Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type (MRXSL)

Alias:

Mecp2 Duplication Syndrome

Lubs X-Linked Mental Retardation Syndrome

X-Linked Intellectual Disability Syndrome, Lubs Type

Proximal Xq28 Duplication Syndrome

Trisomy Xq28

Mrxsl

Mental Retardation, X-Linked, with Recurrent Respiratory Infections

Intellectual Developmental Disorder, X-Linked Syndromic, Lubs Type

Syndromic X-Linked Intellectual Disability Lubs Type

Mental Retardation, X-Linked Syndromic, Lubs Type

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type, also known as mecp2 duplication syndrome, is related to rett syndrome and encephalopathy, neonatal severe, due to mecp2 mutations, and has symptoms including ataxia, constipation and muscle rigidity. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include eye and brain, and related phenotypes are ptosis and global developmental delay

Related ID：

MALACARDS：INT409

OMIM：300260

MESH：D038901