Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder caused by mutations in the ROBO1 gene, characterized by kidney and genitourinary abnormalities, including unilateral or bilateral renal agenesis, vesicoureteral junction obstruction, vesicoureteral reflux, posterior urethral valve, genital malformations, and increased renal echogenicity. Additional clinical features are highly variable and may include neurodevelopmental disorders, intellectual disability, brain malformations, ocular anomalies, and cardiac defects.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02981 Neurooculorenal syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06546 IgSF CAM signaling
H02981 Neurooculorenal syndrome
