Hydrolethalus Syndrome 1; Hls1

Clinical Features

Top most frequent phenotypes and symptoms related to Hydrolethalus Syndrome 1; Hls1

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly
  • Ventricular septal defect
  • Talipes equinovarus
  • Hydrocephalus
  • Microphthalmia
  • Hypospadias

And another 42 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hydrolethalus Syndrome 1; Hls1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HYLS1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

HYLS1
Specificity
100 %
Genes
100 %
Hydrolethalus Syndrome 1 (sequence analysis of HYLS1 gene).

By CGC Genetics (Portugal).

HYLS1
Specificity
100 %
Genes
100 %
Hydroletalus syndrome.

By Laboratory of Genetics BioTe21 Adam Master (Poland).

HYLS1
Specificity
100 %
Genes
100 %
Hydrolethalus syndrome.

By Centogene AG - the Rare Disease Company (Germany).

HYLS1
Specificity
100 %
Genes
100 %
Ciliopathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

RPE65, RPGR, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, TSC1, TSC2, CEP41, TULP1, UMOD, USH1C, USH2A, CLRN1, VHL, ZIC3, ARL6, NEK8, RPGRIP1 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Ciliopathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

RPE65, RPGR, ATXN10, SDCCAG8, TSC1, TSC2, TULP1, UMOD, USH1C, USH2A, CLRN1, VHL, ZIC3, ARL6, NEK8, RPGRIP1, CDH23, PCDH15, USH1G, WHRN , (...)

View the complete list with 76 more genes
Specificity
2 %
Genes
100 %
Ciliopathies NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RPE65, RPGR, ATXN10, SDCCAG8, TULP1, UMOD, USH1C, USH2A, CLRN1, VHL, ZIC3, ARL6, NEK8, RPGRIP1, CDH23, PCDH15, USH1G, WHRN, TRIM32, NME8 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %
HYLS1.

By Fulgent Genetics Fulgent Genetics (United States).

HYLS1
Specificity
100 %
Genes
100 %

You can get up to 4 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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