Intellectual Developmental Disorder, Autosomal Dominant 42 (MRD42)

Alias:

Mrd42

Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome

Autosomal Dominant Intellectual Developmental Disorder 42

Mental Retardation, Autosomal Dominant 42

Autosomal Dominant Non-Syndromic Intellectual Disability 42

Intellectual Disability, Autosomal Dominant 42

Autosomal Dominant Mental Retardation 42

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, Autosomal Dominant 42, also known as mrd42, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and autosomal dominant intellectual developmental disorder. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 42 is GNB1 (G Protein Subunit Beta 1). Affiliated tissues include eye and brain, and related phenotypes are global developmental delay and generalized hypotonia

Related ID：

MALACARDS：INT453

OMIM：616973

MESH：D008607