EMG1 gene related symptoms and diseases

All the information presented here about the EMG1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EMG1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Small for gestational age Very Common - Between 80% and 100% cases
Severe intrauterine growth retardation Very Common - Between 80% and 100% cases
Abnormal lung lobation Very Common - Between 80% and 100% cases
Abnormal joint morphology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EMG1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Rocker bottom foot
  • Short chin
  • Finger clinodactyly
  • Interphalangeal joint contracture of finger
  • Sloping forehead
  • Prominent nose
  • Oral cleft
  • Abnormality of the foot

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to EMG1 gene

Here you will find a list of rare diseases related to the EMG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BOWEN-CONRADI SYNDROME


Alternate names

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type, bowen hutterite syndrome, formerly

Description

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

Most common symptoms of BOWEN-CONRADI SYNDROME

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


More info about BOWEN-CONRADI SYNDROME

SOURCES: ORPHANET OMIM MESH


Potential gene panels for EMG1 gene

EMG1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EMG1 gene.

More info about this panel


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