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Hypomyelination-congenital cataract syndrome

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • G37.8
MeSH -
MedDRA -


Disease definition

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.


The syndrome has been described in 10 children from five different families.

Clinical description

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).

Genetic counseling

It is transmitted as an autosomal recessive trait.

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Detailed information

Review article
Clinical genetics review
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