Version: 8.0.0
Date: Tue Jan 28 2025
ring chromosome 14 syndrome
DOID:0070621
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

ring chromosome 14 syndrome

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.
Synonyms
  • r(14) syndrome
  • r14 syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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