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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
Reference
OMIM: Oculogastrointestinal neurodevelopmental syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD03186 | O75808 | 6650 | CAPN15 | Calpain-15 | Homo sapiens |
