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.

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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


Potential gene panels for LETM1 gene

Nuclear-Mito NGS Panel Panel

United States.

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 panel

LETM1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LETM1 gene.

More info about this panel


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