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CBL-related disorder

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Description

Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1; 163950) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by Martinelli et al., 2010). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML; 607785), as also seen in patients with Noonan syndrome (summary by Niemeyer et al., 2010).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

259

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Genes

External Links

  • OMIM

    613563

  • Orphanet

    363972

  • HPO
  • Medgen

    C3150803

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