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.
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
Search interest in EMG1
Potential gene panels for EMG1 gene
EMG1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EMG1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HUWE1 KCNT1 PEX19 TRAPPC9 A2ML1 ABHD12 PSMB8