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Human Disease

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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models