Disease #00160

Official abbreviation TSC2
Name Tuberous sclerosis-2
OMIM ID 613254
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene TSC2
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
Legend  

AscendingIndividual ID     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00021989 - M - - Greek no - NDL, RenLes, TSC2 - - APC, ATM, BLM, BRIP1, DICER1, DIS3L2, FANCM, KIT, MSH6, PTCH1, PTEN, SLX4, TSC2 13 1 Despoina Kalfakakou
Legend