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

Alias:
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
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microcephaly with or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development, also known as microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, is related to microcephaly and microcephaly and chorioretinopathy, autosomal recessive, 1. An important gene associated with Microcephaly with or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development is KIF11 (Kinesin Family Member 11). Affiliated tissues include eye and skin, and related phenotypes are microcephaly and lymphedema
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
11
69
31

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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