A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506
hasDbXref
  • ICD-10:G93.8
  • OMIM:619013
  • OMIM:613658
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409979
notation
  • ORPHA:178506
part of
  • http://www.orpha.net/ORDO/Orphanet_71859
  • http://www.orpha.net/ORDO/Orphanet_98006
present in
  • http://www.orpha.net/ORDO/Orphanet_409991