- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563612)
- Abnormal skull morphology (HP:0000929): An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563612)
- 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:563612)
- 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:563612)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563612)
- Abnormal calvaria morphology (HP:0002683): Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563612)
- Hypoplasia of the frontal bone (HP:0005466): Underdevelopment of the frontal bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563612)
- Aplasia/Hypoplasia of the cerebellum (HP:0007360). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:563612)
- 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:563612)
- 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:563612)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:563612)
- Maternal diabetes (HP:0009800): Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:563612)
- Anterior pituitary hypoplasia (HP:0010627): Underdevelopment of the anterior pituitary gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:563612)
- Posterior pituitary agenesis (HP:0011756): Absence of the neurohypophysis owing to a developmental defect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:563612)
- Abnormal facial skeleton morphology (HP:0011821): An abnormality of one or more of the set of bones that make up the facial skeleton. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:563612)
- Maternal fever in pregnancy (HP:0030244): The occurrence of an elevated body temperature of the mother during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:563612)
These phenotypes are associated with the disease Isolated exencephaly (ORPHA:563612).