X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome (PPMX)

X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome(来自ICD-11)

别称:

Lindsay-Burn Syndrome

Ppm-X

Mrxs13

Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism

X-Linked Mental Retardation with Spasticity

Mental Retardation, X-Linked, Syndromic 13

X-Linked Mental Retardation, Syndromic 13

X-Linked Mental Retardation 79

Ppm-X Syndrome

Ppmx

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome, also known as lindsay-burn syndrome, is related to intellectual developmental disorder, x-linked, syndromic 13 and encephalopathy, neonatal severe, due to mecp2 mutations. An important gene associated with X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways is Chromatin Regulation / Acetylation. Affiliated tissues include testes and heart, and related phenotypes are seizure and macroorchidism

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