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GTR Home > Conditions/Phenotypes > Amelocerebrohypohidrotic syndrome

Amelocerebrohypohidrotic syndrome

Synonyms
EPILEPSY AND YELLOW TEETH; EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTA; Epilepsy dementia amelogenesis imperfecta; KOHLSCHUTTER SYNDROME; Kohlschutter Tonz syndrome; Kohlschutter's syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Impaired intellectual development is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by Schossig et al., 2012 and Mory et al., 2012). See also Kohlschutter-Tonz syndrome-like (KTZSL; 619229), caused by heterozygous mutation in the SATB1 gene (602075) on chromosome 3p23. [from OMIM]

Available tests

26 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KTZS, RAV2, ROGD1, ROGDI
    Summary: rogdi atypical leucine zipper

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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