Agent Commons Collaborative Research
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
rareFacial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized 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.
- Identifiers
- MONDO:0009074 OMIM:220219Orphanet:1970
- Part of
- Central nervous system malformationCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY
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