Stickler Syndrome, Type Iv; Stl4

Clinical Features

Top most frequent phenotypes and symptoms related to Stickler Syndrome, Type Iv; Stl4

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Myopia
  • Genu valgum
  • Astigmatism
  • Flat face
  • Retinal detachment
  • High myopia
  • Epiphyseal dysplasia

And another 6 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.)
No data available about the known clinical features 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.


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Stickler Syndrome, Type Iv; Stl4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Stickler Syndrome Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

COL11A1, COL11A2, COL9A1, COL9A2, COL9A3
Specificity
20 %
Genes
100 %
COL9A1. Sequencing of the exons 8 and 9.

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

COL9A1
Specificity
100 %
Genes
100 %
Stickler syndrome Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

COL11A1, COL11A2, COL9A1, COL9A2
Specificity
25 %
Genes
100 %
Stickler syndrome Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

COL11A1, COL11A2, COL9A1, COL9A2
Specificity
25 %
Genes
100 %

We have 87 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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