Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Synonyms: ASCT1 deficiency | Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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