All individuals with variants in gene BHLHA9

19 entries on 1 page. Showing entries 1 - 19.
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00165041 bd PubMed: Ullah 2019 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan SINDHI - - - - MSSD syndactyly, polydactyly, phalangeal reduction and hypoplastic nails,camptodactyly with hypoplastic nails, bilateral mesoaxial synostotic syndactyly, and postaxial polydactyly in the right hand 1 3 Muhammad Umair
00229606 BHLHA9 PubMed: Khan 2019, Journal: Khan 2019 5-generation family, 2 affected brothers M yes Pakistan - - - - - ? see paper; ..., mesoaxial synostotic syndactyly, postaxial polydactyly 1 2 Asmat Ullah
00408117 Fam1PatIV-7 PubMed: Malik 2014, Journal: Malik 2014 4-generation family, 8 affected (3F, 5M), unaffected heterozygous carrier parents/relatives M yes Pakistan Punjab - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) 1 8 Johan den Dunnen
00408118 Fam1PatIV-5 PubMed: Malik 2014, Journal: Malik 2014 - M yes Pakistan Punjab - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) 1 1 Johan den Dunnen
00408119 Fam1PatIV-1 PubMed: Malik 2014, Journal: Malik 2014 - F yes Pakistan Punjab - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; no mesoaxial webbing (2/3 toes) 1 1 Johan den Dunnen
00408120 Fam1PatIV-2 PubMed: Malik 2014, Journal: Malik 2014 - M yes Pakistan Punjab - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) 1 1 Johan den Dunnen
00408121 Fam2PatV-3 PubMed: Malik 2014, Journal: Malik 2014 5-generation family, 8 affected (F, 2M), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) 1 3 Johan den Dunnen
00408122 Fam2PatV-1 PubMed: Malik 2014, Journal: Malik 2014 - M yes Turkey - - - - - MSSD mesoaxial reduction finger; short index finger; no clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) 1 1 Johan den Dunnen
00408123 Fam2PatIV-4 PubMed: Malik 2014, Journal: Malik 2014 - M yes Turkey - - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) 1 1 Johan den Dunnen
00408124 Fam3PatIV-2 PubMed: Malik 2014, Journal: Malik 2014 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives2 M yes Turkey - - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) 1 2 Johan den Dunnen
00408125 Fam3PatIV-4 PubMed: Malik 2014, Journal: Malik 2014 sister F yes Turkey - - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; mesoaxial webbing (2/3 toes) 1 1 Johan den Dunnen
00408126 Fam4PatIV-1 PubMed: Malik 2014, Journal: Malik 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Italy - - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; mesoaxial webbing (2/3 toes) 1 1 Johan den Dunnen
00408127 Fam5PatII-1 PubMed: Malik 2014, Journal: Malik 2014 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan Sindh - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; no mesoaxial webbing (2/3 toes) 1 1 Johan den Dunnen
00408128 Fam6PatIII-4 PubMed: Malik 2014, Journal: Malik 2014 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives2 M yes Pakistan KPK - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; mesoaxial webbing (2/3 toes) 1 2 Johan den Dunnen
00408129 patient PubMed: Phadke 2016 2-generation family, 2 affected (one fetus), unaffected heterozygous carrier parents F yes India - - - - - CCSPD see paper; ..., polydactyly with two digits arising from dorsum hands, syndactyly, camptodactyly some fingers, dysplastic nails, syndactyly toes, no other malformation, normal growth, normal development 1 1 Johan den Dunnen
00408131 - PubMed: Khan 2017 2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - MSSD see paper; ..., mesoaxial synostotic syndactyly with phalangeal reduction 1 5 Johan den Dunnen
00408148 patient PubMed: Diaz-Gonzalez 2020 - F - Spain - - - - - MSSD see paper; ..., four digits both hands due to bilateral complete cutaneous and osseous syndactyly third and fourth fingers; bilateral fifth finger clinodactyly; bilateral shortening and broadening first toe, broad second toe, bilateral clinodactyly fourth toe; partial cutaneous syndactyly second and third toes; hypoplastic nails fingers and toes; no other malformations, no reduced functionality, no skeletal abnormalities in parents. 2 1 Johan den Dunnen
00408149 family PubMed: Sedighzadeh 2021 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - MSSD see paper; ... 1 2 Johan den Dunnen
00408160 family PubMed: Paththinige 2019 2-generation family, affected mother/daughter F no Sri Lanka - - - - - SHFM see paper; ..., split hand/foot malformation, long bone deficiency 1 2 Johan den Dunnen
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