Term Name: | partial trisomy distal 4q |
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Synonyms: | Chromosome 4, Partial Trisomy 4q, Distal 4q Trisomy, Dup(4q) Syndrome, Partial, Duplication 4q Syndrome, Partial, Partial Trisomy 4q Syndrome |
Definition: | A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. |
Ontology: | Human Disease [DOID:0111159] ( DOID:0111159 ) |