Phenotype #0000343443

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00454833
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	COXPD6
Phenotype details	see paper; ..., hypotonia, respiratory insufficiency; MRI brain intraventricular hemorrhage, delayed myelination; sister global developmental delay, epilepsy, tetraparesis, (suggestive of skewed X-inactivation)
Inheritance	Familial, X-linked recessive
Age/Examination	1d
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-28 10:13:26 +02:00 (CEST)
Date last edited	N/A

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