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Echinobase
Summary Literature (0)
DOID:0081264 - developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome


Disease Ontology Definition:A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R).

Synonyms:

Echinobase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)