Battaglia-Neri syndrome
Alternate names
Epilepsy - microcephaly - skeletal dysplasia
Definition
Epilepsy-microcephaly-skeletal dysplasia 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.
NIH genetic and rare disease info
Battaglia-Neri syndrome is a rare disease.
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