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"Rubinstein-Taybi" syndrome
- Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs ...
- Rubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, ...
- ... the CREBBP gene have been found to cause Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to ... the CREBBP gene is altered in people with Rubinstein-Taybi syndrome, their cells make only half of the normal ...
- ... EP300 gene have been identified in people with Rubinstein-Taybi syndrome, a condition characterized by short stature, moderate to ... this protein leads to the specific features of Rubinstein-Taybi syndrome, it is clear that changes in the EP300 ...
- ... About This Health Condition Some cases of severe Rubinstein-Taybi syndrome (sometimes known as chromosome 16p13.3 deletion syndrome) ... also have many of the typical features of Rubinstein-Taybi syndrome, including intellectual disability, distinctive facial features, and broad ...
- Developmental Disabilities (National Library of Medicine)Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
- ... Turner syndrome Phenylketonuria (PKU) Williams syndrome Noonan syndrome Rubinstein-Taybi syndrome Blepharophimosis syndrome
- ... chondroectodermal dysplasia) Familial polydactyly Laurence-Moon-Biedl syndrome Rubinstein-Taybi syndrome Smith-Lemli-Opitz syndrome Trisomy 13
- ... Lange syndrome Cri du chat syndrome Down syndrome Rubinstein-Taybi syndrome Seckel syndrome Smith-Lemli-Opitz syndrome Trisomy 18 ...
- ... malformed ears include: Beckwith-Wiedemann syndrome Potter syndrome Rubinstein-Taybi syndrome Smith-Lemli-Opitz syndrome Treacher Collins syndrome Trisomy ...
