Term Name: spastic tetraplegia, thin corpus callosum, and progressive microcephaly
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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder