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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects

Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects

Summary

Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects (IDDMDS) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy manifest as speech delay and late walking by a few years. Affected individuals have hypertonia or, more rarely, hypotonia; a notable common feature is facial myokymia with corresponding EMG findings. Additional features include distal skeletal defects such as joint contractures, hypo- or areflexia, and hernia (Marafi et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IDDMDS, LGIL4, LGI3
    Summary: leucine rich repeat LGI family member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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