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facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0009074:  facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
MESH:C535985: 
Orphanet:1970: 
UMLS:C1857352: