Metadata | |
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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 |