Terminology Service for NFDI4Health
facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Go to external page
http://purl.obolibrary.org/obo/MONDO_0009074
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive. [ ]
Term info
Label
facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Subsets
ordo_malformation_syndrome
exactMatch
http://linkedlifedata.com/resource/umls/id/C1857352, http://identifiers.org/mesh/C535985, http://purl.obolibrary.org/obo/Orphanet_1970, https://omim.org/entry/220219
has related synonym
Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY, Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY
id
MONDO:0009074
narrowMatch
https://icd.codes/icd10cm/Q87.8