Dentici-Novelli neurodevelopmental syndrome is a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. It has been reported that mutations in ZNF526 cause this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02659 Dentici-Novelli neurodevelopmental syndrome
Dentici ML, Alesi V, Quinodoz M, Robens B, Guerin A, Lebon S, Poduri A, Travaglini L, Graziola F, Afenjar A, Keren B, Licursi V, Capuano A, Dallapiccola B, Superti-Furga A, Novelli A
Title
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
