PLAA-associated neurodevelopmental disorder

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Synonyms: PLAAND

A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy microcephaly severe global developmental delay and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex seizures dystonia and hypomimia or amimia as well as progressive chest deformities and contractures of large and hyperextensibility of small joints among others. Thin corpus callosum is a prominent feature in brain imaging in addition to white matter abnormalities consistent with leukoencephalopathy.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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PLAA-associated neurodevelopmental disorder?

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