" /> Intellectual developmental disorder with short stature, facial anomalies, and speech defects - CISMeF





Preferred Label : Intellectual developmental disorder with short stature, facial anomalies, and speech defects;

Symbol : IDDSFAS;

CISMeF acronym : IDDSFAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, short stature, facial anomalies, and joint dislocations;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the F-box and leucine-rich repeat protein 3 gene (FBXL3, 605653.0001);

Prefixed ID : #606220;

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29/07/2025


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