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GTR Home > Conditions/Phenotypes > Alzahrani-Kuwahara syndrome

Alzahrani-Kuwahara syndrome

Synonyms
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CATARACTS

Summary

Alzahrani-Kuwahara syndrome (ALKUS) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features. More variable findings include early-onset cataracts, hypotonia, congenital heart defects, lower limb spasticity, and hypospadias (summary by Alzahrani et al., 2020). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALKUS, C17orf71, SMG8
    Summary: SMG8 nonsense mediated mRNA decay factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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