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GNB5-related intellectual disability-cardiac arrhythmia syndrome
Disease definition
A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
ORPHA:542306
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Childhood
- ICD-10: I49.8
- OMIM: 617173
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)
Detailed information
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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