Term Name: | Pierson syndrome |
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Synonyms: | microcoria-congenital nephrosis syndrome |
Definition: | A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. |
Ontology: | Human Disease [DOID:0060852] ( DOID:0060852 ) |