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GTR Home > Conditions/Phenotypes > Spastic paraplegia-severe developmental delay-epilepsy syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

Synonyms
Spastic paraplegia and psychomotor retardation with or without seizures
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spastic paraplegia and psychomotor retardation with or without seizures is an autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. Most develop seizures in childhood and have speech delay. Other features, such as ocular abnormalities, foot deformities, hypoplasia of the corpus callosum, and decreased white matter, are more variable (summary by Hollstein et al., 2015). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SPPRS, HACE1
    Summary: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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