Intellectual Developmental Disorder, Autosomal Dominant 51 (MRD51)

Intellectual Developmental Disorder, Autosomal Dominant 51(来自ICD-11)

别称:

Mrd51

Autosomal Dominant Intellectual Developmental Disorder 51

Mental Retardation, Autosomal Dominant, Type 51

Intellectual Disability, Autosomal Dominant 51

Mental Retardation, Autosomal Dominant 51

Autosomal Dominant Mental Retardation 51

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, Autosomal Dominant 51, also known as mrd51, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 51 is KMT5B (Lysine Methyltransferase 5B). Related phenotypes are intellectual disability and autistic behavior

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