Phenotype #0000082487

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00104572
Associated disease	MFDGA;MFDM
Diagnosis/Initial	-
Diagnosis/Definite	MFDGA
Phenotype details	intellectual disability, speech delay, growth retardation, epilepsy, hypotonia, shorter fifth digits on hands, facial dysmorphism
Inheritance	Isolated (sporadic)
Age/Examination	08y (8 years)
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	-
Birth_Details	-
Height-Weight-OFC	-
Protein	-
Owner name	Jana Paderova
Database submission license	No license selected
Created by	Jana Paderova
Date created	2017-05-16 17:29:14 +02:00 (CEST)
Date last edited	2025-03-08 16:45:03 +01:00 (CET)

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