1. Mendelian
  2. Rare Disease Genes
  3. YME1L1

YME1L1 gene related symptoms and diseases

All the information presented here about the YME1L1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to YME1L1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Absent speech Very Common - Between 80% and 100% cases
Facial diplegia Very Common - Between 80% and 100% cases
Abnormality of mitochondrial metabolism Very Common - Between 80% and 100% cases
Hyperkinesis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with YME1L1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Leukoencephalopathy
  • Amblyopia
  • Brain atrophy
  • Dysmetria
  • Hypermetropia
  • Macrotia
  • Hyperactivity
  • Cerebellar hypoplasia

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to YME1L1 gene

Here you will find a list of rare diseases related to the YME1L1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OPTIC ATROPHY 11; OPA11

Description

OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

Most common symptoms of OPTIC ATROPHY 11; OPA11

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


More info about OPTIC ATROPHY 11; OPA11

SOURCES: OMIM


Potential gene panels for YME1L1 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

YME1L1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the YME1L1 gene.

More info about this panel
United States.

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