Global Variome shared LOVD

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

Phenotype #0000090361 Individual ID 00114904 Associated disease DEE2 Inheritance Unknown Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details severe mental retardation, microcephaly, diffuse hypotonia, hyperreflexia, no language, numerous refractory seizures, stereotypical movement hands; 5y-precocious puberty; EIEE2 Protein - Owner name Emmelien Aten Database submission license No license selected Created by Emmelien Aten Date created 2010-10-24 14:36:15 +02:00 (CEST) Date last edited N/A

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