Orphanet: GNB5 related intellectual disability cardiac arrhythmia syndrome

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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: C5568877
MeSH: -
GARD: -
MedDRA: -

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GNB5-related intellectual disability-cardiac arrhythmia syndrome

ORPHA:542306

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

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