Phenotype #0000352811

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467600
Associated disease	ALAZS
Phenotype details	see paper; ..., weight 18kg (-3.6 SD), height 113cm (-4.4 SD); broad nose; short philtrum; triangular face; intellectual disability; early developmental delay; spina bifida occulta; collecting system anomaly; undescended testis
Diagnosis/Initial	hyperoxaluria
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	HP1
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-23 09:44:12 +02:00 (CEST)
Date last edited	N/A

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