Global Variome shared LOVD

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

Phenotype #0000352220 Individual ID 00466856 Associated disease EE Phenotype details intellectual disability (HP:0010864), Muscular hypotonia (HP:0001252), facial dysmorphism (HP:0001999), and , delayed global milestones(HP:0001263), aggression Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite EE (OMIM#602473) Age/Examination 17y (17 years) Age/Diagnosis 18y Age/Onset 00y06m Phenotype/Onset - Protein - Owner name Arisha Rasheed Database submission license No license selected Created by Arisha Rasheed Date created 2025-09-24 20:53:49 +02:00 (CEST) Date last edited 2025-09-26 11:08:59 +02:00 (CEST)

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