Intellectual Developmental Disorder, Autosomal Dominant 38 (MRD38)

Alias:

Psychomotor Retardation, Epilepsy, and Language Disability Syndrome

Prelds

Mrd38

Autosomal Dominant Intellectual Developmental Disorder 38

Autosomal Dominant Non-Syndromic Intellectual Disability 38

Mental Retardation, Autosomal Dominant, Type 38

Intellectual Disability, Autosomal Dominant 38

Mental Retardation, Autosomal Dominant 38

Autosomal Dominant Mental Retardation 38

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, Autosomal Dominant 38, also known as psychomotor retardation, epilepsy, and language disability syndrome, is related to immunodeficiency 51 and developmental and epileptic encephalopathy 33. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 38 is EEF1A2 (Eukaryotic Translation Elongation Factor 1 Alpha 2), and among its related pathways/superpathways are Triacylglyceride synthesis and Photodynamic therapy-induced unfolded protein response. Affiliated tissues include eye and brain, and related phenotypes are global developmental delay and depressed nasal bridge

Related ID：

MALACARDS：INT549

OMIM：616393

MESH：D008607