Phenotype #0000164684

Individual ID 00216232
Associated disease HGPS
Phenotype details one patient's lymphocyte RNA analysed contained transcripts from the mutated allele only
Diagnosis/Initial Hutchinson-Gilford progeria syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite HGPS
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein WB 25% normal lamin-A
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen