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Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies

Summary

Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies (IDNADFS) is characterized by mildly impaired global development, speech delay with nasal speech, and dysmorphic facial features, including high forehead, midface hypoplasia, micrognathia or high-arched palate, hypo/hypertelorism, upslanting palpebral fissures, and thin upper lip. Some patients may have skeletal anomalies, such as brachydactyly, 2-3 toe syndactyly, and flat feet (summary by Alesi et al., 2019 and Uehara et al., 2019). [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: CDC36, HSPC131, IDNADFS, NOT2, NOT2H, CNOT2
    Summary: CCR4-NOT transcription complex subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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