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Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities

Summary

Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton 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: FIM, MYM, NECRC, RAMP, SCLL, ZNF198, ZMYM2
    Summary: zinc finger MYM-type containing 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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