A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations.

Synonyms:

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Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465
hasDbXref
  • ICD-10:Q87.1
  • OMIM:619325
  • OMIM:615866
  • OMIM:616938
  • OMIM:618027
  • MeSH:C536436
  • OMIM:618362
  • OMIM:135900
  • OMIM:614609
  • UMLS:C0265338
  • OMIM:618506
  • OMIM:618779
  • OMIM:617808
  • OMIM:614607
  • OMIM:614608
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409944
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409929
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409979
notation
  • ORPHA:1465
part of
  • http://www.orpha.net/ORDO/Orphanet_102283
  • http://www.orpha.net/ORDO/Orphanet_139393
  • http://www.orpha.net/ORDO/Orphanet_498454
  • http://www.orpha.net/ORDO/Orphanet_611327
present in
  • http://www.orpha.net/ORDO/Orphanet_409991