LYL1 gene related symptoms and diseases

All the information presented here about the LYL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LYL1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Pachygyria Very Common - Between 80% and 100% cases
Incoordination Very Common - Between 80% and 100% cases
Laryngomalacia Very Common - Between 80% and 100% cases
Reduced bone mineral density Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LYL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Sleep apnea
  • Accelerated skeletal maturation
  • Generalized hirsutism
  • Increased body weight
  • Gingival overgrowth
  • Tall stature
  • Decreased body weight
  • Bowing of the long bones

And 97 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LYL1 gene

Here you will find a list of rare diseases related to the LYL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MARSHALL-SMITH SYNDROME


Alternate names

MARSHALL-SMITH SYNDROME Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Description

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

Most common symptoms of MARSHALL-SMITH SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about MARSHALL-SMITH SYNDROME

SOURCES: ORPHANET OMIM MESH


Potential gene panels for LYL1 gene

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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