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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

A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder and impaired balance. Variable manifestations include hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern and seizures. [from SNOMEDCT_US]

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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