Global Variome shared LOVD

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

Phenotype #0000083736 Individual ID 00105833 Associated disease DKCX;HHS Phenotype details aplastic anaemia, immunodeficiency, cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name SIB - Livia Famiglietti Database submission license No license selected Created by SIB - Livia Famiglietti Date created 2012-03-01 16:08:42 +01:00 (CET) Date last edited 2018-01-04 16:46:18 +01:00 (CET)

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