Phenotype #0000352217

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466855
Associated disease	NDD
Diagnosis/Initial	NDD
Diagnosis/Definite	NEDHMS (OMIM #619639)
Phenotype details	Intellectual disability (HP:0010864), Muscular hypotonia (HP:0001252), facial dysmorphism (HP:0001999), and , delayed global milestones(HP:0001263), aggression
Inheritance	Familial, autosomal recessive
Age/Examination	17y (17 years)
Age/Diagnosis	18y
Age/Onset	00y06m
Phenotype/Onset	-
Owner name	Arisha Rasheed
Database submission license	No license selected
Created by	Arisha Rasheed
Date created	2025-09-24 20:21:02 +02:00 (CEST)
Date last edited	2025-09-26 11:14:04 +02:00 (CEST)

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