U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal recessive 72

Intellectual developmental disorder, autosomal recessive 72

Synonyms
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 72

Summary

Autosomal recessive intellectual developmental disorder-72 (MRT72) is characterized by moderately to severely impaired intellectual development, microcephaly, and facial dysmorphism. Some patients may have seizures (Hu et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HSPC133, MRT72, METTL5
    Summary: methyltransferase 5, N6-adenosine

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.