Term Name: Pierson syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome