Phenotype #0000337384

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00448170
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRT51
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., height 151cm (−2 SD), weight 44kg (+0.2 SD), OFC 52cm (−1.7 SD); severe intellectual disability (IQ20–34)
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-22 16:11:47 +01:00 (CET)
Date last edited	N/A

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