Disease #01420 (BRRS (Bannayan-Riley-Ruvalcaba syndrome (BRRS)), OMIM:153480)

Official abbreviation BRRS
Name Bannayan-Riley-Ruvalcaba syndrome (BRRS)
OMIM ID 153480
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 6
Associated with 1 gene PTEN
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2016-02-15 23:25:54 +01:00 (CET)


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00050024 309-1 PubMed: Zhou 2001, Journal: Zhou 2001 - F - (United States) European - - - - BRRS - BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00059036 - PubMed: Marsh 1997 family ? ? United States - - - - - BRRS macrocephaly (HP:0000256), no thyroid goiter (-HP:0000853), lipomas (HP:0001012), hemangiomas, leiomyomas, speckled penis, no breast abnormality PTEN PTEN 1 1 Johan den Dunnen
00059037 - PubMed: Marsh 1997 family, several affected ? - United States - - - - - BRRS macrocephaly (HP:0000256), Hashimoto's thyroiditis (HP:0000872), lipomas (HP:0001012), speckled penis, no breast abnormality PTEN PTEN 1 1 Johan den Dunnen
00218598 09352843-Pat1 PubMed: Zigman 1997 - M - (United States) (American) - - - - BRRS BRRS BMPR1A BMPR1A 4 1 Karl Heinimann
00218601 patient 1 Journal: Dadaleh 2012 - F - (France) (European) - - - - BRRS BRRS BMPR1A BMPR1A 1 1 Karl Heinimann
00435236 - - - - - France - - - - - BRRS - - PTEN 1 1 Svetlana Gorokhova
00435354 199447 - - M no Germany - - - - - BRRS Macrocephaly, Autistic behavior, Delayed speech and language development, Developmental regression, Poor speech, Neurodevelopmental delay PTEN PTEN 1 1 Andreas Laner
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