ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Syndactyly type 5


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.56)	HOXD13

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Syndactyly type 5
	Synonym(s): (no synonyms)		Synonym(s): - Postaxial syndactyly with metacarpal synostosis - SD5

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538155

Syndactyly type 5
	Very frequent - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Terminal / third phalangeal bone of fingers hypoplasia - Ulnar deviation of fingers Frequent - Camptodactyly of fingers - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Clinodactyly of fifth finger
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)