Lopes-maciel-rodan Syndrome; Lomars

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Lopes-maciel-rodan Syndrome; Lomars

View recommended genes panels

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

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TANGIER DISEASE IMMUNODEFICIENCY 36; IMD36 EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D AUTISM, SUSCEPTIBILITY TO, 3; AUTS3 EHLERS-DANLOS SYNDROME, TYPE VI; EDS6 POLYCYSTIC LIVER DISEASE 1; PCLD1