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GTR Home > Conditions/Phenotypes > Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Synonyms
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ASCT1, SATT, SPATCCM, SLC1A4
    Summary: solute carrier family 1 member 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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