chromosome 13q14 deletion syndrome

Term ID

DOID:0060391

Synonyms

• deletion 13q14

Definition

A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. https://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/

References

• ICD10CM:Q93.5
• OMIM:613884
• ORDO:1587

Ontology

Human Disease   ( DOID:0060391 )