journal: Brownstein 2014 digenic inheritance DFNB2/DFNB23 - no Israel Jewish-Ashkenazi - 0 - - DFNB-2 di-genic inheritance; congenital, profound - MYO7A, PCDH15 2 1 Zippi Brownstein
00060238 - PubMed: Brownstein 2014, Journal: Brownstein 2014 - - no Israel Jewish-Ashkenazi - 0 - - DFNB-2 Congenital profound HL - MYO7A 2 1 Zippi Brownstein
00060289 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Israel Arab, Palestinian - 0 - - DFNB-2 congenital, NSHL MYO7A MYO7A 1 1 Johan den Dunnen
00060290 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents F;M yes Israel Arab, Palestinian - 0 - - DFNB-2 congenital, NSHL MYO7A MYO7A 1 3 Johan den Dunnen
00060291 - PubMed: Brownstein 2014, Journal: Brownstein 2014 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F;M yes Israel Arab, Palestinian - 0 - - DFNB-2 congenital, NSHL MYO7A MYO7A 1 2 Johan den Dunnen
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