HYLS1 gene related symptoms and diseases
All the information presented here about the HYLS1 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 HYLS1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Low-set ears | Very Common - Between 80% and 100% cases |
| Hydrocephalus | Very Common - Between 80% and 100% cases |
| Cleft palate | Common - Between 50% and 80% cases |
| Micrognathia | Common - Between 50% and 80% cases |
| Arrhinencephaly | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with HYLS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of cardiovascular system morphology
- Agenesis of corpus callosum
- Encephalocele
- Microphthalmia
- Polyhydramnios
- Anencephaly
- Absent septum pellucidum
- Postaxial hand polydactyly
And 87 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HYLS1 gene
Here you will find a list of rare diseases related to the HYLS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
JOUBERT SYNDROME
Alternate names
JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv, joubert syndrome type a, classic joubert syndrome, pure joubert syndrome, cpd iv, joubert-boltshauser syndrome
Description
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Most common symptoms of JOUBERT SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Scoliosis
- Ataxia
More info about JOUBERT SYNDROME
SOURCES: ORPHANET
HYDROLETHALUS SYNDROME 1; HLS1
Most common symptoms of HYDROLETHALUS SYNDROME 1; HLS1
- Micrognathia
- Cleft palate
- Low-set ears
- Intrauterine growth retardation
- Macrocephaly
More info about HYDROLETHALUS SYNDROME 1; HLS1
HYDROLETHALUS
Description
Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.
Most common symptoms of HYDROLETHALUS
- Micrognathia
- Cleft palate
- Cryptorchidism
- Low-set ears
- Hydrocephalus
More info about HYDROLETHALUS
SOURCES: ORPHANET
Search interest in HYLS1
Potential gene panels for HYLS1 gene
HYLS1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HYLS1 gene.
More info about this panel Spain.
Hydrolethalus Syndrome 1 (sequence analysis of HYLS1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HYLS1 gene.
More info about this panel Portugal.
Hydroletalus syndrome Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the HYLS1 gene.
More info about this panel Poland.
Hydrolethalus syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HYLS1 gene.
More info about this panel Germany.
Ciliopathies: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panel United States.
Ciliopathies: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A
More info about this panel United States.
Ciliopathies NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panel United States.
HYLS1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HYLS1 gene.
More info about this panel United States.
Ciliopathy Panel Panel
Finland.
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel Finland.
Hydrolethalus Panel
Spain.
By Bioarray
This panel specifically test the HYLS1 gene.
More info about this panel Spain.
HYDROLETHALUS SYNDROMETYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the HYLS1 gene.
More info about this panel Spain.
Hydrolethalus Syndrome, Sequencing HYLS1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HYLS1 gene.
More info about this panel Spain.
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