Phenotype #0000352968

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466474
Associated disease	NEDHYBA
Diagnosis/Initial	hypotonia, global develoment delay
Diagnosis/Definite	NEDHYBA
Phenotype details	dysmorphic facial features nonspecific, macrocephaly, hypotonia, global develoment delay; cerebral MRI not performed
Inheritance	Isolated (sporadic)
Age/Examination	01y (1 year)
Age/Diagnosis	03y
Age/Onset	00y00m00d
Phenotype/Onset	congenital
Owner name	Maria Elena García Paya
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-31 14:48:52 +01:00 (CET)
Date last edited	N/A

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