Disease

Rubinstein-Taybi syndrome

Name: Rubinstein-Taybi syndrome
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:1933 Rubinstein-Taybi syndrome A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome Broad Thumb-Hallux syndrome

Definition

A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.

Synonyms

Broad Thumb-Hallux syndrome
proximal chromosome 16p13.3 deletion syndrome

Cross References

GARD:7593
ICD10CM:Q87.2

Parent Terms

autosomal dominant disease
chromosomal deletion syndrome

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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