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GTR Home > Conditions/Phenotypes > Kohlschutter-Tonz syndrome-like

Kohlschutter-Tonz syndrome-like

Synonyms
DEN HOED-DE BOER-VOISIN SYNDROME

Summary

Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DEFDA, DHDBV, KTZSL, SATB1
    Summary: SATB homeobox 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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