Disease #04183

Official abbreviation -
Name progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome)
OMIM ID 264090
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 0 genes -
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Individuals

15 entries on 1 page. Showing entries 1 - 15.
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00029676 26436111-Pat PubMed: Ganetzky 2015 2 affected homozygous siblings, unaffected carrier parents M yes ? (unknown) Romani 00y01m 0 yes - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) classified as neonatal progeria syndrome EGFR EGFR 1 2 Rebecca Ganetzky
00183370 - - - F - - - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) acroosteolysis lipodystrophy WEE1 PDGFRB 1 1 Gunnar Houge
00207533 24691054-Pat PubMed: Campbell 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Poland gypsy Roma - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; ... EGFR EGFR 1 1 Johan den Dunnen
00207537 28447407-FamWRS001 PubMed: Paolacci 2017 - F - - white - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 2 1 Johan den Dunnen
00207538 30323018-FamWRS002 PubMed: Paolacci 2017 onsanguineous parents (fourth degree cousins) F yes Brazil - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 3 1 Johan den Dunnen
00207539 30323018-FamWRS003 PubMed: Paolacci 2018 - - - Germany - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 3 1 Johan den Dunnen
00207540 30323018-FamWRS004 PubMed: Paolacci 2018 - - - - - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 3 1 Johan den Dunnen
00207541 30323018-FamWRS005 PubMed: Paolacci 2018 - - - - - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 3 2 Johan den Dunnen
00207542 30323018-FamWRS006 PubMed: Paolacci 2018 - - - - - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 1 1 Johan den Dunnen
00207543 30323018-FamWRS007 PubMed: Paolacci 2018 - - - - - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 1 1 Johan den Dunnen
00207544 30323018-FamWRS008 PubMed: Paolacci 2018 - - - - - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 2 1 Johan den Dunnen
00207545 30323018-FamWRS009 PubMed: Paolacci 2018 - - - - - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 2 1 Johan den Dunnen
00207546 30323018-FamWRS010 PubMed: Paolacci 2018 - - - - - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 1 1 Johan den Dunnen
00207547 30323018-FamWRS011 PubMed: Paolacci 2018 - - - Colombia - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 1 1 Johan den Dunnen
00207548 30323018-FamWRS012 PubMed: Paolacci 2018 - - - - - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) see paper; … POLR3A POLR3A 2 1 Johan den Dunnen
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