All individuals with variants in gene DDX11

24 entries on 1 page. Showing entries 1 - 24.
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00000200 FamPat1 PubMed: Capo-Chichi 2013 5-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives F yes Lebanon Lebanon - - - - WABS no family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; no retrognathia; sloping/small forehead; clinodactily; no bulbous nose; cochlear abnormalities; small nares; short neck; single palmar crease; no syndactyly; no heart abnormality; hypotonia 1 3 Fadi F. Hamdan
00025472 WABS04 PubMed: van Schie 2020 2-generation family, 1 affected, unaffected heterozygous carrier mother F no Netherlands white - - - - WABS no family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; skin abnormalities; clinodactily; bulbous nose; seizures; lung abnormality; diabetes mellitus; hypotelorism 2 1 Najim Ameziane
00025473 WABS03 PubMed: van Schie 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Uruguay - - - - - WABS microcephaly; sensorineural hearing loss; postnatal growth restriction; retrognathia; congenital hypothyroidism; broncho-obstructive episodes 2 1 Najim Ameziane
00025474 WABS05 PubMed: van Schie 2020 2-generation family, affected brother/sister, unaffected heterozygous carrier mother M - Croatia (Hrvatska) white - - - - WABS microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; epicanthus; no small/dysplastic ears; brain abnormalities; congenital hypothyroidism; short neck; single palmar crease; high-arched palate; lung abnormality 2 2 Najim Ameziane
00374709 R-0100 PubMed: Ganapathy 2019 - - - India - - - - - ? - 2 1 Johan den Dunnen
00397931 WABS06 PubMed: van Schie 2020 sister F - Croatia (Hrvatska) white - - - - WABS microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; epicanthus; brain abnormalities; short neck; single palmar crease; high-arched palate 2 1 Najim Ameziane
00397932 FamPat2 PubMed: Capo-Chichi 2013 brother M yes Lebanon Lebanon - - - - WABS no family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no clinodactily; no bulbous nose; small nares; short neck; no syndactyly; tetraology of Fallot 1 1 Fadi F. Hamdan
00397933 FamPat3 PubMed: Capo-Chichi 2013 sister F yes Lebanon Lebanon - - - - WABS no family history miscarriages; microcephaly; sensorineural hearing loss; postnatal growth restriction; intellectual disability; sloping/small forehead; no clinodactily; no bulbous nose; small nares; short neck; no syndactyly; no heart abnormality 1 1 Fadi F. Hamdan
00397934 patient PubMed: Bailey 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - - - - - WABS see paper; ..., family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; congenital hypothyroidism; no seizures; syndactyly; patent ductus arteriosus; feeding problems; multicystic kidney 2 1 Johan den Dunnen
00397936 WABS01 PubMed: van der Lelij 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - WABS see paper; ..., family history malignancy; family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; no congenital hypothyroidism; syndactyly; ventricular septal defect; high-arched palate 2 1 Johan den Dunnen
00397937 WABS02 PubMed: van Schie 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - NBS microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; skin abnormalities; cochlear abnormalities; epicanthus; no small/dysplastic ears; no brain abnormalities; seizures; feeding problems; 2 1 Johan den Dunnen
00397938 WABS07 PubMed: van Schie 2020 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents M no Netherlands - <0d - - - WABS family history miscarriages; aborted fetus, microcephaly; prenatal growth restriction, abnormal placenta; retrognathia; skin abnormalities; bulbous nose; no small nares; brain abnormalities; pulmonary hypoplasia; kidney dysplasia 2 2 Johan den Dunnen
00397939 WABS08 PubMed: van Schie 2020 fetus M no Netherlands - <0d - - - WABS family history miscarriages; aborted fetus, microcephaly; prenatal growth restriction, abnormal placenta; retrognathia; skin abnormalities; bulbous nose; 2 1 Johan den Dunnen
00397940 FamPat1 PubMed: Eppley 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no United States - - - - - WABS see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; sloping/small forehead; skin abnormalities; clinodactily; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; small thumbs; no seizures; no single palmar crease; no syndactyly; hypotonia; early menarche 2 2 Johan den Dunnen
00397941 FamPat2 PubMed: Eppley 2017 sister F no United States - - - - - WABS see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; sloping/small forehead; skin abnormalities; clinodactily; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; small thumbs, small fibulae; no seizures; no single palmar crease; no syndactyly; hypotonia; early menarche 2 1 Johan den Dunnen
00397942 Pat1 PubMed: Alkhunazi 2018 - M no Croatia (Hrvatska) - - - - - WABS see paper; ..., family history malignancy; ; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; brain abnormalities; seizures; syndactyly; no heart abnormality; no hypotonia 2 1 Johan den Dunnen
00397943 Pat2 PubMed: Alkhunazi 2018 - M yes Pakistan - - - - - WABS see paper; ..., family history malignancy; family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; small nares; small/dysplastic ears; brain abnormalities; syndactyly; patent ductus arteriosus, atrial septal defect; hypotonia; no kidney abnormality; 1 1 Johan den Dunnen
00397944 Pat3 PubMed: Alkhunazi 2018 - F yes Saudi Arabia - - - - - WABS see paper; ..., no family history malignancy; ; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; talipes equino varus; syndactyly; ventricular septal defect; no hypotonia 1 1 Johan den Dunnen
00397945 Pat4 PubMed: Alkhunazi 2018 - M yes Saudi Arabia - - - - - WABS see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; brain abnormalities; craniosynostosis; no heart abnormality; no hypotonia; no kidney abnormality 1 1 Johan den Dunnen
00397946 Pat5 PubMed: Alkhunazi 2018 - M yes Egypt - - - - - WABS see paper; ..., no family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; small nares; small/dysplastic ears; brain abnormalities; no heart abnormality; no hypotonia; no kidney abnormality; 1 1 Johan den Dunnen
00397947 FamPat1 PubMed: Bottega 2019 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Italy - - - - - WABS see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; no intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; 2 2 Johan den Dunnen
00397948 FamPat2 PubMed: Bottega 2019 sister F no Italy - - - - - WABS see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; bilateral shortening first metacarpal bone 2 1 Johan den Dunnen
00397949 Pat1 PubMed: Rabin 2019 - M no United States Jewish - - - - WABS see paper; ..., family history malignancy; no family history miscarriages; microcephaly; sensorineural hearing loss; abnormal placenta; postnatal growth restriction; intellectual disability; no skin abnormalities; clinodactily; bilateral limitation extension elbow; congenital hypothyroidism; seizures; no heart abnormality; high-arched palate, narrow palate; no feeding problems; diabetes mellitus; no kidney abnormality; hypotelorism 1 1 Johan den Dunnen
00397950 Pat2 PubMed: Rabin 2019 - F no United States Jewish - - - - WABS see paper; ..., family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; skin abnormalities; clinodactily; cochlear abnormalities; brain abnormalities; dislocation elbow; congenital hypothyroidism; seizures; systolic murmur; high-arched palate; feeding problems; no diabetes mellitus 1 1 Johan den Dunnen
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