Phenotype #0000321882

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00431282
Associated disease	NPHS
Phenotype details	3m-proteinuria, 11m-end stage renal disease; primary microcephaly, seizures, myoclonus, developmental delay; MRI cranial lissencephaly; narrow forehead, large, low-set ears, small mouth, micrognathia skeletal: short stature; hiatal hernia
Diagnosis/Initial	nephrotic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GAMOS3
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-02-06 20:38:44 +01:00 (CET)
Date last edited	N/A

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