Syndromic X-Linked Intellectual Disability Lubs Type (MRXSL)

Alias:

Lubs X-Linked Mental Retardation Syndrome

X-Linked Intellectual Disability-Hypotonia-Recurrent Infections Syndrome

Mental Retardation, X-Linked, with Recurrent Respiratory Infections

Mental Retardation, X-Linked, Syndromic, Lubs Type

Mecp2 Duplication Syndrome

Mrxsl

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Syndromic X-Linked Intellectual Disability Lubs Type, also known as lubs x-linked mental retardation syndrome, is related to intellectual developmental disorder, x-linked, syndromic, lubs type and rett syndrome, and has symptoms including ataxia, constipation and muscle rigidity. An important gene associated with Syndromic X-Linked Intellectual Disability Lubs Type is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include prefrontal cortex and thalamus, and related phenotype is Decreased viability.

Related ID：

MALACARDS：SYN175

MESH：C537723