Term Name: ring chromosome 14 syndrome
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.
Ontology: Human Disease [DOID:0070621]   ( DOID:0070621 )

Relationships
is a type of: ring chromosome syndrome