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Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties

Summary

Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (NEDSFF) is an autosomal recessive disorder characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death (Shankar et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AD-018, CGI-30, HSPC143, NEDSFF, NPD015, DPH5
    Summary: diphthamide biosynthesis 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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