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Metadata
ID DOID:0060394
Name chromosome 15q13.3 microdeletion syndrome
Definition A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome
Xrefs

GARD:10296

ICD10CM:Q93.5

MESH:C567439

OMIM:612001

ORDO:199318

Subsets

DO_rare_slim

Synonyms

15q13.3 microdeletion syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

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