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.

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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

SOURCES: MESH OMIM

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


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

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

Hydroletalus syndrome Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the HYLS1 gene.

More info about this panel

Hydrolethalus syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HYLS1 gene.

More info about this panel

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

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

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

HYLS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HYLS1 gene.

More info about this panel

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

Hydrolethalus Panel

Spain.

By Bioarray

This panel specifically test the HYLS1 gene.

More info about this panel

HYDROLETHALUS SYNDROMETYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the HYLS1 gene.

More info about this panel

Hydrolethalus Syndrome, Sequencing HYLS1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HYLS1 gene.

More info about this panel


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