Phenotype #0000239694

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00315949
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 336U/l; primary ovarian failure; no failure to thrive
Inheritance	Familial, autosomal recessive
Age/Examination	46y (46 years)
Age/Diagnosis	44y
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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