Phenotype #0000321891

Individual ID	00431291
Associated disease	NPHS
Phenotype details	no proteinuria; 2y6m-died; primary microcephaly, seizures; MRI cranial lissencephaly, hypogenesis of corpus callosum; large, floppy ears, unusual fat distribution skeletal: congenital hip dislocation; poor wound healing, mild direct hyperbilirubinemia, elevated ast/ast and alp; no nephrotic syndrome
Diagnosis/Initial	nephrotic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GAMOS3
Age/Examination	2y6m (2 years, 6 months)
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

Global Variome shared LOVD