partial trisomy distal 4q (DOID:0111159)
Alliance: disease page
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.