Phenotype #0000164686

Individual ID 00216234
Associated disease HGPS
Phenotype details mild; extraordinarily long-lived (>45y); 0d-normal: 1y-large head; 12y-growth; retardation; childhood loosing hair, 20y-total alopecia; 44y-height 132 cm, weight 24.5 kg, all characteristic; features HGPS; 45y-died myocardial infarction
Diagnosis/Initial Hutchinson-Gilford progeria syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite HGPS
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen