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DOID:0060238 - Van Maldergem syndrome
Disease Ontology 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.
Synonyms: cerebro-facio-articular syndrome,
Echinobase Genes
:
fat4
| MIM:601390 - van maldergem syndrome 1; vmlds1 |
| MIM:615546 - van maldergem syndrome 2; vmlds2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)