ODCs

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1 OMIM reference -
1 associated gene
20 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Neuroectodermal melanolysosomal disease

Severe early-onset axonal neuropathy due to NEFL deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MYO5A	(0.62)	NEFL

Citations in the biomedical literature:

Neuroectodermal melanolysosomal disease		Severe early-onset axonal neuropathy due to NEFL deficiency
	Synonym(s): - Elejalde disease - Elejalde syndrome		Synonym(s): - Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536203		External references: No OMIM references No MeSH references

Neuroectodermal melanolysosomal disease
	Very frequent - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Movement disorder - Premature greying of hair - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Myopia - Tremor Occasional - Ataxia / incoordination / trouble of the equilibrium - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Diffuse / generalised skin hyperpigmentation / melanoderma - Early death / lethality - Hypertonia / spasticity / rigidity / stiffness - Macular dystrophy / absence / hypoplasia of the macula - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Repeat respiratory infections - Strabismus / squint
Severe early-onset axonal neuropathy due to NEFL deficiency
(no data available)