Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

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Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare genetic neurological disorder characterized by mild to severe developmental delay and speech impairment truncal hypotonia abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials) progressive brain atrophy mainly affecting the cerebellum and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities dystonic posturing hyporeflexia scoliosis postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes gingival hyperplasia short philtrum and retrognathia).

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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