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Metadata
ID	DOID:0070537
Name	spastic tetraplegia, thin corpus callosum, and progressive microcephaly
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. https://pubmed.ncbi.nlm.nih.gov/25930971/, https://pubmed.ncbi.nlm.nih.gov/26138499/
Xrefs	GARD:13425 MIM:616657 ORDO:447997 UMLS_CUI:C4225254
Subsets	DO_rare_slim
Synonyms	SPATCCM [EXACT]
Parent Relationships	is_a autosomal recessive intellectual developmental disorder