Synonym(s): - Pancreatic and cerebellar agenesis
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): (no data available)
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
PTF1A	Q7RTS3	607194

- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Insulin-independent / type 2 diabetes
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Triangular face

- Structural anomalies of the pancreas