Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 (MRXHF1)

Alias:

Holmes-Gang Syndrome

Smith-Fineman-Myers Syndrome 1

Xlmr-Hypotonic Facies Syndrome

Carpenter-Waziri Syndrome

Chudley-Lowry Syndrome

Sfms

Intellectual Disability-Hypotonic Facies Syndrome, X-Linked

Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

X-Linked Mental Retardation-Hypotonic Facies Syndrome-1

Juberg-Marsidi Syndrome

Mrxhf1

Sfm1

Intellectual Disability X-Linked with Growth Retardation Deafness and Microgenitalism

Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Mental Retardation Smith Fineman Myers Type

Jms

Cws

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1, also known as holmes-gang syndrome, is related to intellectual developmental disorder, x-linked, syndromic, turner type and johnson neuroectodermal syndrome, and has symptoms including constipation and vomiting. An important gene associated with Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 is ATRX (ATRX Chromatin Remodeler). Affiliated tissues include tongue and bone, and related phenotypes are obesity and seizure

Related ID：

MALACARDS：INT504

OMIM：309580

MESH：D038901