Phenotype #0000165300

Individual ID 00216848
Associated disease HGPS
Phenotype details mild progeria, with a very evocative facial dysmorphism, brittle nails, generalized lipoatrophy, ectopic calcifications, ; thin and transparent skin with highly visible veins and hypo/hyperpigmented areas; hepatic steatosis, disseminated arteriosclerosis and aortic stenosis
Diagnosis/Initial progeria-like syndrome
Inheritance Unknown
Diagnosis/Definite HGPS
Age/Examination -
Age/Diagnosis 14y
Age/Onset -
Phenotype/Onset -
Protein WB, IHC lamin A/C and progerin
Owner name Florian Barthelemy
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-07-11 19:50:46 +02:00 (CEST)
Date last edited 2014-07-18 17:34:37 +02:00 (CEST)

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