- Abnormal mandible morphology (HP:0000277): Any abnormality of the mandible, the bone of the lower jaw. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1214)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1214)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1214)
- Irregular hyperpigmentation (HP:0007400). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1214)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1214)
- Abnormality of the musculature (HP:0003011): Abnormality originating in one or more muscles, i.e., of the set of muscles of body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1214)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1214)
- Asymmetric growth (HP:0100555): A growth pattern that displays an abnormal difference between the left and the right side. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1214)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1214)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1214)
- Heterochromia iridis (HP:0001100): Heterochromia iridis is a difference in the color of the iris in the two eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1214)
These phenotypes are associated with the disease Progressive hemifacial atrophy (ORPHA:1214).