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GTR Home > Conditions/Phenotypes > Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Synonyms
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016). [from OMIM]

Available tests

11 tests are in the database for this condition.

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Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PEBAT, SSD-1, tfcD, TBCD
    Summary: tubulin folding cofactor D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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