" /> Jaberi-elahi syndrome - CISMeF





Preferred Label : Jaberi-elahi syndrome;

Symbol : JABELS;

CISMeF acronym : JABELS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NEDFET2; Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GTP-binding protein 2 gene (GTPBP2, 607434.0001);

Laboratory abnormalities : Iron parameters are low normal (family A);

Prefixed ID : #617988;

Details


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08/07/2025


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