ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Progressive epilepsy - intellectual deficit, Finnish type

CLN8 disease

CLN8

Citations in the biomedical literature:

Progressive epilepsy - intellectual deficit, Finnish type		CLN8 disease
	Synonym(s): - CLN8 disease, Northern epilepsy variant - NCL, Northern epilepsy variant - Neuronal ceroid lipofuscinosis, Northern epilepsy variant - Northern epilepsy		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - 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: - Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 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
CLN8 disease
(no data available)