spastic tetraplegia, thin corpus callosum, and progressive microcephaly

Term ID

DOID:0070537

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. (2)

References

• GARD:13425
• MIM:616657
• ORDO:447997
• UMLS_CUI:C4225254

Ontology

Human Disease   ( DOID:0070537 )