Global Variome shared LOVD

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Phenotype #0000173476 Individual ID 00230992 Associated disease XP Diagnosis/Initial xeroderma pigmentosum, group G Diagnosis/Definite XPG Phenotype details The patient, a 22-year-old female, was first observed to be sun sensitive when she was a newborn. She had diffuse erythema and desquamation after short sun exposure, and it recurred after varying degrees of sun exposure. She presented mild erythema and desquamation on the face, mainly on the forehead, malar region and nasal dorsum. Additionally, she had tiny vesicles on her lower lip. In addition, there were multiple solar lentigines on sun-exposed areas of the body, including the face, neck, shoulders, and upper back. She also reported having photophobia with redness and watering of the eyes during sun exposure. Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 22y 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 20:33:35 +01:00 (CET) Date last edited 2012-12-07 16:47:30 +01:00 (CET)

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