SLC45A1

Clinical Characteristics

Patients reported with SLC45A1-related disorder have: (not consistent in all patients)

  • Intellectual disability ranging from moderate to severe.
  • Global developmental delay.
  • Variable neuropsychiatric features which include autistic traits, obsessive compulsive disorder traits and anxiety.
  • Epilepsy manifested as focal with impaired awareness and sometimes with secondary generalization. Epilepsy was of childhood onset in two siblings and infantile onset in one unrelated patient.
  • Facial dysmorphic features described as down slanting eyes, smooth philtrum, thin upper lip, triangular face, widely spaced eyes and depressed nasal bridge.
  • Congenital heart disease such as patent ductus arteriosus (PDA) and coarctation of aorta.
  • Single renal dysgenesis and nephrocalcinosis reported in two siblings.
  • Dandy-walker malformation reported in one patient only who has no affected siblings.
  • Squint in one patient.
  • CSF glucose level and CSF: blood glucose level studied in one patient and was normal.