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.