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GTR Home > Conditions/Phenotypes > Heterotopia, periventricular, X-linked dominant

Heterotopia, periventricular, X-linked dominant

Synonyms
HETEROTOPIA, PERIVENTRICULAR, 1; Heterotopia familial nodular; Heterotopia, periventricular, Ehlers-Danlos variant; Nodular heterotopia bilateral periventricular; PERIVENTRICULAR NODULAR HETEROTOPIA 1; PERIVENTRICULAR NODULAR HETEROTOPIA 4; X-linked periventricular heterotopia

Summary

Excerpted from the GeneReview: FLNA Deficiency
FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilatation and rupture of the thoracic aortic, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Ming Hui Chen
Christopher A Walsh
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Available tests

102 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (102 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD, FLNA
    Summary: filamin A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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