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Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects

Summary

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) is characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging (Reichert et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HNRPH, HNRPH1, NEDCDS, hnRNPH, HNRNPH1
    Summary: heterogeneous nuclear ribonucleoprotein H1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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