DISEASES

Disease-gene associations mined from literature

Human genes for Potocki-Lupski syndrome

Potocki-Lupski syndrome [DOID:0060853]

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.

Synonyms:  Potocki-Lupski syndrome,  DOID:0060853,  PotockiLupski syndrome,  Potocki-Lupski disease,  Potocki-Lupski disorder ...