Partington Syndrome (PRTS)

Alias:

X-Linked Reticulate Pigmentary Disorder

Partington X-Linked Mental Retardation Syndrome

Partington-Mulley Syndrome

Mrx36

Prts

X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome

Intellectual Developmental Disorder, X-Linked, Syndromic 1

Russell-Silver Syndrome, X-Linked

Partington Disease

Mrxs1

Pdr

Mental Retardation, X-Linked, with Dystonic Movements, Ataxia, and Seizures

X-Linked Mental Retardation with Dystonic Movements, Ataxia, and Seizures

X-Linked Reticulate Pigmentary Disorder with Systemic Manifestations

Pigmentary Disorder, Reticulate, with Systemic Manifestations

X-Linked Intellectual Deficit-Dystonia-Dysarthria

Mental Retardation, X-Linked, Syndromic 1

Mental Retardation, Partington Syndrome

X-Linked Russell-Silver Syndrome

Mental Retardation, X-Linked 36

Familial Cutaneous Amyloidosis

X-Linked Cutaneous Amyloidosis

Xlpdr

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Partington Syndrome, also known as x-linked reticulate pigmentary disorder, is related to intellectual developmental disorder, x-linked 29 and west syndrome, and has symptoms including ataxia, seizures and diarrhea. An important gene associated with Partington Syndrome is ARX (Aristaless Related Homeobox). Affiliated tissues include skin and brain, and related phenotypes are intellectual disability and triangular face

Related ID：

MALACARDS：PRT003

OMIM：309510

MESH：C562446