ring chromosome 14 syndrome

Term ID

DOID:0070621

Synonyms

• r(14) syndrome
• r14 syndrome
• ring 14
• ring 14 syndrome
• ring chromosome 14

Definition

A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure. (4)

References

• GARD:6072
• MESH:C535487
• MIM:616606
• ORDO:1440
• UMLS_CUI:C2930916

Ontology

Human Disease   ( DOID:0070621 )