Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius

Clinical Features

Top most frequent phenotypes and symptoms related to Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Spasticity
  • Hyperreflexia
  • Short neck

And another 23 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.

Alternative names

Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius Is also known as aqueductal stenosis.

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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Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HSP, X-Linked Evaluation.

By Athena Diagnostics Inc (United States).

L1CAM, PLP1
Specificity
50 %
Genes
100 %
HSP, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, SACS, SPG11, ATL1, SPAST, SPG7, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
HSP, Supplemental Sporadic Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, SACS, SPG11, ATL1, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A, L1CAM, KIF1A , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
X-linked hydrocephalus.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

L1CAM
Specificity
100 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
L1CAM Related Disorders - L1CAM Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

L1CAM
Specificity
100 %
Genes
100 %

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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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