You are using an outdated browser. Please upgrade your browser to improve your experience.

chromosome 15q24 deletion syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0013256:  chromosome 15q24 deletion syndrome
GARD:0012219: 
MESH:C579849: 
Orphanet:94065: 
SCTID:699308002: 
UMLS:C3150674: 
UMLS:CN237818: