Phenotype #0000093262

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00117874
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	MRDA syndrome; IQ59, sensineural hearing loss >50dB, conductive hearing loss, stapes fixation, arthrosis/joint pain, teeth anomalies, short stature, hypophosphatemia
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Jirko Kühnisch
Database submission license	No license selected
Created by	Jirko Kühnisch
Date created	2012-02-03 15:51:30 +01:00 (CET)
Date last edited	2012-02-03 15:53:36 +01:00 (CET)

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