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Hypomyelination - congenital cataract

Orpha number ORPHA85163
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • G37.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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. 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 transmitted as an autosomal recessive trait and caused by mutations in hyccin, a recently identified nuclear membrane protein encoded by the FAM126A gene (7p15.3).


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Detailed information

Review article
  • EN (2011)
Clinical genetics review
  • EN (2011)
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