has material basis in germline mutation in CDH3 congenital nervous system disorder EEM syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome https://www.malacards.org/card/ectodermal_dysplasia_ectrodactyly_and_macular_dystrophy_syndrome OMIM:225280 EEM syndrome UMLS:C1857041 GARD:0002078 MONDO:0009155 DOID:0111649 SCTID:720856002 ectodermal dysplasia, ectrodactyly, and macular dystrophy EEMS ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome MESH:C536190 EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). MEDGEN:341679 Orphanet:1897 dysostosis congenital limb malformation ectodermal dysplasia syndrome hereditary macular dystrophy