" /> Spondyloepimetaphyseal dysplasia, sponastrime type - CISMeF





Preferred Label : Spondyloepimetaphyseal dysplasia, sponastrime type;

Symbol : SEMDSP;

CISMeF acronym : SEMDSP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation; Sponastrime dysplasia; Spondylar and nasal alterations with striated metaphyses;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Tonsoku-like DNA repair protein gene (TONSL, 604546.0001);

Prefixed ID : #271510;

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27/07/2025


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