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neuroectodermal melanolysosomal disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuroectodermal melanolysosomal disease

MONDO:0009742

Also known as:Elejalde disease

Overview

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

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Seizure, Hypopigmentation of the skin, Low muscle tone (hypotonia), and Global developmental delay and others; and common findings: Myopia and Tremor. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Seizure, Global developmental delay, Ataxia

Prognosis

Phenotype severity distribution: 9 very common features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:256710

Orphanet

European rare disease database

Orphanet:33445

GARD

Genetic and Rare Diseases Info Center

GARD:16630

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neuroectodermal melanolysosomal disease

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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