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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

OMIM:613884

ORDO:1587

Subsets

DO_rare_slim

Synonyms

deletion 13q14 [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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