Phenotype #0000239693

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00315948
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	sensorineural hearing loss; 15y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 6,641U/l; failure to thrive
Inheritance	Familial, autosomal recessive
Age/Examination	22y (22 years)
Age/Diagnosis	21y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-30 18:31:12 +01:00 (CET)
Date last edited	N/A

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