Microcephalic Osteodysplastic Primordial Dwarfism, Type I (MOPD1)

小头畸形骨发育不良原始侏儒症I型(来自ICD-11)

别称:

Taybi-Linder Syndrome

Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type

Microcephalic Osteodysplastic Primordial Dwarfism Types I and Iii

Microcephalic Osteodysplastic Primordial Dwarfism Type I

Low-Birth-Weight Dwarfism with Skeletal Dysplasia

Primordial Microcephalic Dwarfism, Crachami Type

Osteodysplastic Primordial Dwarfism, Type 1

Brachymelic Primordial Dwarfism

Cephaloskeletal Dysplasia

Mopd Types I and Iii

Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1

Microcephalic Osteodysplastic Primordial Dwarfism, Type 1

Primordial Microcephalic Dwarfism Crachami Type

Osteodysplastic Primordial Dwarfism, Type I

Osteodysplastic Primordial Dwarfism Type I

Mopd I

Mopd1

Mopd

Tals

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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

微小头骨骨发育不全症I型，也称为泰比-林德纳综合症，与罗伊-伍德综合症和罗夫曼综合症有关，症状包括癫痫和皮肤干燥。与微小头骨骨发育不全症I型有关的重要基因是RNU4ATAC（RNA，U4atac小核糖体），其相关通路/超级通路包括处理含帽内含子的前mRNA和mRNA剪接-次要通路。附属组织包括骨和眼，相关表型为智力障碍和癫痫。

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