Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
Synonyms: GPAA1-related biosynthesis defect
A rare genetic syndromic intellectual disability characterized by global developmental delay early-onset seizures cerebellar atrophy osteopenia nystagmus and dysmorphic facial features including bitemporal narrowing prominent forehead anteverted nares. Dysarthria dysmetria ataxic gait spasticity and dysmorphic features have also been associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome?
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