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Tessadori-van Haaften neurodevelopmental syndrome 1

Synonyms
TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1

Summary

Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-1 (TEBIVANED1) is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose. Other variable neurologic and systemic features may also occur (Tessadori et al., 2017). Genetic Heterogeneity of Tessadori-van Haaften Neurodevelopmental Syndrome See also TEBIVANED2 (619759), caused by mutation in the H4C11 gene (602826); TEBIVANED3 (619950), caused by mutation in the H4C5 gene (602830); and TEBIVANED4 (619951), caused by mutation in the H4C9 gene (602833). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: H4-16, H4/g, H4C1, H4C11, H4C12, H4C13, H4C14, H4C15, H4C16, H4C2, H4C4, H4C5, H4C6, H4C8, H4C9, H4FG, HIST1H4C, TEBIVANED1, TEVANED1, dJ221C16.1, H4C3
    Summary: H4 clustered histone 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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