Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Definition:
References:
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[1]. G Heimer, et al. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. Clin Genet. 2015 Oct;88(4):327-35. [Content Brief]
[2]. Nadirah Damseh, et al. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. J Med Genet. 2015 Aug;52(8):541-7. [Content Brief]
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