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  3. RBMX

RBMX gene related symptoms and diseases

All the information presented here about the RBMX gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to RBMX gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Everted lower lip vermilion Very Common - Between 80% and 100% cases
Macroorchidism Very Common - Between 80% and 100% cases
Palpebral edema Very Common - Between 80% and 100% cases
Prominent supraorbital ridges Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RBMX gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Narrow palpebral fissure
  • Thick lower lip vermilion
  • Bilateral sensorineural hearing impairment
  • Specific learning disability
  • Bulbous nose
  • Seizures
  • Blepharophimosis
  • Intellectual disability, moderate

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RBMX gene

Here you will find a list of rare diseases related to the RBMX. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

Alternate names

X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE Is also known as shashi x-linked mental retardation syndrome, syndromic x-linked intellectual disability type 11, smrxs, mental retardation, x-linked, shashi type

Description

X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development


More info about X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

SOURCES: MESH ORPHANET OMIM


Potential gene panels for RBMX gene

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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