Orphanet: Neurodevelopmental delay seizures ophthalmic anomalies osteopenia cerebellar atrophy syndrome

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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: -

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Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

ORPHA:529665

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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