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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal recessive 14

Intellectual disability, autosomal recessive 14

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 14

Summary

Autosomal recessive intellectual developmental disorder-14 (MRT14) is characterized by developmental delay from birth with mild to moderate impairment of intellectual development. There are no dysmorphic features, and growth parameters and neurologic findings are normal. [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GPSN2, MRT14, SC2, TER, TECR
    Summary: trans-2,3-enoyl-CoA reductase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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