Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 2; Hgpps2

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 Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 2; Hgpps2

Clinical Features

Top most frequent phenotypes and symptoms related to Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 2; Hgpps2

Intellectual disability
Global developmental delay
Generalized hypotonia
Scoliosis
Hyperreflexia
Agenesis of corpus callosum
Unsteady gait
Clonus
Ankle clonus
Hypoplasia of the pons

And another 1 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.

Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 2; Hgpps2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital mirror movements type 1 (deletion/duplication analysis of DCC gene). By CGC Genetics (Portugal). DCC Specificity 100 % Genes 100 %
Congenital mirror movements type 1 (sequence analysis of DCC gene). By CGC Genetics (Portugal). DCC Specificity 100 % Genes 100 %
Congenital mirror movements type 1 (deletion/duplication analysis of DCC gene). By CGC Genetics (Portugal). DCC Specificity 100 % Genes 100 %
Congenital mirror movements type 1 (sequence analysis of DCC gene). By CGC Genetics (Portugal). DCC Specificity 100 % Genes 100 %
Mirror movements type 1. By Centogene AG - the Rare Disease Company (Germany). DCC Specificity 100 % Genes 100 %
Esophageal carcinoma, somatic. By Centogene AG - the Rare Disease Company (Germany). DCC Specificity 100 % Genes 100 %
Colorectal cancer, somatic. By Centogene AG - the Rare Disease Company (Germany). DCC Specificity 100 % Genes 100 %
Single gene testing DCC. By CeGaT GmbH (Germany). DCC Specificity 100 % Genes 100 %

You can get up to 5 more panels with our dedicated tool

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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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