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Baraitser-Winter syndrome 1

Synonyms
BARAITSER-WINTER SYNDROME 1, ATYPICAL; Cerebro-fronto-facial Syndrome; Cerebrofrontofacial syndrome; Iris coloboma with ptosis, hypertelorism, and mental retardation; MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES; PACHYGYRIA, MENTAL RETARDATION, EPILEPSY, AND CHARACTERISTIC FACIES

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

56 tests are in the database for this condition.

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Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BKRNS, BNS, BRWS1, CSMH, DDS1, PS1TP5BP1, THC8, ACTB
    Summary: actin beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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