Renpenning Syndrome 1 (RENS1)

Alias:

Renpenning Syndrome

Golabi-Ito-Hall Syndrome

X-Linked Intellectual Disability Due to Pqbp1 Mutations

X-Linked Intellectual Disability, Renpenning Type

Sutherland-Haan X-Linked Mental Retardation Syndrome

Rens1

Mrxs3

Mrxs8

Mrx55

Shs

X-Linked Intellectual Deficit Due to Pqbp1 Mutations

Mental Retardation, X-Linked, with Spastic Diplegia

X-Linked Mental Retardation with Spastic Diplegia

X-Linked Intellectual Deficit, Renpenning Type

Mental Retardation, X-Linked, Renpenning Type

X-Linked Mental Retardation Renpenning Type

Mental Retardation, X-Linked, Syndromic 3

Mental Retardation, X-Linked, Syndromic 8

Syndromic X-Linked Mental Retardation 8

Hamel Cerebro-Palato-Cardiac Syndrome

Hamel Cerebropalatocardiac Syndrome

Mental Retardation, X-Linked 55

Renpenning Syndrome, Type 1

Sutherland-Haan Syndrome

Porteous Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Renpenning Syndrome 1, also known as renpenning syndrome, is related to arthrogryposis, distal, type 2b1 and x-linked intellectual disability, golabi-ito-hall type, and has symptoms including muscle spasticity An important gene associated with Renpenning Syndrome 1 is PQBP1 (Polyglutamine Binding Protein 1). Affiliated tissues include testes and heart, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：RNP003

OMIM：309500

MESH：D038901