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;
Origin ID : 617988;
UMLS CUI : C4693848;
Genes related to phenotype
HPO term(s)
Semantic type(s)