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GTR Home > Conditions/Phenotypes > Intellectual disability, short stature, facial anomalies, and joint dislocations

Intellectual disability, short stature, facial anomalies, and joint dislocations

Summary

Intellectual developmental disorder with short stature, facial anomalies, and speech defects (IDDSFAS) is an autosomal recessive disorder characterized by stature below the 1st centile, mild facial dysmorphism comprising mainly large bulbous nose and microretrognathia, and developmental delay with varying degrees of intellectual disability (Ansar et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: FBL3, FBL3A, FBXL3A, IDDSFAS, FBXL3
    Summary: F-box and leucine rich repeat protein 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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