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Bosch-Boonstra-Schaaf optic atrophy syndrome

Summary

Excerpted from the GeneReview: NR2F1-Related Neurodevelopmental Disorder
NR2F1-related neurodevelopmental disorder (NR2F1-NDD) is characterized by developmental delay / intellectual disability (ranging from profound to mild) and is commonly associated with hypotonia, visual impairment (due to optic nerve abnormalities and/or cerebral visual impairment), epilepsy, and behavioral manifestations (e.g., autism spectrum disorder, attention-deficit/hyperactivity disorder).
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:
Christian Schaaf
Patrick Yu-Wai-Man
Ilia Valentin
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Available tests

37 tests are in the database for this condition.

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Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBOAS, BBSOAS, COUP-TFI, COUPTF1, EAR-3, EAR3, ERBAL3, SVP44, TCFCOUP1, TFCOUP1, NR2F1
    Summary: nuclear receptor subfamily 2 group F member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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