Search
hypotrichosis with juvenile macular dystrophy
Epidemiology: rare
Genetics:
- autosomal recessive
- associated with defects in CDH3
Clinical manifestations:
- early hair loss heralding severe degenerative changes of the retinal macula
- blindness during the second to third decade of life
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 601553
References
UniProt :accession P22223