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GTR Home > Conditions/Phenotypes > Severe intellectual disability-progressive spastic diplegia syndrome

Severe intellectual disability-progressive spastic diplegia syndrome

Synonyms
NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS
Modes of inheritance
Unknown inheritance (Orphanet)

Summary

CTNNB1 neurodevelopmental disorder (CTNNB1-NDD) is characterized in all individuals by mild-to-profound cognitive impairment and in up to 39% of reported individuals by exudative vitreoretinopathy, an ophthalmologic finding consistent with familial exudative vitreoretinopathy (FEVR). Other common findings include truncal hypotonia, peripheral spasticity, dystonia, behavior problems, microcephaly, and refractive errors and strabismus. Less common features include intrauterine growth restriction, feeding difficulties, and scoliosis. [from GeneReviews]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CTNNB, EVR7, MRD19, NEDSDV, armadillo, CTNNB1
    Summary: catenin beta 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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