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Hypomyelination-congenital cataract syndrome
Disease definition
A rare developmental defect 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:85163
Classification level: DisorderSummary
Epidemiology
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.
Etiology
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.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
Detailed information
Disease review articles
- Review article
- English (2011) - Expert Rev Neurother
- Clinical genetics review
- English (2021) - GeneReviews
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.