HDLBP gene related symptoms and diseases
All the information presented here about the HDLBP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HDLBP gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Broad nasal tip | Very Common - Between 80% and 100% cases |
Broad-based gait | Very Common - Between 80% and 100% cases |
Sparse scalp hair | Very Common - Between 80% and 100% cases |
Congenital diaphragmatic hernia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with HDLBP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Narrow forehead
- Eczema
- Wide intermamillary distance
- Underdeveloped nasal alae
- Short metacarpal
- Round face
- Sleep disturbance
- Short phalanx of finger
And 88 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HDLBP gene
Here you will find a list of rare diseases related to the HDLBP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
2Q37 MICRODELETION SYNDROME
Alternate names
2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome, del(2)(q37), monosomy 2q37-qter, brachydactyly-intellectual disability syndrome, albright hereditary osteodystrophy type 3, brachydactyly-mental retardation syndrome, bdmr, deletion 2q37-qter, deletion 2q37
Description
Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
Most common symptoms of 2Q37 MICRODELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about 2Q37 MICRODELETION SYNDROME
Search interest in HDLBP
Potential gene panels for HDLBP gene
HDLBP Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HDLBP 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 GABRA5 PIGN NEB ASXL2 KIF1A KCNAB2 TMEM43