Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired Language (NEDHSIL)

Alias:

Chromosome 5q14.3 Deletion Syndrome

Mental Retardation, Autosomal Dominant 20

Nedhsil

Mrd20

Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations

Mental Retardation, Autosomal Dominant 20, Formerly

Mental Retardation, Autosomal Dominant, Type 20

Intellectual Disability, Autosomal Dominant 20

Autosomal Dominant Mental Retardation 20

Mrd20, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired Language, also known as chromosome 5q14.3 deletion syndrome, is related to chromosome 5q14.3 deletion syndrome, distal and 5q14.3 microdeletion syndrome, and has symptoms including seizures An important gene associated with Neurodevelopmental Disorder with Hypotonia, Stereotypic Hand Movements, and Impaired Language is MEF2C (Myocyte Enhancer Factor 2C), and among its related pathways/superpathways are Protein ubiquitination and Ubiquitination Cascade. Affiliated tissues include eye and brain, and related phenotypes are epileptic encephalopathy and abnormal periventricular white matter morphology

Related ID：

MALACARDS：NRD132

OMIM：613443

MESH：D004827