Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type (MRXSC)

Alias:

Cabezas Syndrome

Mental Retardation, X-Linked, Syndromic 15

Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait

Mental Retardation, X-Linked, with Short Stature

X-Linked Intellectual Disability, Cabezas Type

X-Linked Intellectual Disability Cabezas Type

Mrxs15

Mrxsc

Mrss

Intellectual Developmental Disorder, X-Linked Syndromic, Cabezas Type

Mental Retardation, X-Linked, Syndromic, Cabezas Type

Intellectual Deficit, X-Linked, Cabezas Type

Mrxhf2

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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Cabezas型综合征，也称为Cabezas综合征，与X连锁伴有Cabezas型智力障碍和性腺功能减退有关，症状包括震颤和步态共济失调。与智力发育障碍，X连锁，伴有Cabezas型综合征有关的重要基因是CUL4B（Cullin 4B）。相关组织包括睾丸和皮肤，相关表型为短颈和腹股沟疝。

Related ID：

MALACARDS：INT412

OMIM：300354

MESH：D038901