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hypomyelination with congenital cataract
Pathology:
- congenital cataract
- progressive neurologic impairment
- diffuse myelin deficiency
Genetics:
- associated with defects in hyccin gene
Clinical manifestations:
- progressive pyramidal & cerebellar dysfunction,
- muscle weakness & muscel wasting prevailingly in the lower limbs
- mental deficiency ranges from mild to moderate
General
genetic syndrome (multisystem disorder)
References
UniProt :accession Q9BWV2