PRUNE1-related neurological syndrome

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PRUNE1-related neurological syndrome

A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations such as features of lower motor neuron disease hypotonia spasticity contractures seizures respiratory insufficiency and optic atrophy among others. Dysmorphic craniofacial features include microcephaly tall forehead bitemporal narrowing flat nasal bridge low-set ears and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy delayed myelination and thin corpus callosum.

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 Data version November 2023

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PRUNE1-related neurological syndrome?

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