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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal recessive 70

Intellectual developmental disorder, autosomal recessive 70

Synonyms
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 70

Summary

MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients (Maddirevula et al., 2018; Perez et al., 2018). [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: BM-011, MRT70, SFRS21, SRrp53, RSRC1
    Summary: arginine and serine rich coiled-coil 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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