Phenotype #0000352221

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466857
Associated disease	EE
Phenotype details	Intellectual disability (HP:0010864), Muscular hypotonia (HP:0001252), facial dysmorphism (HP:0001999), and , delayed global milestones(HP:0001263), seizures
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	EE (OMIM#602473)
Age/Examination	08y (8 years)
Age/Diagnosis	09y
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 21:11:40 +02:00 (CEST)
Date last edited	2025-09-26 11:11:54 +02:00 (CEST)

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