Term Name: | spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
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Synonyms: | SPATCCM |
Definition: | An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. |
Ontology: | Human Disease [DOID:0070537] ( DOID:0070537 ) |