Phenotype #0000180482

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00240470
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	DD/ID, Seizures, Dysmorphic features, Deafness, Ophthalmological anomalies, Hand and feet anomalies, Brain MRI or CT anomalies, Elevated serum alkaline phosphatase
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2019-06-20 23:23:11 +02:00 (CEST)
Date last edited	N/A

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