Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type (MRXSN)

Alias:

Mental Retardation, X-Linked, Syndromic, Nascimento Type

Mrxs30

Mrxsn

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

Intellectual Developmental Disorder, X-Linked Syndromic, Nascimento Type

X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome

Syndromic X-Linked Intellectual Disability Nascimento Type

Mental Retardation, X-Linked Syndromic, Nascimento-Type

X-Linked Intellectual Disability, Nascimento Type

Mental Retardation, X-Linked, Syndromic 30

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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，X连锁，伴有综合征，Nascimento型，又称精神发育迟滞，X连锁，伴有综合征，Nascimento型，与X连锁综合征性智力障碍Nascimento型有关，症状包括癫痫发作和皮肤干燥。与智力发育障碍，X连锁，伴有综合征，Nascimento型有关的重要基因是UBE2A（泛素连接酶E2A）。附属组织包括皮肤和脑桥，相关表型为皮肤干燥和大嘴

Related ID：

MALACARDS：INT428

OMIM：300860

MESH：D038901