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Metadata
ID DOID:0060395
Name chromosome 15q24 deletion syndrome
Definition A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15.
https://www.omim.org/entry/613406
Xrefs

GARD:12219

ICD10CM:Q93.5

MESH:C579849

OMIM:613406

ORDO:94065

Subsets

DO_rare_slim

Synonyms

15q24 microdeletion syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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