Search Ontology:
Human Disease
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
- Term ID
- DOID:0081264
- Synonyms
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- 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/
- References
- Ontology
- Human Disease ( DOID:0081264 )
- is a type of
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