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ZTTK syndrome

Synonyms
ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME; ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

ZTTK syndrome (ZTTKS) is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016). [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BASS1, C21orf50, DBP-5, NREBP, SON3, TOKIMS, SON
    Summary: SON DNA and RNA binding protein

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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