partial trisomy distal 4q

Term ID

DOID:0111159

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. (2)

References

Ontology

Human Disease   ( DOID:0111159 )