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  2. Spastic tetraplegia, thin corpus callosum, and progressive microcephaly

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly

Definition:

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is an autosomal recessive neurodevelopmental disorder of childhood. Mutations in SLC1A4, encoding the brain serine transporter, are associated with this syndrome. L-serine plays an essential role in neuronal development and function.

Biomedical Dictionary

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