Terminology Service for NFDI4Health
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facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Go to external page http://purl.obolibrary.org/obo/MONDO_0014741

Term info

Label

facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Synonyms
  • DESSH
  • Desanto-Shinawi syndrome
database cross reference
Subsets

ordo_clinical_subtype

exactMatch

http://linkedlifedata.com/resource/umls/id/CN242167, http://linkedlifedata.com/resource/umls/id/C4225239, https://omim.org/entry/616708, http://purl.obolibrary.org/obo/Orphanet_466950

has related synonym

chromosome 10P12-p11 deletion syndrome, developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities, DESANTO-SHINAWI syndrome

id

MONDO:0014741