Intellectual Developmental Disorder with Microcephaly and Pontine and Cerebellar Hypoplasia (MICPCH)

智力发育障碍伴有小头畸形和脑桥小脑发育不全(来自ICD-11)

别称:

Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

Micpch

X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

Intellectual Developmental Disorder, X-Linked, Syndromic, Najm Type

X-Linked Intellectual Disability, Najm Type

Micpch Syndrome

Mrxsna

Intellectual Developmental Disorder and Microcephaly with Pontine and Cerebellar Hypoplasia

Mental Retardation, Microcephaly with Pontine, Cerebellar Hypoplasia

Syndromic X-Linked Intellectual Disability Najm Type

Mental Retardation, X-Linked, Syndromic, Najm Type

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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

智力发育障碍伴小头畸形和脑桥小脑发育不良，也称为智力障碍伴小头畸形和脑桥小脑发育不良，与综合征性X连锁智力障碍Najm类型和CASK相关疾病有关，症状包括肌肉痉挛和肌肉无力。与智力发育障碍伴小头畸形和脑桥小脑发育不良有关的重要基因是CASK（钙/钙调蛋白依赖性丝氨酸蛋白激酶），其相关通路/超级通路包括嗅觉信号通路。相关组织包括眼睛和大脑，相关表型为智力障碍、中度和重度全球发育延迟。

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