Orphanet: Neurodevelopmental delay seizures ophthalmic anomalies osteopenia cerebellar atrophy syndrome

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

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: C4540520
MeSH: -
GARD: -
MedDRA: -

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)

Topic of your comment *

Your message *

Attention

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

ORPHA:529665

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

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services