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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1

Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1

Summary

Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis-1 (NEDFET1) is an autosomal recessive disorder characterized by profound neurodevelopmental impairment, microcephaly, pathognomonic craniofacial features, ectodermal defects, and tetraparesis (Salpietro et al., 2024). Also see Jaberi-Elahi Syndrome (JABELS; 617988), a similar disorder caused by mutation in the GTPBP2 gene (607434). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: GP-1, GP1, HSPC018, NEDFET1, GTPBP1
    Summary: GTP binding protein 1

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