Phenotype #0000257614

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00362200
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRT47
Inheritance	Familial, autosomal recessive
Phenotype details	intellectual disability; OFC 51.7 cm; speech full sentences; normal hearing; daily activities independent (eating, toilet); no dysmorphic face; no hypotonia; no microcephaly; no seizures; no spasticity; no visual abnormalities
Age/Examination	30y (30 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-16 09:35:35 +02:00 (CEST)
Date last edited	N/A

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