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Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Disease definition

A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.

ORPHA:447997

Classification level: Disorder
  • Synonym(s):
    • ASCT1 deficiency
    • Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q02
  • OMIM: 616657
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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