Phenotype #0000352929

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467776
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	COXPD14
Phenotype details	syndromic BM, normal corpus callosum, cortical dysgenesis, microcephaly, no hindbrain malformation, no white matter abnormalities, no syndromic developmental delay/intellectual disability
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-30 10:25:01 +01:00 (CET)
Date last edited	N/A

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