Intellectual Developmental Disorder, Autosomal Dominant 5 (MRD5)

Alias:

Mrd5

Autosomal Dominant Intellectual Developmental Disorder 5

Mental Retardation, Autosomal Dominant 5

Autosomal Dominant Non-Syndromic Intellectual Disability 5

Mental Retardation, Autosomal Dominant, Type 5

Intellectual Disability, Autosomal Dominant 5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, Autosomal Dominant 5, also known as mrd5, is related to syngap1-related intellectual disability and stereotypic movement disorder, and has symptoms including seizures An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 5 is SYNGAP1 (Synaptic Ras GTPase Activating Protein 1). Affiliated tissues include brain and cortex, and related phenotypes are hypotonia and global developmental delay

Related ID：

MALACARDS：INT516

OMIM：612621

MESH：D008607