Disease #05056

Official abbreviation BMKS
Name Burn-McKeown syndrome (BMKS)
OMIM ID 608572
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 1 gene TXNL4A
Associated tissues -
Disease features -
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Individuals

14 entries on 1 page. Showing entries 1 - 14.
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00103805 - Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia - F no - - - 0 - - BMKS - TXNL4A TXNL4A 2 4 Jacqueline Goos
00103808 - Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia - M no - - - 0 - - BMKS - TXNL4A TXNL4A 1 1 Jacqueline Goos
00103810 - Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia - M yes - - - 0 - - BMKS - TXNL4A TXNL4A 1 1 Jacqueline Goos
00103846 25434003-FamBMKS001 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Germany - - 0 - - BMKS see paper; … TXNL4A TXNL4A 2 2 Johan den Dunnen
00103847 25434003-FamBMKS002 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Switzerland - - 0 - - BMKS see paper; …, initial clinical diagnosis of Treacher Collins syndrome TXNL4A TXNL4A 2 1 Johan den Dunnen
00103848 25434003-FamBMKS003 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - - Turkey - - 0 - - BMKS see paper; … TXNL4A - 0 1 Johan den Dunnen
00103849 25434003-FamBMKS004 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Viet Nam - - 0 - - BMKS see paper; … TXNL4A ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, PARD6G-AS1, PQLC1, RBFA, RBFADN, TXNL4A 2 1 Johan den Dunnen
00103850 25434003-FamBMKS005 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - 0 - - BMKS see paper; … TXNL4A TXNL4A 2 1 Johan den Dunnen
00103851 25434003-FamBMKS006 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Netherlands - - 0 - - BMKS see paper; … TXNL4A TXNL4A 2 1 Johan den Dunnen
00103852 25434003-FamBMKS007 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) - - 0 - - BMKS see paper; … TXNL4A ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, PARD6G-AS1, PQLC1, RBFA, RBFADN, TXNL4A 2 2 Johan den Dunnen
00103853 25434003-FamBMKS008 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 multi-generation family, >5 affected, unaffected heterozygous carrier parents/relatives M - - Alaska - 0 - - BMKS see paper; … TXNL4A TXNL4A 2 5 Johan den Dunnen
00103854 25434003-FamBMKS009 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) - - 0 - - BMKS see paper; … TXNL4A TXNL4A 2 1 Johan den Dunnen
00103855 25434003-FamBMKS010 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - 0 - - BMKS see paper; … TXNL4A TXNL4A 2 1 Johan den Dunnen
00103856 25434003-FamBMKS011 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - - Brazil - - 0 - - BMKS see paper; … TXNL4A - 0 1 Johan den Dunnen
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