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Metadata
ID DOID:0111159
Name partial trisomy distal 4q
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.
https://rarediseases.org/rare-diseases/chromosome-4-partial-trisomy-distal-4q/, https://www.ncbi.nlm.nih.gov/pubmed/23449628
Synonyms

Chromosome 4, Partial Trisomy 4q [EXACT]

Distal 4q Trisomy [EXACT]

Dup(4q) Syndrome, Partial [EXACT]

Duplication 4q Syndrome, Partial [EXACT]

Partial Trisomy 4q Syndrome [EXACT]

Parent Relationships

is_a chromosomal duplication syndrome

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