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Tan-Almurshedi syndrome

Summary

Tan-Almurshedi syndrome (TANALS) is an autosomal recessive neurodevelopmental disorder characterized by intrauterine growth retardation, poor overall growth with short stature and microcephaly, hypotonia, global developmental delay with impaired intellectual development, poor or absent speech, spasticity, and dysmorphic facial features (Westrip et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDD3, TANALS, DRG1
    Summary: developmentally regulated GTP binding protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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