LETM1 gene related symptoms and diseases
All the information presented here about the LETM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LETM1 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Abnormality of the genital system | Very Common - Between 80% and 100% cases |
Chronic otitis media | Very Common - Between 80% and 100% cases |
Abnormality of the thorax | Very Common - Between 80% and 100% cases |
Abnormality of the urinary system | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LETM1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hemangioma
- Sacral dimple
- Abnormal vertebral morphology
- Short thumb
- Abnormal form of the vertebral bodies
- Preaxial hand polydactyly
- Split hand
- Low posterior hairline
And 72 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LETM1 gene
Here you will find a list of rare diseases related to the LETM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
WOLF-HIRSCHHORN SYNDROME
Alternate names
WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p, distal monosomy 4p, telomeric deletion 4p, 4p- syndrome
Description
Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
Most common symptoms of WOLF-HIRSCHHORN SYNDROME
- Seizures
- Global developmental delay
- Hearing impairment
- Microcephaly
- Scoliosis
More info about WOLF-HIRSCHHORN SYNDROME
SOURCES: ORPHANET
Search interest in LETM1
Potential gene panels for LETM1 gene
Nuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelLETM1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LETM1 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 GTPBP3 CCDC170 SHOX SIX3 RARB ATP6V1A ACSF3