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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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