" /> Ciliary dyskinesia, primary, 7 - CISMeF





Preferred Label : Ciliary dyskinesia, primary, 7;

Symbol : CILD7;

CISMeF acronym : CILD7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 7, with or without situs inversus;

Description : Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dynein axonemal heavy chain 11 gene (DNAH11, 603339.0001);

Laboratory abnormalities : Cilia show nonflexible and hyperkinetic beating of axonemes; Cilia may also be static, with slow activity; Axonemes show normal structure;

Prefixed ID : #611884;

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04/05/2025


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