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ectodermal dysplasia with ectrodactyly & macular dystrophy; EEM syndrome; Albrectsen-Svendsen syndrome; Ohdo-Hirayama-Terawaki syndrome
Genetics:
- autosomal recessive
- associated with defects in CDH3
Clinical manifestations:
- features of ectodermal dysplasia
a) sparse eyebrows & scalp hair
b) selective tooth agenesis
- macular dystrophy
- ectrodactyly
General
ectodermal dysplasia
syndrome
Database Correlations
OMIM 225280
References
UniProt :accession P22223