Neuroectodermal Melanolysosomal Disease

Description

Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.

Clinical Features

Top most frequent phenotypes and symptoms related to Neuroectodermal Melanolysosomal Disease

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscular hypotonia
  • Spasticity
  • Myopia
  • Optic atrophy

And another 19 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

Neuroectodermal Melanolysosomal Disease Is also known as elejalde disease.

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.


Mendelian

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Neuroectodermal Melanolysosomal Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Albinism sequencing panel.

By Genetic Services Laboratory University of Chicago (United States).

TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, HPS1, AP3B1, MYO5A, OCA2, BLOC1S6, RAB27A
Specificity
5 %
Genes
100 %
Albinism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, HPS1, AP3B1, MYO5A, OCA2, BLOC1S6, RAB27A
Specificity
5 %
Genes
100 %
MYO5A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

MYO5A
Specificity
100 %
Genes
100 %
Griscelli Syndrome type 1 (sequence analysis of MYO5A gene).

By CGC Genetics (Portugal).

MYO5A
Specificity
100 %
Genes
100 %
Albinism (NGS panel for 12 genes).

By CGC Genetics (Portugal).

TYR, TYRP1, SLC45A2, LYST, GPR143, SLC24A5, LRMDA, MC1R, MITF, MYO5A, OCA2, RAB27A
Specificity
9 %
Genes
100 %
Oculocutaneous Albinism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TYR, TYRP1, SLC45A2, HPS6, LYST, GPR143, SLC24A5, LRMDA, MC1R, MITF, MYO5A, OCA2, RAB27A
Specificity
8 %
Genes
100 %
Oculocutaneous Albinism in Griscelli syndrome via MYO5A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

MYO5A
Specificity
100 %
Genes
100 %

We have 25 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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