/Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to CREBBP mutations
Rare Disease
MONDO:0008393
Also Known As
CREBBP Rubinstein-Taybi syndromeRSTS1Rubinstein-Taybi syndrome 1Rubinstein-Taybi syndrome caused by mutation in CREBBPRubinstein-Taybi syndrome due to CREBBP mutationsRubinstein-Taybi syndrome type 1RSTSRubinstein syndromebroad thumb-hallux syndromebroad thumbs and great toes, characteristic facies, and intellectual disabilitybroad thumbs and great toes, characteristic facies, and mental retardation
Definition
Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.
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