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Baralle-Macken syndrome

Synonyms
NEURODEVELOPMENTAL DISORDER WITH CATARACTS AND VARIABLE MICROCEPHALY

Summary

Baralle-Macken syndrome (BARMACS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy, difficulty walking or inability to walk, and impaired intellectual development with poor or absent speech. Affected individuals develop early-onset cataracts; some may have microcephaly. Additional more variable features may include dysmorphic facial features, metabolic abnormalities, spasticity, and lymphopenia (summary by Macken et al., 2021). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BARMACS, COPB, COPB1
    Summary: COPI coat complex subunit beta 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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