Leukodystrophy and Acquired Microcephaly with or Without Dystonia (LDAMD)

Alias:
Leukodystrophy and Acquired Microcephaly with or Without Dystonia;
Ldamd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leukodystrophy and Acquired Microcephaly with or Without Dystonia, also known as ldamd, is related to spondylocostal dysostosis 1, autosomal recessive and malignant hyperthermia. An important gene associated with Leukodystrophy and Acquired Microcephaly with or Without Dystonia is PLEKHG2 (Pleckstrin Homology And RhoGEF Domain Containing G2). Affiliated tissues include pons, and related phenotypes are global developmental delay and microcephaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
9
2

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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