Woods-Black-Norbury syndrome

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Woods-Black-Norbury syndrome2016-12-03T08:05:59+00:00

Woods-Black-Norbury syndrome

GENETICS, NEUROLOGY

Definition An über rare, little studied condition (OMIM:300076) characterised by severe neonatal hypotonia and low birth weight in males and complex hereditary spastic paraplegia in females.

Molecular pathology The gene for Woods-Black-Norbury syndrome has been localised to chromosome Xq26-qter. 

Synonyms Immunoneurologic syndrome—X-linked—of Woods—Black—and Norbury, Wood neuroimmunologic syndrome 

Reference http://www.omim.org/entry/300076

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