Global Variome shared LOVD

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Phenotype #0000068444 Individual ID 00089055 Associated disease PN Phenotype details generalized poikiloderma, which appeared in the first days of life, neutropenia, photosensitivity, dental dysplasia and nail dystrophy; no history of recurrent infections was reported; birth parameters were normal; no growth delay, no intellectual disability Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Elisa Adele Colombo Database submission license No license selected Created by Elisa Adele Colombo Date created 2016-11-28 16:24:15 +01:00 (CET) Date last edited 2016-11-28 16:54:40 +01:00 (CET)

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