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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal dominant 42

Intellectual disability, autosomal dominant 42

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42

Summary

Excerpted from the GeneReview: GNB1 Encephalopathy
GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Anya Revah-Politi
Tristan T Sands
Sophie Colombo
view full author information

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HG2A, MDS, MRD42, GNB1
    Summary: G protein subunit beta 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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