Phenotype #0000072399

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00094007
Associated disease	COXPD11
Phenotype details	developmental delay; autistic spectrum disorder; sensorineural hearing loss; febrile seizure; hypotonia; lactic acidosis; no renal abnormalities
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-12-31 17:35:05 +01:00 (CET)
Date last edited	N/A

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