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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal recessive 76

Intellectual developmental disorder, autosomal recessive 76

Synonyms
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 76

Summary

Autosomal recessive intellectual developmental disorder-76 (MRT76) is characterized by impaired intellectual development, absent speech, poor sleep, abnormal EEG with seizures, normal brain imaging, and precocious puberty (Ismail et al., 2022). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GLUH1, GLUR1, GLURA, GluA1, HBGR1, MRD67, MRT76, GRIA1
    Summary: glutamate ionotropic receptor AMPA type subunit 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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