SLC45A1

Clinical Characteristics

Patients described in the literature have the following clinical features:

  • Global developmental delay.
  • Intellectual disability.
  • Seizures which require medication.
  • Behavioural abnormalities such as autistic features, obsessive compulsive behaviour, tics and anxiety.
  • Congenital heart disease such as patent ductus arteriosus and coarctation of the aorta.
  • Renal anomalies such as dysgenesis of single kidney and renal stones.
  • A specific malformation of the cerebellum (called Dandy-Walker malformation) was noted in one individual. The cerebellum is part of the brain that is important for balance and coordination.
  • Specific facial features have been noted in affected individuals: down slanting eyes, thin lips, depressed nasal bridge and smooth philtrum (area connecting the nose septum to the upper lip), triangular-shaped face. One patient was noted to have a facial haemangioma (birth mark composed of vascular component with a pinkish-reddish colour).

Note that these features are not present in all affected individuals. All reported patients have developmental delay and intellectual disability, and 4/5 had epilepsy and neuropsychiatric features.