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.
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
Search interest in LYL1
Potential gene panels for LYL1 gene
Caris MI TumorSeek 592-Gene NGS Panel Panel
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 panelTempus xO assay Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PSEN2 HPSE2 HBD CD164 ASXL3 CYLD BAG3