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GTR Home > Conditions/Phenotypes > Intellectual disability, X-linked 61

Intellectual disability, X-linked 61

Synonyms
TONNE-KALSCHEUER SYNDROME

Summary

Tonne-Kalscheuer syndrome (TOKAS) is an X-linked recessive multiple congenital anomaly disorder with 2 main presentations. Most patients exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities (summary by Frints et al., 2019). Also see Fryns syndrome (229850), an autosomal recessive disorder with overlapping features. [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRX61, NY-REN-43, RNF12, TOKAS, RLIM
    Summary: ring finger protein, LIM domain interacting

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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