" /> Cleft lip/palate-ectodermal dysplasia syndrome - CISMeF





Preferred Label : Cleft lip/palate-ectodermal dysplasia syndrome;

Symbol : CLPED1;

CISMeF acronym : CLPED1; ED4; OFC7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Zlotogora-ogur syndrome; Ectodermal dysplasia, margarita island type; Ectodermal dysplasia, type 4; Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly; ED4;

Included titles and symbols : Orofacial cleft 7; Cleft lip with or without cleft palate, nonsyndromic, 7; OFC7;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the poliovirus receptor-like 1 gene (PVRL1, 600644.0001);

Prefixed ID : #225060;

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28/04/2025


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