Disease #03553 (MVA2 (mosaic variegated aneuploidy syndrome, type 2 (MVA2)), OMIM:614114)

Official abbreviation MVA2
Name mosaic variegated aneuploidy syndrome, type 2 (MVA2)
OMIM ID 614114
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene CEP57
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00106626 - PubMed: Snape 2011, PubMed: Newman 2003, PubMed: Hanks2004 male child of first-cousins (consanguineous parents) - - United Kingdom (Great Britain) white 00y00m21d 0 - - MVA2 see paper; ..., mosaic variegated aneuploidy syndrome CEP57 CEP57 1 1 Johan den Dunnen
00106627 Pat663_1 PubMed: Garcia-Castillo 2008, PubMed: Snape 2011 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parentsbrother of patient 663_2 M - Mexico - - 0 - - MVA2 see paper; ..., mosaic variegated aneuploidy syndrome CEP57 CEP57 2 2 Johan den Dunnen
00106628 Pat663_2 PubMed: Snape 2011 sister of patient 663_1 F - Mexico - - 0 - - MVA2 see paper; ..., mosaic variegated aneuploidy syndrome CEP57 CEP57 2 1 Johan den Dunnen
00106629 Pat657 PubMed: Snape 2011, PubMed: Lane 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - white - 0 - - MVA2 see paper; ..., mosaic variegated aneuploidy syndrome CEP57 CEP57 1 1 Johan den Dunnen
Legend   How to query