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14q12 microdeletion syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:261144
SCTID:719574007
UMLS:C4305240
UMLS:CN202163
MONDO:0016833
High level summary of knowledge for a disease, including descriptions and datasource references.