Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SLC1A4)

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive disorder caused by pathogenic variants in the gene SLC1A4. The onset of this condition occurs shortly after birth with hypotonia and developmental delay. The severity of symptoms varies. Most individuals experience progressive postnatal microcephaly, seizures, reduced or absent development of language and speech, and intellectual disability. Some individuals are able to walk with assistance, while others are not. Brain imaging may identify findings such as a thin corpus callosum, delayed myelination, and cerebral atrophy. Life expectancy may be reduced depending on the severity of symptoms. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):