Global Variome shared LOVD

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Phenotype #0000173477 Individual ID 00230993 Associated disease XP Diagnosis/Initial xeroderma pigmentosum, group G Diagnosis/Definite XPG Phenotype details The patient, a 17-year-old male, presented with slight erythema and desquamation on the face, especially on the nasal dorsum. There were also multiple solar lentigines on his central face and a few lentigines on the upper trunk. He first exhibited sun sensitivity as a newborn with the same clinical manifestations as his sister and also reported episodes of photophobia. Neither sibling had a history of skin cancer or skin cancer precursors. They never had lesions surgically removed. Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 17y Phenotype/Onset - Owner name Tiago de Souza Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-12-03 20:40:35 +01:00 (CET) Date last edited 2012-12-07 16:49:56 +01:00 (CET)

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