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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal dominant 48

Intellectual disability, autosomal dominant 48

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48; MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities. [from ORDO]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MIG5, MRD48, Rac-1, TC-25, p21-Rac1, RAC1
    Summary: Rac family small GTPase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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