All individuals with variants in gene FAM20A

30 entries on 1 page. Showing entries 1 - 30.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00107849 - PubMed: Cho 2012 - F - Korea - - - - - AI1G Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth; 1 1 JUNG-WOOK KIM
00107850 - PubMed: Cho 2012 - F - Korea - - - - - AI1G Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth; 2 1 JUNG-WOOK KIM
00107851 - PubMed: Cho 2012 - M - Korea - - - - - AI1G Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth; 1 1 JUNG-WOOK KIM
00107852 - PubMed: Cho 2012 - M - Korea - - - - - AI1G Amelogenesis imperfecta; Autosomal recessive hypoplastic amelogenesis imperfecta; Gingival hyperplasia; Pulp stones; Prolonged retention of the deciduous teeth; Delayed or failed eruption of permanent teeth; 1 1 JUNG-WOOK KIM
00264122 FamPatII1 PubMed: O'Sullivan 2011 3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F yes Brazil - - - - - AI see paper; …, amelogenesis imperfecta, gingival fibromatosis 1 4 Johan den Dunnen
00264123 FamPatII2 PubMed: O'Sullivan 2011 - F yes Brazil - - - - - AI see paper; …, amelogenesis imperfecta, gingival fibromatosis 1 1 Johan den Dunnen
00264124 FamPatII3 PubMed: O'Sullivan 2011 - M yes Brazil - - - - - AI see paper; …, amelogenesis imperfecta, gingival fibromatosis 1 1 Johan den Dunnen
00264125 FamPatII7 PubMed: O'Sullivan 2011 - F yes Brazil - - - - - AI see paper; …, amelogenesis imperfecta, gingival fibromatosis, mental retardation 1 1 Johan den Dunnen
00264126 Fam1 PubMed: Wang 2013 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M - - Caribbean - - - - AI see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis 1 3 Johan den Dunnen
00264127 Fam2 PubMed: Wang 2013 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes - Jordan - - - - AI see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis 2 1 Johan den Dunnen
00264128 Fam3 PubMed: Wang 2013 3-generation family, 2 affected cousins, unaffected heterozygous carrier parents/relatives F;M no - Iran - - - - AI see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis 1 2 Johan den Dunnen
00264132 Fam1 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents M - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 1 1 Johan den Dunnen
00264133 Fam2 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 2 2 Johan den Dunnen
00264134 Fam3 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 2 2 Johan den Dunnen
00264135 Fam4 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 1 2 Johan den Dunnen
00264136 Fam5 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 1 1 Johan den Dunnen
00264137 Fam6 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents M - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 1 1 Johan den Dunnen
00264138 Fam7 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 1 2 Johan den Dunnen
00264139 Fam8 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents M - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 1 1 Johan den Dunnen
00264140 Fam9 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 1 1 Johan den Dunnen
00264141 Fam10 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 2 1 Johan den Dunnen
00264142 Fam11 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 2 2 Johan den Dunnen
00264143 Fam12 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 1 1 Johan den Dunnen
00264144 Fam13 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (F, M), unaffected parents F;M - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 2 2 Johan den Dunnen
00264145 Fam14 PubMed: Jaureguiberry 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 1 1 Johan den Dunnen
00264146 Fam15 PubMed: Jaureguiberry 2012 2-generation family, 3 affected (F, 2M), unaffected parents F;M - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 1 3 Johan den Dunnen
00264147 Fam16 PubMed: Jaureguiberry 2012 2-generation family, 2 affected (2F), unaffected parents F - - - - - - - AI nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) 2 2 Johan den Dunnen
00385895 V2.06 PubMed: Prasad 2016 - F - - - - - - - AI enamel renal syndrome, amelogenesis imperfecta 1 1 Johan den Dunnen
00385923 V2.32 PubMed: Prasad 2016 - F - - - - - - - AI amelogenesis imperfecta hypomineralised, hypoplastic 2 1 Johan den Dunnen
00435221 - - - - - - - - - - - AI1G Amelogenesis imperfecta, Delayed permanent dentition 1 1 Gemeinschaftspraxis für Humangenetik Dresden
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.