Search Ontology:
Human Disease

Potocki-Lupski syndrome

Term ID
DOID:0060853
Synonyms
  • 17p11.2 microduplication syndrome
  • chromosome 17p11.2 duplication syndrome
  • trisomy 17p11.2
Definition
A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2. (2)
References
Ontology
Human Disease   ( DOID:0060853 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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