Xia-Gibbs Syndrome (XIGIS)

Alias:

Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome

Ahdc1-Related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome

Xigis

Mrd25

Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism S

Mental Retardation, Autosomal Dominant 25, Formerly

Autosomal Dominant Intellectual Disability 25

Autosomal Dominant Mental Retardation 25

Xia-Xibbs Syndrome

Mrd25, Formerly

Xgs

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Xia-Gibbs Syndrome, also known as ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome, is related to hypotonia and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a, and has symptoms including snoring An important gene associated with Xia-Gibbs Syndrome is AHDC1 (AT-Hook DNA Binding Motif Containing 1), and among its related pathways/superpathways is Mesodermal commitment pathway. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and hypotonia

Related ID：

MALACARDS：XGB001

OMIM：615829

MESH：D008607