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Baraitser-winter syndrome 2

Summary

Excerpted from the GeneReview: Baraitser-Winter Cerebrofrontofacial Syndrome
Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.
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:
Alain Verloes
Séverine Drunat
Daniela Pilz
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Available tests

61 tests are in the database for this condition.

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Clinical tests (61 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACT, ACTG, DFNA20, DFNA26, HEL-176, ACTG1
    Summary: actin gamma 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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