ODCs

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1 OMIM reference -
1 associated gene
20 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

1 OMIM reference -
1 associated gene
12 signs/symptoms

Neuroectodermal melanolysosomal disease

Griscelli disease type 1

Citations in the biomedical literature:

Neuroectodermal melanolysosomal disease		Griscelli disease type 1
	Synonym(s): - Elejalde disease - Elejalde syndrome		Synonym(s): - Griscelli-PruniÃ©ras syndrome type 1 - Hypopigmentation - neurologic impairment

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C536203		External references: 1 OMIM reference - 1 MeSH reference: C537301


COMMON SIGNS	- Ataxia / incoordination / trouble of the equilibrium - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Movement disorder - Nystagmus - Premature greying of hair - Seizures / epilepsy / absences / spasms / status epilepticus

Neuroectodermal melanolysosomal disease		Griscelli disease type 1
	Very frequent - Decreased hair pigmentation / hypopigmentation of hair - Hypotonia Frequent - Myopia - Tremor Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Diffuse / generalised skin hyperpigmentation / melanoderma - Early death / lethality - Macular dystrophy / absence / hypoplasia of the macula - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Repeat respiratory infections - Strabismus / squint		Very frequent - Albinism (hair) - Iris albinism / ocular albinism Frequent - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia Occasional - Intracranial / cerebral calcifications