Phenotypes associated with the disease Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (ORPHA:65288):
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:65288)
- Short chin (HP:0000331): Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:65288)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:65288)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:65288)
- Neonatal insulin-dependent diabetes mellitus (HP:0000857). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:65288)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:65288)
- Aplasia/Hypoplasia of the pancreas (HP:0100800): A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:65288)