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distal 10q deletion syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.
Disease Ontology Description A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10.
Mondo Term and Equivalent IDs
MONDO:0012315:  distal 10q deletion syndrome
GARD:0003711: 
MESH:C567182: 
Orphanet:96148: 
SCTID:718687003: 
UMLS:C2674937: 
UMLS:C4305277: