Phenotype #0000340309

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451648
Associated disease	CTNS
Phenotype details	Mild intellectual disability, cerebral stroke, seizures, renal failure (Unilateral renal transplant). Co-occurrence with Alport syndrome 1
Diagnosis/Initial	Cystinosis
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Cystinosis, nephropathic
Age/Examination	-
Age/Diagnosis	10y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-06-20 21:07:28 +02:00 (CEST)
Date last edited	2024-06-28 10:31:52 +02:00 (CEST)

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