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Partington-Anderson syndrome

Orpha number ORPHA2829
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
OMIM
UMLS
  • C1850075
MeSH
  • C536299
MedDRA -
SNOMED CT -

Summary

This syndrome is characterized by pre- and post-natal growth deficiency, developmental delay, a friendly disposition, microcephaly, and a distinctive facial appearance (thick eyebrows, full cheeks, short nose). It has been described in three patients (a brother and sister and a girl from an unrelated family). It is probably inherited as an autosomal recessive trait.


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