Visualize Submit Comment

Metadata
ID	DOID:0060391
Name	chromosome 13q14 deletion syndrome
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/
Xrefs	ICD10CM:Q93.5 MIM:613884 ORDO:1587
Subsets	DO_rare_slim
Synonyms	deletion 13q14 [EXACT]
Parent Relationships	is_a chromosomal deletion syndrome is_a autosomal dominant disease