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Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
Disease definition
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.
ORPHA:529665
Classification level: Disorder- Synonym(s):
- GPAA1-related biosynthesis defect
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy
- ICD-10: Q87.8
- OMIM: 617810
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)
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