All individuals with variants in gene FUZ

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00292179 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00375537 - Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis - F yes (Turkey) - - - - - craniosynost. craniosynostosis, metopic suture 1 2 Jacqueline Goos
00388439 R11-569 PubMed: Zhang 2018 - - - - African American - - - - ? polydactyly 1 1 LOVD
00388463 R98-523A PubMed: Zhang 2018 Unsolved case: biallelic causative mutations not identify - - - white - - - - ? polydactyly 1 1 LOVD
00453796 BAV166 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - CHD - 1 1 Johan den Dunnen
00460964 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
00469723 349716 - - F likely India - - - - - NTD Neurodevelopmental delay, Atrioventricular canal defect, Broad thumb, Deviation of finger, Polysyndactyly of hallux, Pectus carinatum, Genu valgum, Valvular pulmonary stenosis, Patent ductus arteriosus, Poor speech 1 1 Andreas Laner
00469737 Pat1 PubMed: Seo 2011 2-generation family, 1 affected, unaffected non-carrier parents - - Italy - - - - - NTD see paper; ..., birth-31wg, myelomeningocele at L5-S2 level, Chiari II malformation, hydrocephalus 1 1 Johan den Dunnen
00469738 Pat2 PubMed: Seo 2011 - - - Italy - - - - - NTD see paper; ..., caudal regression syndrome 1 1 Johan den Dunnen
00469739 Pat3 PubMed: Seo 2011 - - - Italy - - - - - NTD see paper; ..., myelomeningocele 1 2 Johan den Dunnen
00469740 Pat4 PubMed: Seo 2011 2-generation family, 1 affected, unaffected carrier father F yes Italy Sicily - - - - NTD see paper; ..., lumbo-sacral myelomeningocele, Chiari II malformation, hydrocephalus 1 1 Johan den Dunnen
00469741 Pat5 PubMed: Seo 2011 - M - Italy white - - - - NTD see paper; ..., ulcerated lumbar hemimyelomeningocele, diastematomyelia, triventricular hydrocephalus, Chiari II malformation, moderate transmissive deafness 1 1 Johan den Dunnen
00469742 - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - NTD - 1 11 Johan den Dunnen
00469743 - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - NTD - 1 1 Johan den Dunnen
00469744 - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - NTD - 1 1 Johan den Dunnen
00469745 - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - NTD - 1 23 Johan den Dunnen
00469746 - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - NTD - 1 1 Johan den Dunnen
00469747 - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - NTD - 1 1 Johan den Dunnen
00469748 - PubMed: Seo 2011 analysis 234 NTD cases - - Italy - - - - - NTD - 1 3 Johan den Dunnen
00469749 Fam1Pat1 PubMed: Singh 2024 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes India - - - - - ? see paper; ..., skeletal dysplasia; birth weight 2.8 kg (-1.19 SD); congenital heart defect; normal development, normal speech; 2y9m-height 94 cm (+0.37 SD), weight 10.5 kg (-2.24 SD) OFC 46 cm (-1.51 SD); no midline facial cleft, prominent forehead, medial flaring of the eyebrow, low set ears, prominent antihelix, no cleft lip, broad nasal bridge, no short ribs, short and broad thumbs, clinodactyly 5th fingers, polydactyly, preaxial polysyndactyly foot, postaxial polysyndactyly foot; no thickened nuchal fold, atrioventricular canal/septal defect, no hypoplastic left ventricle 1 2 Johan den Dunnen
00469750 FamPat2;? PubMed: Singh 2024, PubMed: Jacob 2025 2-generation family, affected fetus, unaffected heterozygous carrier parents - no India - <00y00m00d - - - ? see paper; ..., 19wg-pregnancy terminated, atrioventricular septal defect, polydactyly, right cleft lip, polydactyly (seven digits in both hands and feet), bilateral duplicated hallux 2 1 Johan den Dunnen
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