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Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

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ORPHA:353284

Classification level: Subtype of disorder

Prevalence: <1 / 1 000 000

Inheritance: -

Age of onset: Neonatal

ICD-10: Q87.2

OMIM: 613684

UMLS: C3150941

Summary

This disease is described under Rubinstein-Taybi syndrome

Detailed information
General public
Article for general public
Svenska (2016) - Socialstyrelsen
Guidelines
Anesthesia guidelines
English (2018) - Orphananesthesia
Čeština (2018) - Orphananesthesia
Português (2018) - Orphananesthesia
Disease review articles
Review article
English (2015) - Ital J Pediatr
Clinical genetics review
English (2019) - GeneReviews
Genetic testing
Guidance for genetic testing
English (2010) - Eur J Hum Genet

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

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