Microcephaly with or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development (MCLMR)

小头畸形伴有或不伴有脉络膜视网膜病变-淋巴水肿或智力发育受损(来自ICD-11)

别称:

Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation

Lymphedema, Microcephaly and Chorioretinopathy Syndrome

Lymphedema and Retinal Folds with Microcephaly and Microphthalmos

Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome

Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome

Microcephaly-Lymphedema-Chorioretinopathy Syndrome

Mlcrd Syndrome

Cdmmr Syndrome

Mclmr

Mlcrd

Microcephaly and Chorioretinopathy with or Without Mental Retardation, Autosomal Dominant

Microcephaly with or Without Chorioretinopathy, Lymphedema, or Intellectual Disability

Microcephaly with/without Chorioretinopathy, Lymphedema, or Mental Retardation

Lymphedema and Retinal Folds with Ficrocephaly and Microphthalmos

Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome

Lymphedema, Microcephaly, Chorioretinopathy Syndrome

Lymphedema Microcephaly Chorioretinopathy Syndrome

Microcephaly Lymphedema Chorioretinal Dysplasia

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

小头畸形伴或不伴视网膜色素变性、淋巴水肿或智力障碍，又称小头畸形伴或不伴视网膜色素变性、淋巴水肿或智力障碍，与小头畸形和小头畸形伴视网膜色素变性、常染色体隐性1有关。与小头畸形伴或不伴视网膜色素变性、淋巴水肿或智力障碍有关的重要基因是KIF11（动力蛋白家族成员11）。附属组织包括眼睛和皮肤，相关表型为小头畸形和淋巴水肿。

查看原文参与反馈