" /> Congenital arthrogryposis with anterior horn cell disease - CISMeF





Preferred Label : Congenital arthrogryposis with anterior horn cell disease;

Symbol : CAAHD;

CISMeF acronym : LAAHD; CAAHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LAAHD; Lethal arthrogryposis with anterior horn cell disease;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GLE1, RNA export mediator gene (GLE1, 603371.0002);

Prefixed ID : #611890;

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04/05/2025


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