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Birk-Barel syndrome

Synonyms
Birk Barel mental retardation dysmorphism syndrome; Mental retardation with hypotonia and facial dysmorphism

Summary

Excerpted from the GeneReview: KCNK9 Imprinting Syndrome
KCNK9 imprinting syndrome is characterized by congenital central hypotonia (manifest as decreased movement, lethargy, and weak cry), severe feeding difficulties (resulting from facial weakness and poor suck), delayed development/intellectual disability, and dysmorphic manifestations. Poor feeding can cause failure to thrive during infancy unless managed appropriately. Significant dysphagia of solid foods typically persists until puberty. Intellectual disability can be severe. To date 19 individuals with a molecularly confirmed diagnosis have been reported.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Neda Zadeh
John M Graham
view full author information

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BIBARS, K2p9.1, KT3.2, TASK-3, TASK3, TASK32, KCNK9
    Summary: potassium two pore domain channel subfamily K member 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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