Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000044570 Individual ID 00057920 Associated disease PN Phenotype details Widespread poikiloderma, neutropenia, sun intolerance, erithema, saddle nose, maxillary hypoplasia, micrognathia, zygodactylya, osteopenia, recurrent leg ulcelrs with severe sepsis, low stature, hypogonadism. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 22y Age/Onset 00y06m Phenotype/Onset - Protein - Owner name Ludovica Volpi Database submission license No license selected Created by Ludovica Volpi Date created 2011-09-26 17:53:05 +02:00 (CEST) Date last edited 2016-02-23 16:36:17 +01:00 (CET)

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