" /> Platyspondylic lethal skeletal dysplasia, torrance type - CISMeF





Preferred Label : Platyspondylic lethal skeletal dysplasia, torrance type;

Symbol : PLSDT;

CISMeF acronym : PLSDL; PLSDT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lethal short-limbed platyspondylic dwarfism, torrance type; Thanatophoric dysplasia, torrance variant;

Included titles and symbols : Platyspondylic lethal skeletal dysplasia, luton type; Thanatophoric dysplasia, luton variant; PLSDL;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0039);

Prefixed ID : #151210;

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03/05/2025


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