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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal recessive 79

Intellectual developmental disorder, autosomal recessive 79

Summary

Autosomal recessive intellectual developmental disorder-79 (MRT79) is characterized by global developmental delay apparent from infancy. Affected individuals have mildly delayed walking with an ataxic gait and severely impaired intellectual development with poor or absent speech. Additional features may include postnatal microcephaly and dysmorphic features (Van Bergen et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MRT79, TPR
    Summary: translocated promoter region, nuclear basket protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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