Intellectual Developmental Disorder, Autosomal Dominant 23 (MRD23)

Alias:

Intellectual Disability-Facial Dysmorphism Syndrome Due to Setd5 Haploinsufficiency

Mrd23

Autosomal Dominant Intellectual Developmental Disorder 23

Mental Retardation, Autosomal Dominant 23

Autosomal Dominant Non-Syndromic Intellectual Disability 23

Mental Retardation, Autosomal Dominant, Type 23

Autosomal Dominant Mental Retardation 23

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, Autosomal Dominant 23, also known as intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency, is related to chromosome 3pter-p25 deletion syndrome and floating-harbor syndrome. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 23 is SETD5 (SET Domain Containing 5). Affiliated tissues include heart and thalamus, and related phenotypes are intellectual disability and delayed speech and language development

Related ID：

MALACARDS：INT538

OMIM：615761

MESH：D008607