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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies

Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies

Synonyms
NABAIS SA-DE VRIES SYNDROME, TYPE 2

Summary

Nabais Sa-de Vries syndrome type 2 (NSDVS2) is characterized by global developmental delay apparent from birth and distinctive dysmorphic facial features. Most patients have additional anomalies, including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities, such as hypothyroidism (summary by Nabais Sa et al., 2020). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BTBD32, NEDMACE, NEDMIDF, NSDVS1, NSDVS2, TEF2, SPOP
    Summary: speckle type BTB/POZ protein

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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