Deafness-Epiphyseal Dysplasia-Short Stature Syndrome

耳聋-软骨发育不全-矮小症综合症(来自翻译大模型)

别称:

Hearing Loss-Epiphyseal Dysplasia-Short Stature Syndrome

Chitty-Hall-Baraitser Syndrome

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Deafness-Epiphyseal Dysplasia-Short Stature Syndrome（听力丧失-软骨发育不全-身材矮小综合征）, also known as hearing loss-epiphyseal dysplasia-short stature syndrome, is related to growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction. Affiliated tissues include bone, and related phenotypes are hearing impairment and short stature.

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