Condition: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
rs201278558 in
LINC02245;LOC107984063;SLC1A4 gene and
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
PMID 26041762 2015 Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
PMID 26138499 2015 SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
PMID 25930971 2015 A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
rs761533681 in
LINC02245;SLC1A4;LOC107984063 gene and
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
PMID 26041762 2015 Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
PMID 25930971 2015 A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
PMID 26138499 2015 SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.