Primrose Syndrome (PRIMS)

Primrose Syndrome(来自ICD-11)

别称:

Ossified Ear Cartilages with Mental Deficiency, Muscle Wasting, and Bony Changes

Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome

Prims

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Primrose Syndrome, also known as ossified ear cartilages with mental deficiency, muscle wasting, and bony changes, is related to chromosome 3q13.31 deletion syndrome and muscular atrophy. An important gene associated with Primrose Syndrome is ZBTB20 (Zinc Finger And BTB Domain Containing 20). Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and scoliosis

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