Phenotype #0000155271

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00207494
Associated disease	HPMRS3;GPIBD8
Phenotype details	Developmental delay, Mild mental retardation, Speech difficulties, Enuresis, Elevated alkaline phosphatase (1318 IU/L). No organ anomaly, No signs of dysmorphism, Normal cranial, motor, sensory, gait, and cerebellar exam, normal spine MRI.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	HPMRS3
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2018-11-23 16:34:04 +01:00 (CET)
Date last edited	N/A

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