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GTR Home > Conditions/Phenotypes > TELO2-related intellectual disability-neurodevelopmental disorder

TELO2-related intellectual disability-neurodevelopmental disorder

Synonyms
You-Hoover-Fong syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

You-Hoover-Fong syndrome (YHFS) is an autosomal recessive disorder with clinical features of global developmental delay, impaired intellectual development, dysmorphic facial features, microcephaly, abnormal movements, and abnormal auditory and visual function (You et al., 2016). [from OMIM]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLK2, TEL2, YHFS, TELO2
    Summary: telomere maintenance 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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