A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

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=193
hasDbXref
  • UMLS:C0265223
  • ICD-10:Q87.8
  • MeSH:C536438
  • MedDRA:10049066
  • OMIM:216550
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409943
  • http://www.orpha.net/ORDO/Orphanet_409944
  • http://www.orpha.net/ORDO/Orphanet_409945
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
notation
  • ORPHA:193
part of
  • http://www.orpha.net/ORDO/Orphanet_611327
  • http://www.orpha.net/ORDO/Orphanet_240371
  • http://www.orpha.net/ORDO/Orphanet_98661
  • http://www.orpha.net/ORDO/Orphanet_102283
  • http://www.orpha.net/ORDO/Orphanet_331184
present in
  • http://www.orpha.net/ORDO/Orphanet_409991