Dyggve-Melchior-Clausen Disease (DMC)

Dyggve-Melchior-Clausen Disease(来自ICD-11)
别称:
Dyggve-Melchior-Clausen Syndrome
Dmc
Pseudo-Morquio Disease Type I
Dmc Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dyggve-Melchior-Clausen Disease, also known as dyggve-melchior-clausen syndrome, is related to mucopolysaccharidosis iv and osteochondrodysplasia, and has symptoms including waddling gait An important gene associated with Dyggve-Melchior-Clausen Disease is DYM (Dymeclin), and among its related pathways/superpathways are Vesicle-mediated transport and Rab regulation of trafficking. Affiliated tissues include bone and spinal cord, and related phenotypes are intellectual disability and failure to thrive
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基础信息

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参考文献
MALACARDS
AR
Infant
<1/1000000
19
95
22

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