Chromosome 20q11-Q12 Deletion Syndrome (MRD11)

Alias:

Intellectual Developmental Disorder, Autosomal Dominant 11

Autosomal Dominant Intellectual Developmental Disorder 11

Mrd11

Intellectual Developmental Disorder, Autosomal Dominant 11, Included

Autosomal Dominant Non-Syndromic Intellectual Disability 11

Mental Retardation, Autosomal Dominant 11, Included

Mental Retardation, Autosomal Dominant, Type 11

Intellectual Disability, Autosomal Dominant 11

Autosomal Dominant Mental Retardation 11

Mrd11, Included

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Chromosome 20q11-Q12 Deletion Syndrome, also known as intellectual developmental disorder, autosomal dominant 11, is related to enophthalmos. An important gene associated with Chromosome 20q11-Q12 Deletion Syndrome is EPB41L1 (Erythrocyte Membrane Protein Band 4.1 Like 1). Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and intellectual disability, severe

Related ID：

MALACARDS：CHR712

OMIM：614257

MESH：D008607