Phenotype #0000034748

Individual ID 00047861
Associated disease MINAS
Phenotype details rectal carcinoma and multiple colon polyps 14y; Jejunal adenocarcinoma x6 28y x3, 34y, 44y, 52y (Loss of MLH1 and PMS2 on IHC); Duodenal adenocarcinoma 54y; Congenital hypertrophy of retinal pigment epithelium 54y; Squamous cell carcinoma. Multiple facial; Pilomatricoma. Scalp 54y; Sebaceous adenoma 54y (Loss of MLH1 and PMS2 on IHC)
Diagnosis/Initial neoplasia, multiple inherited alleles (MINAS)
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-09-04 15:54:51 +02:00 (CEST)
Date last edited 2019-07-18 10:25:33 +02:00 (CEST)

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