GTR Home > Conditions/Phenotypes > Tessadori-van Haaften neurodevelopmental syndrome 2

Tessadori-van Haaften neurodevelopmental syndrome 2

Summary

Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-2 (TEBIVANED2) is characterized by poor overall growth, profound global developmental delay with absent speech, and characteristic dysmorphic facial features, including hypertelorism, abnormal nose, and wide mouth (Tessadori et al., 2020). For a discussion of genetic heterogeneity of Tessadori-Bicknell-van Haaften neurodevelopmental syndrome, see TEBIVANED1 (619758). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: H4-16, H4/e, H4C1, H4C12, H4C13, H4C14, H4C15, H4C16, H4C2, H4C3, H4C4, H4C5, H4C6, H4C8, H4C9, H4F2iv, H4FE, HIST1H4J, TEBIVANED2, TEVANED2, dJ160A22.2, H4C11
    Summary: H4 clustered histone 11

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.