Phenotypes associated with the disease Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955):
- Neonatal insulin-dependent diabetes mellitus (HP:0000857). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:556955)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:556955)
- Holoprosencephaly (HP:0001360): Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:556955)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:556955)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:556955)
- Absent gallbladder (HP:0011467): A developmental defect in which the gallbladder fails to form. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:556955)
- Abnormal brain morphology (HP:0012443): A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:556955)
- Decreased circulating C-peptide concentration (HP:0030795): The concentration of C-peptide in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:556955)
- Decreased circulating lipoprotein lipase concentration (HP:0031209): Reduction in the level of lipoprotein lipase in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:556955)
- Pancreatic aplasia (HP:0100801): Aplasia of the pancreas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:556955)
- Hypoamylasemia (HP:0410289): The concentration of amylase in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:556955)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:556955)
- Prominent occiput (HP:0000269): Increased convexity of the occiput (posterior part of the skull). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:556955)
- Sloping forehead (HP:0000340): Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:556955)
- 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: Occasional (HP:0040283). (ORPHA:556955)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:556955)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:556955)
- Semilobar holoprosencephaly (HP:0002507): A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:556955)
- Solitary median maxillary central incisor (HP:0006315): A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:556955)
- Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:556955)
- Hypoplasia of the zygomatic bone (HP:0010669): Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:556955)
- Abnormal external nose morphology (HP:0010938): An abnormality of the external nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:556955)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:556955)