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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with microcephaly and dysmorphic facies

Neurodevelopmental disorder with microcephaly and dysmorphic facies

Synonyms
NABAIS SA-DE VRIES SYNDROME, TYPE 1

Summary

Nabais Sa-de Vries syndrome type 1 (NSDVS1) is characterized by global developmental delay apparent from infancy, variable behavioral abnormalities, microcephaly, and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose. The severity is variable (summary by Nabais Sa et al., 2020). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 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

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Imported from Human Phenotype Ontology (HPO)

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