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General Information
ZIRC
OBO ID: DOID:0060238
Term Name: Van Maldergem syndrome Search Ontology:
Synonyms:
  • cerebro-facio-articular syndrome
Definition: A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. https://www.ncbi.nlm.nih.gov/pubmed/1633641
References:
Ontology: Human Disease   (DOID:0060238)
OTHER Van Maldergem syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)