1. Mendelian
  2. Rare Diseases
  3. LHERMITTE-DUCLOS DISEASE

Lhermitte-duclos Disease

Table of contents:

Description

Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

Genes related to Lhermitte-duclos Disease

  • PTEN

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Lhermitte-duclos Disease

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache
  • Papule
  • Nausea and vomiting
  • Polymicrogyria
  • Macroglossia
  • Cranial nerve paralysis

And another 8 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

Lhermitte-duclos Disease Is also known as dysplastic gangliocytoma of the cerebellum, ldd.

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.

Lhermitte-duclos Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PTEN Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
PTEN Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
PTEN Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
PTEN Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
PTEN Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
PTEN Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
100 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BRCA1, BRCA2, STK11, TP53, CDH1, PALB2, PTEN
Specificity
15 %
Genes
100 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BRCA1, BRCA2, STK11, TP53, CDH1, PALB2, PTEN
Specificity
15 %
Genes
100 %

You can get up to 416 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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