Orphanet: Rubinstein Taybi syndrome due to 16p13.3 microdeletion

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Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

ORPHA:353281

Classification level: Subtype of disorder

Synonym(s): -
Prevalence: -
Inheritance: -
Age of onset: Antenatal, Neonatal
ICD-10: Q87.2
ICD-11: LD44.G1
OMIM: 610543
UMLS: -
MeSH: -
GARD: 10754
MedDRA: -

Summary

This disease is described under Rubinstein-Taybi syndrome

Detailed information

General public

Article for general public
Svenska (2016) - Socialstyrelsen

Guidelines

Anesthesia guidelines
Czech (2018) - Orphananesthesia
English (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

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.