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Browse result for Oculogastrointestinal neurodevelopmental syndrome

※ introduction

    Oculogastrointestinal neurodevelopmental syndrome (OGIN) is characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, and structural cardiac defects. Hearing loss and severe developmental delay are also observed in most patients (Zha et al., 2020; Mor-Shaked et al., 2021).

Reference
OMIM: Oculogastrointestinal neurodevelopmental syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03186O758086650
CAPN15
Calpain-15
Homo sapiens