Term Name: | Kagami-Ogata syndrome |
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Synonyms: | |
Definition: | A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. |
Ontology: | Human Disease [DOID:0111712] ( DOID:0111712 ) |