Disease #00527 (MNKES (Muenke syndrome (MNKES)), OMIM:602849)

Official abbreviation MNKES
Name Muenke syndrome (MNKES)
OMIM ID 602849
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene FGFR3
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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     
00019780 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - MNKES - FGFR2, FGFR3 FGFR2, FGFR3 2 1 Karen E. Heath
00019796 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - MNKES - FGFR3 FGFR3 1 1 Karen E. Heath
Legend   How to query