Phenotype #0000332796

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00443454
Associated disease	?
Diagnosis/Initial	lissencephaly, megalencephaly
Diagnosis/Definite	MRT34
Phenotype details	see paper, ..., height 174.6 cm (-0.61SD), weight 78 kg (+0.59SD), OFC 58.3 cm (+2SD), mild megalencephaly; mild intellectual disability; no seizures
Inheritance	Familial, autosomal recessive
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-27 10:25:59 +01:00 (CET)
Date last edited	N/A

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