Phenotype #0000025703

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00029692
Associated disease	MRT
Phenotype details	see paper; ID moderate (2x)/severe (5x), all illiterate, never attended regular school; facial dysmorphism tall forehead, prognatism, prominent chin, very large/ overhanging nose
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-01-27 22:49:18 +01:00 (CET)
Date last edited	2015-01-27 23:00:50 +01:00 (CET)

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