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DO Term : partial trisomy distal 4q [DOID:0111159] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • Partial Trisomy 4q Syndrome,
  • Chromosome 4, Partial Trisomy 4q,
  • Distal 4q Trisomy,
  • Duplication 4q Syndrome, Partial,
  • Dup(4q) Syndrome, Partial
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