Patients with the TFE3-associated neurodevelopmental syndrome usually have a characteristic triad. Hypopigmentation on Blaschko’s lines that are usually noticed at birth, moderate to severe intellectual disability, and lysosomal storage-like features including progressive coarsening of facial features.
Many patients have been noted to have other medical problems including neonatal hypoglycemia, hypotonia, developmental regression, seizures, hearing loss, frequent ear infections, autism, strabismus, hand stereotypes, umbilical hernia, obesity, and skeletal problems affecting hips, spine, and lower limbs. Imaging evaluation in some patients has shown organomegaly, cholelithiasis, and brain anomalies.
TFE3