syndromic intellectual disability epilepsy-microcephaly-skeletal dysplasia syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/epilepsy_microcephaly_skeletal_dysplasia_syndrome https://www.malacards.org/card/impaired_intellectual_development_microcephaly_epilepsy_and_coarse_face mental retardation, microcephaly, epilepsy, and coarse face MEDGEN:330468 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. Orphanet:1948 OMIM:601352 GARD:0000836 epilepsy - microcephaly - skeletal dysplasia UMLS:C1832437 MONDO:0011048 Battaglia-Neri syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability