ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
20 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Osteoglophonic dwarfism


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.67)	FGFR1

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Osteoglophonic dwarfism

	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: - Average age onset: - 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: C536050

Osteoglophonic dwarfism
	Very frequent - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Autosomal dominant inheritance - Craniostenosis / craniosynostosis / sutural synostosis - Hypertelorism - Short stature / dwarfism / nanism Frequent - Anteverted nares / nostrils - Clavicle absent / abnormal - Delayed bone age - Failure to thrive / difficulties for feeding in infancy / growth delay - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent / bat ears - Rhizomelic micromelia Occasional - Abnormal / absent ossification - Choanal atresia - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis - Short hand / brachydactyly - Undescended / ectopic testes / cryptorchidia / unfixed testes
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)