Phenotype #0000296462

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00403763
Associated disease	OCRL
Phenotype details	born at term; normal motor milestones; delayed speech and language; 3y-short stature, bilateral cataracts ; 5y-acute and chronic renal failure after 3w episode of vomiting, headaches, weight loss
Diagnosis/Initial	Lowe syndrome
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	OCRL
Age/Examination	05y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-21 19:20:00 +01:00 (CET)
Date last edited	N/A

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