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ID DOID:0081264
PURL http://purl.obolibrary.org/obo/DOID_0081264 Copy
Name developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
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).
https://pubmed.ncbi.nlm.nih.gov/33474647/
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is_a syndrome

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