Oculogastrointestinal neurodevelopmental syndrome (OGIN) is a syndrome of congenital malformations and developmental delay caused by mutations in CAPN15. Clinical features include microcephaly, global developmental delay, dysmorphic features, endocrine abnormalities and congenital malformations, in addition to eye abnormalities. CAPN15 encodes a non-classical calpain. The Calpain family consists of intracellular calcium-dependent cysteine proteases with essential functions in various developmental processes.
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
H02747 Oculogastrointestinal neurodevelopmental syndrome
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
