Richieri Costa Pereira syndrome

Richieri Costa Pereira syndrome: See http://www.omim.org/entry/268305 ...1

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Symptoms of Richieri Costa Pereira syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Genetics of Richieri Costa Pereira syndrome

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) ...Source: GTR (NCBI/NIH)2 ...

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Names and Terminology

Other Names: Robin sequence with cleft mandible and limb anomalies; Richieri-Costa and Pereira form of acrofacial dysostosis; Short stature, Robin sequence, cleft mandible, pre ...3

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References

  1. Source: Monarch Initiative
  2. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1849348/ 
  3. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 4718/ richieri-costa-pereira-syndrome

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.