- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
- Meningocele (HP:0002435): Protrusion of the meninges through a defect of the skull or vertebral column. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
- Absent nasal septal cartilage (HP:0005273): Lack of the cartilage of the nasal septum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
- Severe sensorineural hearing impairment (HP:0008625): A severe form of sensorineural hearing impairment. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
- Tooth agenesis (HP:0009804): The absence of one or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
- Sacral lipoma (HP:0012033): Presence of a lipoma in the region of the sacrum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
- Non-midline cleft of the upper lip (HP:0100335): Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2003)
These phenotypes are associated with the disease Cleft lip/palate-deafness-sacral lipoma syndrome (ORPHA:2003).