ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Progressive epilepsy - intellectual deficit, Finnish type

Pelizaeus-Merzbacher disease, classic form


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CLN8	(0.63)	PLP1

Citations in the biomedical literature:

Progressive epilepsy - intellectual deficit, Finnish type		Pelizaeus-Merzbacher disease, classic form
	Synonym(s): - CLN8 disease, Northern epilepsy variant - NCL, Northern epilepsy variant - Neuronal ceroid lipofuscinosis, Northern epilepsy variant - Northern epilepsy		Synonym(s): - classic PMD

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: x-linked recessive

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

Progressive epilepsy - intellectual deficit, Finnish type
	Very frequent - Autosomal recessive inheritance - EEG anomalies - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Visual loss / blindness / amblyopia Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Psychosis / schizophrenia / maniac disorder
Pelizaeus-Merzbacher disease, classic form
(no data available)