Autosomal recessive neurodevelopmental disorde defined by a characteristic brain malformation visible as the “molar tooth sign” (MTS) on axial MRI
  • Core Clinical Features:
    • Infantile hypotonia
    • Abnormal eye movements
    • Respiratory disturbances
    • Ataxia and/or cognitive impairment in childhood or adulthood
  • Multisystem Involvement:
    • Ocular abnormalities
    • Renal anomalies
    • Hepatic fibrosis or dysfunction
    • Skeletal malformations
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