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Epilepsy - microcephaly - skeletal dysplasia

Orpha number ORPHA1948
Synonym(s) Battaglia-Neri syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH
  • C537662
MedDRA -
SNOMED CT -

Summary

Battaglia-Neri syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.


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