ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
8 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Brachydactyly type E

CREBBP	(UniProt - OMIM)		HOXD13	(UniProt - OMIM)
			PTHLH	(UniProt - OMIM)


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		Brachydactyly type E

	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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

Brachydactyly type E
	Very frequent - Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign Frequent - Hyperextensible joints / articular hyperlaxity - Short stature / dwarfism / nanism - Terminal / third phalangeal bone of fingers hypoplasia Occasional - Frontal bossing / prominent forehead - Macrocephaly / macrocrania / megalocephaly / megacephaly - Upper limb asymmetry / hemiatrophy / hemihypertrophy
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)