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Hypomyelination-congenital cataract syndrome
Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.
ORPHA:85163Classification level: Disorder
The syndrome has been described in 10 children from five different families.
Progressive weakness of the muscles in the lower limbs was also reported.
The progressive neurological degeneration is caused by hypomyelination of the central and peripheral nervous systems. The syndrome is caused by mutations in hyccin, a recently identified nuclear membrane protein encoded by the FAM126A gene (7p15.3).
It is transmitted as an autosomal recessive trait.