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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal recessive 74

Intellectual developmental disorder, autosomal recessive 74

Synonyms
Sotos syndrome 3

Summary

MRT74 is characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported (Almuriekhi et al., 2015; Mastrangelo et al., 2020). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APCL, MRT74, APC2
    Summary: APC regulator of WNT signaling pathway 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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