Lopes-maciel-rodan Syndrome; Lomars

Clinical Features

Top most frequent phenotypes and symptoms related to Lopes-maciel-rodan Syndrome; Lomars

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Pain
  • Spasticity
  • Feeding difficulties
  • Myopia
  • Tremor

And another 26 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Lopes-maciel-rodan Syndrome; Lomars Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HTC.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

HTT
Specificity
100 %
Genes
100 %
Huntington Disease Repeat Expansion Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HTT
Specificity
100 %
Genes
100 %
Huntington Disease Repeat Expansion Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

HTT
Specificity
100 %
Genes
100 %
Chorea Differential Evaluation.

By Athena Diagnostics Inc (United States).

ATN1, HTT
Specificity
50 %
Genes
100 %
Huntington's Disease DNA Test.

By Athena Diagnostics Inc (United States).

HTT
Specificity
100 %
Genes
100 %
Huntington's Disease.

By Center for Human Genetics, Inc (United States).

HTT
Specificity
100 %
Genes
100 %
Huntington Disease.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

HTT
Specificity
100 %
Genes
100 %
Huntington's Disease.

By Molecular Pathology Laboratory University of Pennsylvania Health System (United States).

HTT
Specificity
100 %
Genes
100 %

You can get up to 60 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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