Phenotype #0000164960

Individual ID 00216508
Associated disease HGPS
Phenotype details unusually severe progeria (details see paper)
Diagnosis/Initial Hutchinson-Gilford progeria syndrome
Inheritance Unknown
Diagnosis/Definite HGPS
Age/Examination -
Age/Diagnosis -
Age/Onset 0y
Phenotype/Onset -
Protein ratio progerin:LMNA 2.8 (0.9 for c.1824C>T)
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen