- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306741)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306741)
- Abnormal periventricular white matter morphology (HP:0002518): A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306741)
- Abnormal basal ganglia MRI signal intensity (HP:0012751): A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:306741)
- Abnormal delivery (HP:0001787): An abnormality of the birth process. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306741)
- Limb dystonia (HP:0002451): A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306741)
- Hemiatrophy (HP:0100556): Undergrowth of the limbs that affects only one side. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:306741)
- Abnormal paranasal sinus morphology (HP:0000245): Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306741)
- Dense calvaria (HP:0000250): An abnormal increase of density of the bones making up the calvaria. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306741)
- 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: Occasional (HP:0040283). (ORPHA:306741)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306741)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306741)
- Advanced pneumatization of cranial sinuses (HP:0010540): A degree of pneumatization that is increased compared to age-related norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:306741)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:306741)
- Rhizomelic leg shortening (HP:0012106): Disproportionate shortening of the proximal segment of the leg (i.e. the femur). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:306741)
These phenotypes are associated with the disease Hemidystonia-hemiatrophy syndrome (ORPHA:306741).